Ploughing Through PACES

Ploughing through PACES !
Compiled by – Sarowar Hossain

Ploughing through PACES!
Abdominal System
The General Examination:
1. Inspection around the bed: Medications, nutritional supplements.
2. Inspection of the patient: Cachexia, icterus or pallor, abdominal distention
3. Hands: Arms outstretched and then cocked back; clubbing, leukonychia, koilonychia, purpura,
pin prick marks of BM testing, palmar erythema; dupytrens contracture, capillary refill, skin
temperature, radial pulse.
4. Arms: Purpura, AV fistula.
5. Eyes: Icterus, conjunctival pallor, xanthelasma.
6. Face: Parotid enlargement.
7. Mouth: Telangiectasia, pigmentation, angular stomatitis, gum hypertrophy, macroglossia,

aphthous ulcers.
8. Neck (and back at same time): JVP if CLD, neck scars (neck lines, parathyroidectomy), palpate
the lymph nodes (especially the left supraclavicular node (Virchow’s node, if present = Troisier’s
sign); look down the back in case of nephrectomy scars.
9. Chest: Arms behind head; loss of axillary hair in men, gynecomastia, spider naevi.
10. Inspection of the abdomen:
▪ Herniae: Lift head off the bed; epigastric, umbilical, paraumbilical, spigelian (lateral edge
of rectus sheath, below and lateral to umbilicus), incisional, inguinal, femoral,
divarication of the recti.
▪ Scars: Median (emergency, good access to most organs), paramedian (emergency, good
access), kocker’s (diagonal in RUQ; access to liver and biliary tract), reverse kocker’s
(diagonal in LUQ; splenic access), rooftop (across RUQ and LUQ; access to oesophagus,
stomach, pancreas), extended rooftop/mercedes (liver transplant), loin incision
(nephrectomy), pfannensteil (access to womb, bladder, prostate), rutherford morrison
(renal transplant), grid iron (diagonal in RLQ; appendicectomy), Lanz (appendicectomy),
laparoscopic scars.
▪ Skin: striae, caput medusae (radiate from umbilicus = portal hypertension), reversal of
flow patterns in prominent veins (normally blood flows up above umbilicus and down
below the umbilicus, but if IVC obstruction blood flows up below the umbilicus).
▪ Masses.
11. Auscultation of the abdomen: Bowel sounds, bruits (over the abdominal aorta, renal arteries,
iliac vessels), rubs (over the liver or spleen).
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12. Palpation of the abdomen: Gently for pain looking at the patients face, then deeper in each
section, then specifically liver, spleen, kidneys, abdominal aorta.
13. Percussion of the abdomen: Liver and spleen from RLQ, bladder, shifting dullness of ascites; tap
away from yourself until dull, roll away from me, tap again.
14. Legs: Peripheral oedema, rashes.
15. To finish off I would like to…
▪ Examine the hernieal orifices and external genitalia.
▪ Perform a digital rectal examination.
▪ Perform a urine dipstick.
▪ If transplant – check for glycosuria, hypertension and fever.
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Chronic Liver Disease

Possible scenarios: Jaundice, fatigue, abdominal swelling, abdominal discomfort.
Assessing for chronic liver disease: You should be asking yourself four questions:
1. What features of chronic liver disease are present?
▪ Features of reduced oestrogen breakdown – palmar erythema, spider naevi (5 or more),

gynaecomastia, reduced axillary and genital hair, testicular atrophy.
▪ Features of reduced liver synthetic function – cachexia, leukonychia, bruising.
▪ Features of portal hypertension – caput medusae, splenomegaly.
2. What features of decompensation are present? Look for hepatic encephalopathy (liver flap,
drowsiness, confusion), ascites (shifting dullness, fluid thrill, drain/tap marks, tazocin), easy
bleeding (bruising), and jaundice. If there is decompensation, what is the patients fluid
status? basing the latter on peripheral perfusion, pulse, mucous membranes, JVP, peripheral
oedema.
3. What features of malignancy are present? Cervical lymphadenopathy, nodular lesions when
palpating the liver, bruit on auscultation over the liver.
4. What do I think the underlying cause is? See below.
Classic cases:
1. Alcoholic liver disease: Dupytrens contracture, enlarged parotids.
2. Hepatitis B/C: Tattoos, track marks.
3. Hereditary haemochromatosis: finger prick marks from BM testing, arthropathy, bronze

pigmentation.
4. Primary biliary cirrhosis: Middle aged female, xanthelasma, excoriation marks, easy bruising
(due to CLD and impaired absorption of fat soluble vitamins), hepatosplenomegaly.
5. Autoimmune hepatitis: Vitiligo, scar from previous thyroidectomy.
Differential diagnosis:
▪ Toxic: Alcohol, methotrexate, amiodarone, isoniazid.
▪ Metabolic: Non-alcoholic steatohepatitis (NASH).
▪ Infective: Hepatitis B and C.
▪ Autoimmune: Primary biliary cirrhosis, autoimmune hepatitis, primary sclerosing cholangitis,

sarcoidosis.
▪ Hereditary: Hereditary haemochromatosis, alpha-1-anti-trypsin deficiency, Wilson’s disease,

glycogen storage disorders.
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Further investigations:
▪ Bedside tests: Urine dip (leukocytes and nitrates; pregnancy test if young female), ascitic
tap (fluid cell count and differential, protein, albumin, culture in aerobic/anaerobic blood
culture bottles).
▪ Bloods: FBC (anaemia, thrombocytopaenia, leukopenia), clotting (due to reduced production of

clotting factors, and prior to taps or drain insertion), U&Es (deranged electrolytes as a risk for
decompensation, monitoring therapy if on diuretics, risk of hepatorenal
syndrome), LFTs (albumin for synthetic function and SAAG, pattern of enzyme derangement if
hepatic or post-hepatic), glucose (risk of hypoglycaemia, HH associated with diabetes).
▪ Imaging: USS abdomen (to assess liver and spleen size; look for cirrhosis, liver masses, ascites;
assess portal pressures; once cirrhosis confirmed, an annual USS should be arranged to monitor
for HCC), MRCP (could be done prior to ERCP, if features of obstruction on USS).
▪ Special tests: If cirrhotic a liver screen including – HBV/HCV, autoimmune

screen including ANA and anti-mitochrondrial
antibodies, immunoglobulins, caeruloplasmin, ferritin, alpha-1-anti-trypsin, oesophageao-
gastro-duodenoscopy (surveillance for varices), also an then consider liver biopsy and/or ERCP.
Referral:
Probably hepatology, may require admission to hospital or day unit for tap or drainage, or assessment
for acute decompensation.
Management:
▪ Non-pharmacological: Dietician input, alcohol cessation, vaccinations (hepatitis,

pneumococcoal, and annual influenza), avoid hepatotoxic agents (including NSAIDs and herbal
remedies so educate the patient).
▪ Medical: Colestyramine (pruritus), laxatives (avoid constipation), adcal D3 (risk of osteoporosis),

propanolol (if has varices), quinolone antibiotics (levofloxicin etc for SBP prophylaxis if previous
episode), spironolactone +/- furosemide (if ascites), chlordiazepoxide+pabrinex (if current
alcohol excess).
▪ Surgical/procedural: Serial therapeutic paracenteses, transjugular intrahepatic portosystemic

shunt (TIPS), liver transplantation.
Possible questions:
1. How do you diagnose Spontaneous Bacterial Peritonitis (SBP)? Ascitic tap – positive if neutrophil
count >250 per ml.
2. What is the commonest cause of SBP? Escherchia coli.
3. If someone presented with abdominal swelling that is found to be ascites, what would be your
differential diagnosis?
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▪ Cirrhosis: Any of the causes listed above – alcohol related, infectious, immune,
iatrogenic (medications like methotrexate), or hereditary.
▪ Malignancy: Primary or secondary, solid organ or haematological.
▪ Heart failure, pancreatitis.
▪ Hypoalbuminaemia: Nephrotic syndrome, malnutrition.
▪ Infection: Tuberculosis.
▪ Endocrine: Hypothyroidism.
4. How much fluid usually needs to be present to be clinically detectable as ascites? 1500mls
though it can be less if very slim, and more if obese. An USS can detect smaller amounts of
<500mls.
5. How would you manage ascites? Establish the cause and manage/treat that if possible. Refer to
a dietician to educate on a salt restricted diet and maintaining adequate nutrition, and advise
the patient to avoid alcohol and get vaccinated against hepatitis B. Medications wise, usually
start with 100mg spironolactone and titrate up to 400mg a day, adding in frusemide if needed,
and monitoring closely for side-effects including electrolyte disturbance and deteriorating renal
function. If large volume, and causing respiratory distress, consider performing therapeutic
paracentesis, with 20% HAS at the same time if large volumes are removed. If due to a
malignant process and likely to be longstanding you can arrange insertion of a PleurX drain
which remains in place and can be used for regular small volume draining in the community by
district nurses. Surgical options include TIPS (transjugular intrahepatic portosystemic shunt) but
this increases the risk of hepatic encephalopathy.
6. Which forms of chronic liver disease are prone to causing hepatosplenomegaly? Primary biliary
cirrhosis, alcoholic liver disease, cirrhosis with hepatocellular carcinoma.
7. How would you manage a patient with primary biliary cirrhosis? Confirm the diagnosis with
deranged liver function tests, positive anti-mitochrondrial antibody, raised IgG and high
cholesterol; a liver biopsy demonstrates granulomas. If asymptomatic they have a good
prognosis and near normal life expectancy. If symptomatic the prognosis is poor with a life
expectancy of just a few years without transplant. Medical management involves replacing fat
soluble vitamins, avoiding alcohol, ursodeoxycholic acid (improves LFTs), cholestyramine (for
pruritus).
8. What is the cause of Wilson’s disease? Autosomal recessive defect in ATP7B on chromosome 13,
which means that there is reduced excretion of copper into the bile and subsequent
accumulation in other organs including the liver and brain. It results in low caeruloplasmin levels
and high urinary copper levels. Kayser fleisher rings are seen on slit lamp, and a liver biopsy may
be required. It is managed with dietary avoidance of high copper containing foods (shellfish,
avocados etc) and other hepatotoxic agents like alcohol, in addition to copper chelation with
penicillamine and zinc acetate. It can present with acute or chronic liver failure, haemolysis, and
neurological involvement including movement disorders (asymmetrical tremor or choreiform
movements) and psychiatric manifestations. Other complications include cardiomyopathy and
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Fanconi’s syndrome. Some will undergo liver transplant which will cure the underlying defect via
a form of surgical gene therapy.
*Example presentation: This is an elderly male with chronic liver disease as suggested by the presence of
palmar erythema, spider naevi, gynaecomastia, and reduced axillary hair. The liver is not palpable. There
is evidence of decompensation with purpura, icterus and ascites; but no encephalopathy was elicited
today. Their disease is complicated by portal hypertension with splenomegaly, ascites and
caput medusae. The spleen is felt 3 finger breadths below the costal margin, and is firm and non-tender.
Other notable findings on examination are the presence of a recent ascitic drain or tap mark and a tattoo
on the right forearm. My differential diagnosis includes hepatitis B and C, alcoholic and non-alcoholic
steatohepatitis, and a range of autoimmune and inherited diseases. To investigate the patient further I
would like a full set of bedside observations, to review stool and fluid balance charts, and send an ascitic
tap sample for cytology, microbiology and biochemistry. Blood tests should focus on assessing the liver
synthetic function and enzyme profile and include a screen for the diseases listed previously. An
abdominal ultrasound could confirm the presence of cirrhosis, focal liver lesions, splenomegaly and
ascites; whilst an endoscopic examination could confirm varices. A liver biopsy may be required to
confirm or stage the disease. Management would require education and counselling, advice to cease
alcohol or drug abuse if relevant, vaccination against hepatitis A and B, and referral to a dietician to
advise on low salt diet. If possible, the underlying disease should be treated, and long term complications
managed such as diuretics and elective paracentesis for ascites, antibiotics as per local guidelines for SBP
followed by antibiotic prophylaxis, laxatives aiming for 2 soft stools a day, beta blockers if varcies are
present, and rifaximin if they’ve experienced encephalopathy. Surgical options include transjugular
intrahepatic portosystemic shunt formation, although this increases the risk of encephalopathy; or liver
transplant if they meet eligibility criteria.
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Hepatomegaly
Possible scenarios: Fatigue, weight loss, anaemia, jaundice, abdominal pain.
Palpation of a liver: Mass in the right hypochondrium which is dull to percussion, you cannot get above
it or ballot it, it moves down on inspiration to the right iliac fossa. Note if there are co-existent signs of
chronic liver disease (palmar erythema, pupura, spider naevi, gynaecomastia, axillary hair loss), hepatic
decompensation (encephalopathy, ascites, coagulopathy, jaundice) or portal hypertension (caput
medusae, splenomegaly).
Classic cases:
1. Hepatocellular cancer or secondary malignancy: Cachexia, pale palmar creases and conjunctivae,
lymphadenopathy (esp.left supraclavicular fossa – Virchow’s node), scar from biopsy, ascites.
2. Polycystic liver disease: Either in isolation or with polycystic kidneys so look for signs of chronic
renal failure and renal replacement therapy.
3. Hydatid cyst: Case in a farmer, on individuals from higher prevalence areas (i.e.: Wales), history
of anaphylaxis, jaundiced, tender hepatomegaly.
▪ Bedside tests: Urine dipstick (haematuria may be seen in ADPCKD).
▪ Bloods: FBC (anaemia, white cell count, eosinophil count; platelets prior to invasive
procedures), LFTs (hepatic or obstructive picture, albumin for synthetic function), INR (synthetic
function and prior to invasive procedures)U&Es (co-existent renal impairment), ESR/CRP (may
be raised in infection or malignancy), virology (HIV, hepatitis B, hepatitis C), serological
examination for echinococcus (for hydatid disease).
▪ Imaging: Abdominal USS (mass lesions, cirrhosis, cystic lesions, potential for biopsy, co-existent
lymphadenopathy), CT CAP (to stage and identify primary and biopsy sites if malignancy
suspected).
▪ Special tests: Biopsy (for histological diagnosis if cancer likely, or diagnosis remains unclear after
the above, and hydatid cysts excluded).
Referral:
Consider gastroenterology.
Possible questions:
1. What are the commonest causes of HCC? Most cases arise in individuals with chronic liver
disease, particularly chronic hepatitis B and C, alcoholism, hereditary haemochromatosis, and
primary biliary cirrhosis. In some countries there is a link with aflatoxins.
2. What primary sites metastasise to the liver? GI tract tumours including stomach, pancreas and
colon; in addition to lung, breast, ovarian and melanomas.
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Liver Transplant
Examining a liver transplant: Look for the Mercedes Benz incision which is a bilateral rooftop with
sternal extension (though you may also get a single horizontal scar, or a reversed L shape scar), and any
accompanying scars (drains, Rutherford Morrison if concurrent renal transplant). The liver may or may
no be palpable, and may simply be related to size differences between the donor and recipient. Explain
that the patient has had a liver transplant and then go on to comment on graft function (as there is a
risk of rejection with vanishing bile ducts, biliary strictures) by ascertaining:
▪ Signs of chronic liver disease: Bear in mind that gynaecomastia can persist and dupytrens will
persist.
▪ Signs of decompensation: Encephalopathy, jaundice, ascites, purpura.
▪ Signs of portal hypertension: Caput medusae, splenomegaly, ascites.
The next step is to comment on complications of immunosuppression:
▪ General: Dysplastic skin lesions, warts, oral candida.
▪ Steroids: Finger prick glucose marks, hypertension, weight gain, interscapular fat pad, purpura,
acne.
▪ Tacrolimus: Finger prick glucose marks, hypertension.
▪ Cyclosporin: Hypertension, gum hypertrophy, tremor, evidence of renal transplant.
And finally on aetiology – for example alcohol is the commonest cause in the UK, followed by hepatitis B
and C (I can see tattoos which indicate possible exposure to blood bourn viruses).
The three commonest indications for liver transplant are:
▪ Cirrhosis
▪ Aute liver failure (i.e.: hepatitis A/B or paracetamol OD)
▪ Hepatocellular carcinoma
A similar scar can be seen in those who have undergone other hepatobiliary surgery.
Investigations:
▪ Bedside tests: Blood pressure (hypertension), finger prick glucose (diabetes

risk), temperature (infection).
▪ Bloods: FBC (anaemia, signs of infection or immunsuppression), U&Es (deterioration in renal

function may increase drug levels to toxic levels, CNIs may cause renal impairment), LFTs,
fasting glucose (diabetes risk), lipids (CVD risk factor management).
Management:
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▪ Non-pharmacological: Avoid live vaccines, alcohol cessation, smoking cessation, encourage

attendance at cancer screening programme appointments, avoid sun exposure.
▪ Medical: Always check medication interactions before prescribing (commonly interact through
P450 enzyme inhibition/induction or by causing renal impairment), CVD risk factor management
including anti-hypertensives (CCBs or ACE-is) and cholesterol lowering agents (pravastatin
preferred as does not interfere with CNIs), methylprednisolone (rejection), bone protection
measures (osteoporosis common).
▪ Surgical: Abscess drainage, reconstructions if leaks/bleeding, repeat transplants for graft failure.
Questions:
1. What conditions are treated with liver transplant? Chronic liver failure (alcohol, hepatitis B and
C, autoimmune hepatitis/PBC, PSC, hereditary haemochromatosis, HCC), acute liver failure
(paracetamol OD, Budd-Chiari, acute fulminant autoimmune hepatitis, Wilson’s disease), and
surgical gene therapy (familial amyloidosis, familial hypercholesterolaemia).
2. What features in an individual with chronic liver disease would warrant consideration of
transplantation? Progressive jaundice, diuretic resistant ascites, and hepatocellular carcinoma.
3. What risk scores can be applied to stratify short term prognosis in those with chronic liver
disease awaiting transplant without the above features? MELD (model for end stage liver
disease) score gives an indication of prognosis without liver transplantation.
4. What criteria are used to decide on liver transplantation in the emergency setting? King’s College
Criteria are used for super-urgent listings on the liver transplant waiting lists.
5. What conditions can recur post-transplant? Hepatitis B and C, hepatocellular cancer, primary
biliary cirrhosis, budd-chiari.
6. If there is a scar of both liver and renal transplant – what diseases would you think of? The
primary consideration is whether they have had an initial liver transplant, and then developed
renal failure secondary to calcineurin inhibitor use. Alternative possibilities include hepatitis C
with concurrent cryoglobulinaemia.
References:
Hirschfield GM et al. Adult liver transplantation: what non-specialists need to know. BMJ 2009. 338:
b1670.
*Example presentation: This elderly woman has undergone liver transplantation as evidenced by the
bilateral rooftop scars with sternal extension. The underlying cause for this could not be deduced on
examination today but the commonest reasons in the UK would be cirrhosis, acute liver failure secondary
to hepatitis A, B and paracetamol overdose, and hepatocellular carcinoma. The liver itself is not
palpable. The graft appears to be functioning well – there are no features of decompensation and the
patient is euvolemic. Suggestions of immunosuppression include Cushingoid body habitus with finger
prick glucose testing marks, gum hypertrophy and multiple dysplastic skin lesions. To investigate this
patient further I would like a full set of bedside observations, and a finger prick and urine sample to asses
for hyperglycaemia. I would like to draw bloods, being particularly interested in liver synthetic function
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and enzyme profile, renal function given it’s effects on immunsuppresive drug medications, lipid profile
and HbA1c, and inflammatory markers in view of infection risk. I would like to review any available
imaging, operative notes and biopsy results. She should be reviewed regularly within an MDT that
includes input from GP, specialist nurses, psychologists and pharmacists; in order to asses graft function
and long term risks of therapy including increased risk of neoplasia and cardiovascular disease. I would
advise her regarding the avoidance of drugs, alcohol and smoking; reducing sun exposure, attendance at
cancer screening programmes, medication compliance and avoiding over the counter or herbal remedies
without seeking specialist advice. She should have been vaccinated against hepatitis B and have received
the pneumovax, and told to avoid live vaccines. Commonly used immunsuppressive medications include
steroids and calcineurin inhibitors. If I had any suspicion of graft failure I would liaise urgently with her
specialist team.
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Polycystic Kidney Disease

Scenarios: Abdominal swelling, abdominal pain, haematuria, hypertension, previous intracranial
haemorrhage.
Examination of polycystic kidney disease: They have chronic renal disease secondary to polycystic
kidney disease as evidenced by the presence of visibly distended loins, ballotable flank masses which
you can get above and do not move with inspiration.
▪ There may be additional suggestive features including nephrectomy scars, craniotomy scars,
hemiparesis, or irregular hepatomegaly.
▪ My differential diagnosis for bilaterally palpably enlarged kidneys would include normal kidneys
in a slim patient, hydronephrotic kidneys secondary to obstruction, amyloidosis or conditions
like tuberous sclerosis and von hippel lindau. My differential diagnosis of a single palpable
kidney includes palpable right kidney in a slim individual, hypertrophy of a single functioning
kidney, neoplastic disease and unilateral hydronephrosis secondary to obstruction.
▪ Their current method of renal replacement therapy is
▪ Renal transplant: Rutherford Morrison scar in the right iliac fossa; well circumscribed,
smooth, firm mass felt below the scar about 8x5cm; dull to percussion; auscultate for a
bruit (may indicate arterial stenosis). If there is another similar scar with a mass also
below it in the left iliac fossa this could be a double transplant (i.e.: cadaveric, quality of
donor organs sub-optimal, so both transplanted) or a previous failed graft on right with
new in left. Look additionally for Cushingoid features and features such as gum
hypertrophy and hypertrichosis.
▪ Haemodialysis via AV fistula: First asses it’s location (radio-cephalic, brachial-cephalic, or

brachial-basilic), then feel for a thrill (three fingers along it’s length) and auscultate for a
bruit.
▪ Haemodialysis via venous catheter: Scars along the anterior chest wall from previous
vascular access points, if actually present – check for infection.
▪ Peritoneal dialysis: Intrabdominal catheter, herniae, laparotomy scar related to previous

catheter related peritonitis.
▪ Previous renal replacement therapy includes… (as above).
▪ Their current method of renal replacement is:
▪ Adequate: Euvolemic, no excoriation marks, no signs indicating active use of another

replacement method.
▪ Inadequate: Tachypnoea, raised JVP, peripheral oedema, asterixis, confusion,

excoriation marks, pericardial rub.
▪ There are complications of chronic renal disease including pale palmar creases, conjunctival
pallor, and/or parathyroidectomy scar.
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▪ To complete my examination I would like to:
▪ Dipstick the urine and take a blood pressure.
▪ Examine the external genitalia and hernieal orifices.
▪ Ask about family history, auscultate the heart to check for mitral valve prolapse, and
enquire about any previous aneurysms or brain imaging.
Investigation:
▪ Bedside tests: Electrocardiogram (), urine MCS and cytology (considering complications like UTI
and differential diagnosis of neoplasia).
▪ Bloods: Full haematological and biochemical profile being particularly interested in

their haemoglobin (), urea, creatinine and electrolytes (), and bone profile ().
▪ Imaging: Renal tract ultrasound scan ().
▪ Special tests: EPO and haematinics (assessing cause and best management of anaemia).
Treatment:
▪ Non-pharmacological: Education, signpost to appropriate support groups, referral for genetic

counselling, dietician referral.
▪ Medical: Treatment of co-existing issues such as hypertension, infection.
▪ Surgical: Renal transplant +/- nephrectomy, nephrectomy alone (for recurrent bleeding and
infections).
Questions:
1. What causes loin pain in patients with autosomal dominant polycystic kidney disease? Physical
compression due to their enlarged size, cyst rupture or haemorrhage, renal tract stones, and
urinary tract infections.
2. What genetic abnormalities are seen in patients with autosomal dominant polycystic kidney
disease? Most have a mutation in PKD-1 (encoding polycystin-1) on chromosome 16; whilst a
smaller number have a mutation in PKD-2 (encoding polycystin-2) on chromosome 4.
3. What are the extra-renal features of autosomal dominant polycystic kidney disease? Hepatic
cysts, intracranial berry aneurysms with risk of subarachnoid haemorrhage, and mitral valve
prolapse.
4. Which renal cystic conditions are at high risk of neoplastic transformation? Von hippel lindau
disease and tuberous sclerosis.
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Renal Transplant and Dialysis

Scenarios: Abdominal pain, reduced urine output, fatigue.
Examining renal transplants:
1. What is the underlying aetiology of the renal disease?
▪ Diabetes: Finger prick diabetic marks, evidence of insulin injections i.e.: lipoatrophy and
lipohypertrophy.
▪ Hypertension
▪ Autosomal dominant polycystic kidney disease: Ballotable flank masses which you can
get above and do not move with inspiration, nephrectomy scar.
▪ Systemic lupus erythematosus (SLE): Reducible arthopathy of the hands (Jaccouds),

photosensitivity, scarring alopecia, butterfly rash which is erythematous and shows
follicular plugging and spares the nasolabial folds.
▪ Alport’s syndrome: Hearing aids.
▪ Tuberous sclerosis: Subungual fibromas, adenoma sebaceum, shagreen patches, ash leaf
macules.
▪ MPGN type 2: Lipodystrophy.
2. What is their current method of renal replacement therapy? Rutherford Morrison scar in the
right iliac fossa; well circumscribed, smooth, firm mass felt below the scar about 8x5cm; dull to
percussion; auscultate for a bruit (may indicate arterial stenosis). If there is another similar scar
with a mass also below it in the left iliac fossa this could be a double transplant (i.e.: cadaveric,
quality of donor organs sub-optimal, so both transplanted) or a previous failed graft on right
with new in left. Be aware that a small number of individuals with type 1 diabetes have
undergone a simultaneous pancreas-kidney transplant and in which case there is a midline
laparotomy scar and often a left sided renal transplant.
3. What renal replacement therapy have they used in the past?
▪ Haemodialysis via AV fistula: First asses it’s location (radio-cephalic, brachial-cephalic, or

brachial-basilic), then feel for a thrill (three fingers along it’s length) and auscultate for a
bruit.
▪ Haemodialysis via venous catheter: Scars along the anterior chest wall from previous
vascular access points, if actually present – check for infection.
▪ Peritoneal dialysis: Intrabdominal catheter, herniae, laparotomy scar related to previous

catheter related peritonitis.
4. How well is the transplant working? Tachypnoea, raised JVP, peripheral oedema, asterixis,
confusion, excoriation marks, pericardial rub OR euvolemic and absence of signs indicating
active use of another method of replacement.
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5. What evidence of end stage renal disease are present? Pale palmar creases, conjunctival pallor,
parathyroidectomy scar, renal osteodystrophy (may look like severe finger clubbing, but in fact
there is resorption of the distal phalanx).
6. What complications of renal transplant are evident?
▪ Steroids: Finger prick glucose marks, hypertension.
▪ Ciclosporin: Finger prick glucose marks, hypertension, hirsuitism, gum hypertrophy.
▪ Tacrolimus: Finger prick glucose marks, tremor.
▪ Mycophenolate mofetil: Pale palmar creases, conjunctival pallor, oral ulcers.
▪ Azathioprine: Pale palmar creases, conjunctival pallor, icterus.
▪ Sirolimus: Pale palmar creases, conjunctival pallor, poor wound healing, peripheral
oedema, proteinuria.
▪ Non melanoma skin cancers: SCC and BCC.
Investigations: Patients require frequent monitoring in the immediate phase after transplantation, and
after that, require at least annual review screening for malignancy, cardiovascular disease, and drug
toxicity.
▪ Bedside tests: Urine dipstick (blood, protein, glucose), blood pressure (raised), finger prick
glucose (raised due to aetiology or medications), ECG (saddle shaped ST elevation and PR
depression of pericarditis, LVH)
▪ Bloods: FBC (anaemia), U&Es (creatinine, urea and potassium may be high), bone profile (hypo
or hypercalcaemia, hyperphosphatemia), glucose (raised), HbA1C (raised), iron
stores/B12/folate (need to be adequately supplemented to optimise Hb), EPO (to determine if
EPO supplementation would be useful if Hb low despite haematinic replacement), vitamin
D (low), PTH (high in secondary or tertiary hyperparathyroidism).
▪ Imaging: USS renal tract +/- doppler studies (obstruction, stenosis, thrombosis, leaks).
▪ Special tests: Renal biopsy (for surveillance and to investigate graft deterioration).
Management:
▪ Non-pharmacological: Smoking cessation, dietary sodium/potassium restriction, minimal alcohol

intake, avoid sun exposure, avoid live vaccines.
▪ Medical: When starting medications review for possible interactions and toxicity profiles (i.e.: no
P450 inhibitors if on siro/tac/cyclo, no NSAIDs), sodium bicarb and loops for hyperkalemia,
phosphate binders for renal osteodystrophy, sodium bicarb for acidosis, vitamin D
supplementation, replace haematinics and consider IV iron and/or EPO.
▪ Surgical: Parathyroidectomy.
Questions:
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1. What are the commonest causes of renal transplant in the UK? Diabetes
mellitus, glomerulonephritis, hypertension; other causes of end stage renal failure
are polycystic kidney disease, obstructive uropathy and renovascular disease.
2. What are the indications for urgent dialysis? Refractory hyperkalaemia, acidosis or fluid
overload; uraemic pericarditis or encephalopathy; removal of drugs in severe overdoses (i.e.
salicylates, lithium).
3. What complications can develop in an individual with a renal transplant? Graft complications
include rejection, nephrotoxicity of calcineurin inhibitors (cyclosporin and tacrolimus),
recurrence of original disease in the graft itself, renal artery thrombosis and stenosis. Other
complications include infection and increased malignancy risk secondary to immunsuppression,
and accelerated cardiovascular disease.
4. At what stage would you refer someone for renal replacement therapy? Individuals should be
referred to a nephrologist if in CKD stage 4-5 (eGFR<30) or if stage 3 but rapidly progressive.
Ideally they are seen at least 1 year prior to the anticipation of needing RRT.
5. What are the complications of an AV fistula? Infection (cellulitis, abscess, bacteraemia, source of
septic emboli), thrombosis, stenosis (make a fist and place the arm in dependent position, watch
vein fill, lift arm up and fistula should collapse, if it does’t, there is stenosis), aneurysm
formation, steal syndrome (weak pulse, cold and painful hand, contracture), ischaemic
polyneuropathy, and high output cardiac failure (greatest risk if more proximal).
6. What are the options for vascular access in renal replacement therapy? In order of preference –
AV fistula, AV graft, tunnelled venous catheter, non-tunnelled venous catheter.
References:
Siddiky A et al. Management of arteriovenous fistulas. BMJ. 2014; 349.
Thiruchelvam P et al. Renal Transplantation. BMJ. 2011; 343.
*Example presentation: This middle aged female has end stage renal failure. The most likely cause is
diabetic nephropathy as evidenced by the presence of finger prick glucose testing marks and insulin at
the bedside. My differentials would include hypertensive nephropathy, glomerulonephritis, autosomal
dominant polycystic kidney disease, obstructive and renovascular disease. The current mode of renal
replacement therapy is a renal transplant situated in the right iliac fossa, and there is evidence of
previous renal replacement with an AV fistula in the right forearm, and scars on the abdomen consistent
with peritoneal dialysis catheter insertion. The current method appears to be functioning adequately.
Complications of immunusuppression are evident with Cushingoid body habitus, gum hypertrophy and
dysplastic skin lesions. To investigate this patient further I would like a full set of bedside observations
and to review the fluid balance chart. On the blood tests I would be particularly interested in her
haemoglobin, urea, creatinine, electrolytes, bone profile, lipids and HbA1c. I would like to review any
recent ultrasound imaging of the renal tract and renal biopsy results. She requires regular review to
assess graft function and monitor for complications of therapy, particularly the increased risk of
cardiovascular and neoplastic disease. This is best done within an MDT environment with input from the
GP, specialist nurse, psychologists and renal pharmacists. I would ensure that she was educated
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regarding healthy diet and exercise, smoking cessation, reducing sun exposure, and the importance of
medication compliance and avoidance of over the counter or alternative therapies without specialist
advice. She should be vaccinated against hepatitis B and pneumococcus and avoid live vaccines and
individuals with infections like chickenpox. Immunsuppression is typically with steroids, calcineurin
inhibitors and sirolimus. I would seek urgent specialist advice if there was evidence of deteriorating graft
function.
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Splenomegaly
Possible scenarios: anaemia, fatigue, lympadenopathy, early satiety, easy bruising, night sweats.
Palpation of a spleen: Moves down with inspiration, notch on the medial surface, can’t get above it, dull
to percussion, not ballotable.
Classic cases:
1. Felty’s syndrome: symmetrical deforming polyarthropathy mainly affecting the small joints of
the hands which spares the distal interphalangeal joints (DIPJs) and is associated with ulnar
deviation and dorsal subluxation of metacarpophalangeal joints (MCPJs), and nodules on the
extensor aspects of the forearm. Specific issues to address – presence of immunosuppression,
presence of infection. Specific tests to request – FBC (neutrophil count), rheumatoid factor
(almost always positive in these patients).
Differential diagnosis: Can split via size (massive >8cm, moderate 4-8cm or tip <4cm) or by category…
▪ Haematological: lymphoma and myelodysplastic syndromes, particularly CML and myelofibrosis,

or smaller enlargements due to haemolytic anaemia.
▪ Pressure: portal hypertension secondary to liver disease or splenic vein thrombosis.
▪ Infection: malaria, visceral leishmaniasis or smaller enlargements due to EBV and bacterial
endocarditis.
▪ Inflammatory: Felty’s syndrome.
▪ Infiltration: Gauchers or amyloidosis.
▪ Bedside tests: urine dip (haematuria in the presence of renal infarcts in endocarditis).
▪ Bloods: FBC (anaemia, polycythaemia, high or low white cell or platelet counts), blood film (as
for FBC, also cell morphology), LFTs (co-existing liver disease or evidence of
haemolysis), LDH (haemolysis), virology (HIV, hepatitis), thick and thin blood films (malaria).
▪ Imaging: USS abdomen (to assess spleen size, establish if co-existing hepatic disease, portal
hypertension, splenic vein thrombosis), may need to consider progressing to CT CAP (to
establish lymphadenopathy).
▪ Special tests: bone marrow aspirate and trephine (haematological malignancy), lymph node
biopsy (haematological malignancy).
Referral:
Probably haematology, but may also require rheumatology or hospital admission for urgent evaluation.
Possible questions:
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1. What is the differential diagnosis of hepatosplenomegaly? Haematological (myeloproliferative –

CML or lymphoproliferative disorders – lymphoma and CLL), infective (hepatitis B, hepatitis C,
EBV, CMV and malaria), chronic liver disease with portal hypertension (alcoholic, medications,
NASH, autoimmune), and hereditary conditions (Wilsons, haemochromatosis, glycogen storage
disorders).
2. What are the indications for splenectomy? Traumatic injury to the spleen (+ significant blood
loss, haemodynamically unstable, progressive anaemia), haematological disease not responding
to conservative or medical management (including ITP, hereditary spherocytosis, thalassemia
major) rarely in lymphoma.
3. What are the complications of splenectomy? Infection (encapsulated organisms like neisseria,
pneumococcus, and haemophilus; malaria and babeosis), thrombocytosis post-operatively.
4. What measures can be taken to protect people with splenectomy? If possible – pre-operative
vaccination >2 weeks beforehand, prophylactic penicillin V, medic alert bracelet, advice to seek
medical attention early in infection.
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Cardiology
1. Inspection at end of bed: Oxygen, GTN.
2. Auscultation at end of bed: Listen if you can hear prosthetic clicks.
3. Inspection of the patient: Think:
▪ Patient age and gender.
▪ Eg: in the absence of scars – a young-middle aged patient should make get you
ready for ASD, VSD, PDA, HOCM, MVP and bicuspid aortic valve.
▪ Presence of scars.
▪ Eg: With venous and arterial harvesting scars at least suggests CABG +/- valve
replacement in elderly, whereas in the young should raise suspicion of complex
congenital heart disease.
▪ If valve replacement suspected remember that older patients may well have
tissue valves, whereas young patients will have metallic valves (unless a young
woman planning childbirth).
▪ Dysmorphic features.
▪ Low set ears think Turner’s or Noonan’s.
▪ High set ears think Williams.
▪ Repaired cleft palate think DiGeorge.
▪ Visible neck pulsations.
▪ Eg: Corrigans, prominent arterial pulsations of PDA, or giant V waves.
4. Hands: Arachnodactyly, triphalangeal thumb (Holt-Oram Syndrome), splinter haemorrages,

oslers nodes, janeway lesions; then feel for clubbing, quincke’s sign, capillary refill.
5. Wrist: Radial pulse (rate and rhythm), radio-radial delay.
6. Arms: Brachial pulse (volume and character), collapsing pulse (feel with three fingers, place arm
down so it fills, feel very lightly over the radial, support elbow with your hand behind it, then lift
the arm up straight, feel for the collapse, and then drop it down again where the pulse with
disappear again), radial hypoplasia (Holt-Oram Syndrome), request a blood pressure noting the
pulse pressure.
7. Eyes: Exophthalamos (Graves), xanthelasma, corneal arcus, conjunctival pallor, dislocated

lenses/ectopia lentis.
8. Face: Malar flush, bobbing of the head called Muller’s sign.
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9. Mouth: High arched palate, central cyanosis, mullers sign/pulsating uvula, dentition.
10. Neck: Inspect the JVP (look tangentially i.e.: leaning across the patients midline and looking to
your left), utilise hepatojugular reflux, feel the carotid pulse (volume and character), look for
scars from previous or current neck lines or tunnelled lines (suggestive of long antibiotic
courses, or a possible embolic source of infection for, infective endocarditis), plucked chicken
skin (pseudoxanthoma elasticum).
11. Inspect the precordium: Scars (midline sternotomy, left sided thoracotomy scars), pacemaker,
visible apex beat, abnormal pulsations, gynaecomastia (digoxin, spironolactone).
12. Palpation at the precordium: Palpate for the apex beat (place 1 finger at the most distal point
and count down to demonstrate to the examiner – if not palpable, check over on the right hand
side), feel for a right ventricular heave at the left sternal edge (elbow out and perpendicular to
the chest) and feel for thrills (palpable murmurs) or palpable 2nd heart sounds (pulmonary
hypertension or an aortic valve replacement).
13. Auscultation of the heart: Palpate at the carotid pulse for timing, and then listen with the
diaphragm at the four areas; note if you can hear the 1st (closure of mitral and tricuspid) and
2nd (aortic and pulmonary) valves, if there is one noise or if there is a split sound, if the sound is
prosthetic in nature, if there are added sounds (Grade 1 murmur = very soft, only just audible, 2
= soft but immediately audible, 3 = clearly audible, no thrills, 4 = clearly audible with thrills, 5 =
audible with stethoscope barely touching the chest, 6 = heard without stethoscope). Then with
diaphragm at axilla. Then switch to bell at mitral area. Roll to left and listen with bell at mitral.
Sit forward and listen with diaphragm at lower left sternal edge in expiration. Listen with bell or
diaphragm at carotids. Stay in that position.
14. Auscultation of the lungs: Listen at the lung bases posteriorly.
15. Palpate: For sacral oedema, for peripheral oedema.
16. Inspect the legs: For CABG scar.
17. Complete the examination:
▪ Palpate the peripheral pulses.
▪ Measure their temperature.
▪ Examine the fundi.
▪ Obtain a urine dipstick for protein, blood or glucose.
▪ Perform an ECG.
The JVP (internal jugular pulse)…
A wave for Atrial contraction, X descent for atrial relaXation, C wave for triCuspid Contraction, V wave
for right Ventricle contraction in the context of a filling right atrium, Y descent is atrial emptying.
Examine with patient at 45 degrees, head turned to left, looking between the sternal and clavicular
heads of the sternocleidomastoid, ideally with left hand shining a pen torch from the back tangentially
20 | P a g e
across the right side of the neck, and the right hand feeling the patients carotid pulse on the left. In
terms of timing it the C wave that should be corresponding to carotid pulse/systole/closure of tricuspid
and mitral valves, the A wave falls immediately before this, and the V wave a bit longer after this. The
peaks of a and v waves are usually about equal. In health, the JVP falls during inspiration. Abnormalities
are either due to:
▪ Hypovolemia
▪ Impaired cardiac filling
▪ Giant A waves: Tricuspid stenosis, pulmonary stenosis, pulmonary hypertension,

restrictive cardiomyopathy. Uniform in height and occur during each cardiac cycle.
▪ Cannon A waves: When atria contract against a closed tricuspid valve (i.e.: complete
heart block, single chamber cardiac pacing, normal atrial contraction at time of a
ventricular ectopic). Variable in height and occur sporadically.
▪ Absent A waves: Atrial fibrillation.
▪ CV waves: Severe tricuspid regurgitation – when the C and V waves merge together in
time with the carotid pulse.
▪ Brisk X and Y descents: giving a flicking quality suggest constrictive pericarditis or right
ventricular failure.
▪ Kussmal’s sign: JVP rises during inspiration in constrictive pericarditis.
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Absent Radial Pulse

Scenario: You start the exam and realise that one of the radial pulses is absent or diminished.
Your next steps:
▪ Compare the capillary refill times on each side, checking for BM testing pricks on the fingertips
at the same time, and request a blood pressure in both arms.
▪ Look carefully at the skin overlying the radial artery on that side to see if there are scars from
previous interventions (e.g: ABGs, arterial lines, radial artery harvest for CABG). If not then scan
up the arm, over the shoulder and clavicle for scars or evidence of trauma. If still no sign look
carefully at the thorax itself for scars indicating previous cardiothoracic surgery.
▪ Proceed with cardiovascular examination as normal – brachial artery palpation; inspect eyes,
face, mouth; carotid artery palpation; and examine the heart itself listening for murmurs and
added sounds that might suggest underlying TOF or co-arctation (unless repair done – the latter
would normally cause radio femoral delay but some cases involve a co-arctation proximal to the
origin of the left subclavian so can affect it on occasion).
▪ With the patient sitting forward listen for bruits at the carotid arteries (suggestive of
atherosclerosis) and listen at the lung bases. Whilst you have them there also listen between the
scapulae for additional murmurs and bruits.
▪ Finish off by checking for peripheral oedema and moving on to auscultate the subclavians,
abdominal aorta, renal arteries, femoral arteries and feel for radio-femoral delay.
Differential diagnosis: If symmetrically difficult to feel – consider low output states as occur in heart
failure.
▪ Anatomical: Unusual anatomical course, congenital absence, external compression of proximal

artery by cervical rib, lymphadenopathy, mass lesions.
▪ Iatrogenic: Local trauma like ABG, arterial line, or radial artery harvest; or issues proximal to this
related to surgical correction of cardiac defects (e.g.: tetralogy of fallot blalock procedure,
subclavian patch repair of co-arctation of the aorta).
▪ Atherosclerosis: Smoking, high BMI, hypertension, hypercholesterolaemia, diabetes.
▪ Embolism: Atrial fibrillation.
▪ Vasculitis: Giant cell arteritis, Takayasu’s arteritis.
Investigations:
▪ Imaging: USS doppler (to asses sites of obstruction, look for evidence of wall oedema indicative
of inflammation), MR arch aortogram (detailed information on the aortic arch if diagnoses like
subclavian stenosis suspected).
Questions:
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1. What is the subclavian steal phenomenon? Occurs when there is stenosis or occlusion of the
subclavian artery proximal to the origin of the vertebral artery so that blood ends up diverting
up the carotids and then back down the vertebral artery to reach the remaining vasculature in
the arm. This diverts blood away from the brain causing neurological symptoms on using the
affected arm – this could be sensory, visual, auditory, olfactory or a total collapse. There may
also be accompanying features like arm claudication on use.
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Aortic Regurgitation
Scenarios: Shortness of breath, angina, syncope, dyspnoea.
Examination of aortic regurgitation: On general inspection take note of any features that indicate an
underlying connective tissue disorder or rheumatological disease. Look at the hands for Quincke’s
sign and asses for a collapsing pulse. Inspect inside the mouth for the pulsating uvula of Muller’s sign,
and check if the head is bobbing as part of De Musset’s sign. Looking at the neck, asses for prominent
carotid pulsations suggestive of Corrigan’s sign. Feel for the displaced apex. Auscultate for an early
diastolic murmur heard loudest at the lower left sternal edge in expiration. Check for additional features
including heart failure (raised jugular venous pressure, 3rd heart sound, bi-basal crepitations, peripheral
oedema) and infective endocarditis (see below). If you are confident about the diagnosis and wish to
elicit further features, proceed to check for Durozier’s sign (systolic murmur over femorals with proximal
compression and diastolic murmur with distal compression) and Traube’s sign (pistol-shot femorals with
systolic and diastolic sounds).
Classic cases:
▪ Connective tissue disorders: Marfan’s (tall, arachnodactyly, hypermobility, high arched palate),
ehlers danlos (hypermobility, hyperextensible skin, fish mouth scars), psuedoxanthoma
elasticum (plucked chicken skin appearance at the neck, axillae and antecubital fossae),
osteogenesis imperfecta (blue sclerae though these can be seen in the other three conditions as
well, bony deformities from prior poor healing of fractures).
▪ Ankylosing spondylitis: Exaggerated thoracic kyphosis and loss of lumbar lordosis with
compensatory extension of the neck and limited neck movements. If found, tell the examiner
that you would like to enquire about features of inflammatory joint pain and uveitis, auscultate
the lung apices for fibrosis and dipstick the urine for proteinuria of amyloidosis.
▪ Infective endocarditis: Splinter haemorrhages, clubbing, leukonychia, oslers nodes, janeway

lesions, pale palmar creases, conjunctival pallor, long lines for antibiotics, fever, evidence of
previous surgery.
▪ Syphilis: Argyll robertson pupil (small, irregular, depigmentation of the iris, accommodates but
does not react to light).
▪ Mixed valve disease: Listen for an accompanying ESM radiating to the carotids of aortic sclerosis.
If this is the case you will need to decide which is the predominant lesions and bear in mind that
even if the absence of a stenotic valve you can get a flow murmur across the aortic valve in the
presence of regurgitant valves. The latter would not radiate and gives a “to-and-fro” quality to
the sound.
There is a similar murmur in pulmonary regurgitation either as a primary phenomenon or as a Graham

Steell murmur secondary to pulmonary hypertension. The differential for an underlying cause of aortic
regurgitation is:
▪ Degenerative: Bicuspid valves, age and factors like hypertension.
24 | P a g e
▪ Infective: Infective endocarditis, rheumatic fever, tertiary syphilis.
▪ Rheumatological: HLA B27 associated arthopathies like ankylosing spondylitis.
▪ Connective tissue disorders: Marfans, ehlers danlos, psuedoxanthoma elasticum, osteogenesis

imperfecta.
If acute, think of dissection, infective endocarditis and prosthetic valve failure.
Investigations:
▪ Bedside tests: Blood pressure (looking for a wide pulse pressure) and ECG (conduction blocks,
LVH criteria), and then for features of infective endocarditis with temperature, urine
dipstick (haematuria, proteinuria), and fundoscopy (Roth spots, Becker’s sign of retinal
pulsations).
▪ Bloods: FBC (anaemia, inflammatory markers), CRP/ESR (raised in infective

endocarditis), treponemal tests (specific like EIA or TPHA, and non-specific like the VDRL and
RPR).
▪ Imaging: Chest radiograph (pulmonary oedema, pleural effusions, kerley B

lines), echocardiogram (left ventricular function, valve anatomy, aortic root size, vegetatios).
▪ Special tests:
Management:
▪ Non-pharmacological: Education.
▪ Medical: Manage co-existing heart failure, manage underlying cause (e.g.: antibiotics for
infective endocarditis, penicillin for syphilis).
▪ Surgical: Aortic valve replacement (biological or mechanical).
Questions:
1. What might be the explanation if you heard a mid-diastolic murmur at the apex in a patient in
whom you suspect aortic regurgitation? Austin flint murmur.
2. What is the differential diagnosis of Corrigan’s sign? Corrigan’s sign occurs because you are
visually seeing the collapsing pulse within the carotid arteries and can be seen patent ductus
arteriosus and other causes of a hyper dynamic circulation (e.g.: sepsis, thyrotoxicosis,
anaemia). A rarer cause of prominent pulsations here is due to collateral flow in co-arctation of
the aorta. Large pulsations within the jugular venous system can mimic this such as the large CV
waves in tricuspid regurgitation, cannon A waves in heart block and giant A waves tricuspid
stenosis and restrictive cardiomyopathies. Remember that pulsations within the venous system
will not be palpable and can be obliterated by pressure.
3. Which features on examination would make you think that the patient had severe aortic
regurgitation? Features of heart failure, wide pulse pressure, and presence of an austin flint
murmur, soft S2.
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4. What are the indications for valve replacement? Acute aortic regurgitation, symptomatic with
heart failure, asymptomatic but aortic root diameter >50mm or left ventricular end-systolic
diameter 55mm or ejection fraction <50%.
5. How would you monitor a patient with Marfan’s? Echocardiogram looking at root diameter and
valve function, consider eye referral, beta blockers to prevent aortic root widening, then annual
echocardiogram surveillance following that with surgical referral for aortic valve replacement
and aortic root repair (when root >5cm).
6. What are the specific elements to examining a patient with Marfans? Check how tall they are,
ask them to spread their arms out wide to demonstrate disproportionately wide arm span, ask
them to place their thumb in their first (it may exceed the ulnar side of the hand) and to wrap
their thumb and little finger round their wrist (they will overlap), ask them to look quickly from
one side to another to see the shimmering/shaking of the iris (iridonesis) in lens dislocation.
Mention relevant additional findings like kyphoscoliosis or chest wall abnormalities.
7. How does homocysteinuria differ from Marfans? Similar phenotype, but inherited autosomal
recessively, not associated with aortic root disease, but is associated with learning difficulties
and recurrent aortic and venous thromembolic events. In addition, lens dislocation tends to be
upwards in Marfans but downwards in homocysteinuria.
8. What is the differential diagnosis of Marfan’s syndrome? Homocysteinuria and MASS syndrome
(Mitral valve prolapse, mild non-progressive Aortic root dilatation, Skin and Skeletal
manifestations).
9. What is the mode of inheritance of Marfan’s Syndrome? Autosomal dominant with complete
penetrance but variable phenotype, due to fibrillin-1 defect, diagnosed using the Ghent criteria.
26 | P a g e
Aortic Stenosis
Possible scenarios: Breathlessness, syncope, palpitations, orthopnoea, PND, chest pain.
Examination of aortic stenosis: Palpate the pulse at the brachial/carotid and note that it is slow rising
and of small volume, request a BP which may have a narrow pulse pressure, feel for a heaving but
undisplaced apex and thrill in the aortic area. Listen for the heart sounds – the 2nd heart sound may
split (reversed) with A2 after P2 because of the stenotic valve taking a long time to close (although the
magnitude of the split will vary will respiration), or it may be very soft/inaudible because of the slow
leaflet movement. There may be an opening click in systole just before the murmur starts, or an
additional sound just before S1 which signifies S4 due to the stiffened ventricle. Opening clicks tend to
be quite sharp, whereas S4 tends be a very low frequency sound. Then listen to the murmur –
an ejection systolic murmur which is loudest in aortic area on expiration and radiates to the carotids.
Then asses for complications such as heart failure (creps at lung bases, sacral oedema, peripheral
oedema, S3), anaemia (angiodysplasia), and features of infective endocarditis (oslers nodes, janeway
lesions, splinter haemorrhages). To complete my examination I would like to:
▪ Enquire about symptoms of angina, dyspnoea and syncope.
▪ Palpate the peripheral pulses.
▪ Get a blood pressure looking for a narrow pulse pressure.
▪ Get an ECG looking for left ventricular hypertrophy or conduction blocks.
▪ Obtain a temperature, fundoscopy for Roth Spots, and urine dipstick for haematuria and
proteinuria in case of infective endocarditis.
Classic cases:
▪ Co-arctation of the aorta: There may be physical features of Turner’s or neurofibromatosis,

notching along the inferior surface of the ribs from collaterals, radio-femoral delay,
hypertension, bruits over the scapula, left infraclavicular area and over the thoracic spine
posteriorly.
▪ Heyde’s syndrome: Aortic stenosis, angiodysplasia, anaemia.
▪ William’s syndrome: Elfin facies, cognitive dysfunction.
▪ Aortic stenosis (senile calcification, underlying bicuspid valve, rheumatic heart disease).
▪ Aortic sclerosis or flow murmur.
▪ Pulmonary stenosis or mitral regurgitation.
▪ Atrial septal defect: Fixed splitting of 2nd heart sound with a systolic murmur over the pulmonic
valve due to increased blood flow through the septum into the right heart (loudness of murmur
unaffected by respiration as defect equalises pressures anyway).
27 | P a g e
▪ Hypertrophic obstructive cardiomyopathy, ventricular septal defect.
▪ Bedside tests: ECG for conduction problems (calcified aortic valve, endocarditis) and left
ventricular hypertrophy, urine dipstick for haematuria (infective endocarditis), fundoscopy (Roth
spots in infective endocarditis), observations including a temperature (infective endocarditis).
▪ Bloods: FBC, CRP and ESR for anaemia and raised inflammatory markers suggestive of infective
endocarditis, U&Es to asses renal function in the context of cardiac and anti-hypertensive
medications.
▪ Imaging: Chest radiograph (left sided heart failure with pulmonary oedema, cardiomegaly,
effusions, kerley B lines, calcified valve); echocardiogram (confirm diagnosis, asses severity,
asses left ventricular function).
▪ Special tests: Coronary angiogram (directly measure pressure gradients across the valve, asses
for co-existing coronary artery disease that could cause similar symptoms and/or be managed
with a CABG at the same time as valve replacement).
Management:
▪ Conservative: Educate the patient, ask them to report symptoms of angiona/syncope/dyspnoea,

arrange regular follow-up and echocardiography.
▪ Medical: Manage cardiovascular co-morbidities and complications such as heart failure; I would
be cautious with ACEi and GTN in those with severe aortic stenosis as they could cause profound
hypotension by reducing after load.
▪ Surgical: Balloon valvuloplasty, valve replacement (mechanical or biological), Ross procedure

(pulmonary valve autograft, with the patients pulmonary valve replaced by a cadaveric valve –
primarily used in children) or transcatheter aortic valve implantation (TAVI).
Possible questions:
1. What are the clinical indicators of severe aortic stenosis? Narrow pulse pressure, quiet S2,
presence of S4, heaving apex or palpable thrill, late peaking of murmur, and bi-basal crepitations
on auscultation of the lungs.
2. What are the indications for valve replacement in aortic stenosis? Surgical intervention is
typically advised in a patient who is symptomatic with angina/dyspnoea/syncope, or those with
deterioration in their ejection fraction to <40% or gradient >50mmHg or valve area <1cm2.
3. What might be the explanation if you heard a pan systolic murmur at the apex in a patient in
whom you suspect aortic stenosis? Co-existent mitral valve disease (e.g.: rheumatic heart
disease) or Gallavardin phenomenon. The latter is due to the dissociation of the murmur of
aortic stenosis, with the harsh bit heard at the aortic area and the musical bit transmitted
through to the apex. It is a systolic murmur at the apex which does not radiate to the axilla.
28 | P a g e
4. How does being in atrial fibrillation change the JVP and the heart sounds? Absence of atrial
contraction means there will be no ‘a’ wave in the JVP and no fourth heart sound to
auscultation.
5. What are the key features of Williams Syndrome? Microdeletion of genes on chromosome 7
which can show autosomal dominant inheritance but is typically a de novo mutation. It causes
hypercalcaemia and supravalvular aortic stenosis. Phenotypic features include short stature,
stellate pattern on the iris, depressed nasal bridge, prominent lips, and small chin. They are
often noted to have well developed social and language skills.
*Example presentation: To complete my examination I would like to have a blood pressure, and palpate
the peripheral pulses including feeling for a radio-femoral delay, I would also like to assess for features of
infective endocarditis with a temperature, urine dipstick for proteinuria and haematuria, and by
performing fundoscopy for Roth Spots. My presumed diagnosis for this woman is aortic stenosis. This is
demonstrated by the presence of an ejection systolic murmur heard loudest at the aortic area in
expiration which radiates to the carotids. She is in sinus rhythm at 88 beats per minute. Evidence of
severe aortic stenosis include the presence of a slow rising, small volume pulse, quiet S2 and heaving
apex but I could not hear an S4 or feel an aortic thrill. With regards to complications she has bibasal
crepitations indicating left heart failure, but the jugular venous pressure is not raised and there is no
peripheral oedema. There are no peripheral stigmata of infective endocarditis. A similar murmur can
occasionally be heard in aortic sclerosis, flow murmurs and pulmonary stenosis, but in totality these are
less likely. The underlying cause of her aortic stenosis could be degenerative aortic valve disease with
age, bicuspid valve or previous rheumatic fever as a child. To investigate her further I would like to take a
history in particular asking about syncope, angina and dyspnoea and request an electrocardiogram for
left ventricular hypertrophy, left axis deviation and conduction abnormalities. On her blood tests I would
like a full haematological and biochemical profile being particularly interested in her haemoglobin,
cardiovascular risk factors including lipids and HbA1c and her renal function as it may affect the
management of co-morbidities such as heart failure. The imaging modality of choice would be an
echocardiogram with critical AS defined as a valve area of <0.6cm2 and a gradient >40mmHg and
additionally looking for accompanying valve lesions, vegetations and left ventricular function. Non-
pharmacological measures include counselling on the disease and arranging regular review. Medical
management is focused on optimising co-morbidities such as heart failure and hypertension with
cautious use of medications that reduce afterload, such as ACE-inhibitors and GTN. Surgical corrective
options are primarily open surgery for mechanical or biological valve replacement, or transcatheter
aortic valve implantation (TAVI).
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Aortic Valve Replacement

Examination of an aortic valve replacement:
▪ Inspection: Sternotomy scar (traditional), upper mini-sternotomy (about 4cm vertical scar over
upper sternum), mini-thoracotomy (horizontal 4cm scar below right nipple).
▪ Auscultation: If metallic – metallic second S2, which may be associated with an opening click and
an ESM; if both sounds loud consider a starr-edwards (ball and cage). If tissue – there may just
be an ESM representing a flow murmur.
▪ Extra points: Evidence of valve failure includes early diastolic murmur of atrial regurgitation and
displaced + thrusting apex, prominent carotid pulsations, collapsing pulse or accompanying
features of heart failure. Also comment on “after-issues” with anticoagulation (easy bruising,
conjunctival pallor, pale palmar creases, jaundice if haemolysis) and endocarditis (splinter
haemorrhages, janeway lesions, osiers nodes, clubbing). Bear in mind “before-issues” (i.e.:
issues that developed during the lag time to surgery) like left ventricular hypertrophy (heaving
non-displaced apex) or pulmonary hypertension (loud S2, parasternal heave, pan-systolic
murmur and raised JVP with giant systolic V waves and parasternal thrill from tricuspid
regurgitation, peripheral oedema). If you cannot deduce an underlying cause “I cannot deduce
the underlying indication for valve replacement in this patient, and so I would like to explore this
further by taking a history; specifically addressing whether there is a history of rheumatic fever,
infective endocarditis, or connective tissue disorders. In their absence the most likely cause
would be senile degeneration of the valve or a bicuspid valve”.
Classic cases:
▪ Common associations: Rheumatic heart disease
Differential diagnosis: The underlying indication for aortic valve replacement includes:
▪ Bedside tests: ECG (conduction abnormalities, LVH criteria), urine dipstick (proteinuria and
haematuria if IE), fundoscopy (Roth spots of IE).
▪ Bloods: FBC (anaemia), INR (to ensure therapeutic)CRP/ESR (infective endocarditis),
▪ Imaging: CXR (heart failure), ECHO (valve and ventricular function).
Referral:
Determine if patient can be managed as an inpatient or an outpatient, and whether there are any
features that would warrant expediting routine cardiology outpatient clinic dates.
Management:
▪ Medical: Treat co-morbidities like heart failure
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▪ Surgical: Valve replacement (mechanical, biological, bioprosthetic).
Possible questions:
1. What are the complications of valve replacement? Early and late valve associated infective
endocarditis, prosthesis failure (leaks, displacement), thomboembolism, bleeding related to
anticoagulation, jaundice related to haemolysis across valve.
2. Which patients should consider non-mechanical valves? Those in whom anti-coagulation is

contraindicated, who have a short life expectancy, and in older patients.
3. What are the diagnostic criteria for infective endocarditis? The Modified Duke Criteria comprise
major and minor criteria. You need 2 major criteria OR 5 minor criteria OR 1 major and 3 minor
criteria to diagnose IE. Major criteria are x2 positive blood cultures with typical micro-organisms
or positive ECHO findings such as abscesses, dehiscence, and oscillating masses. Minor criteria
include positive ECHO or blood culture findings not meeting the major criteria, pre-disposing
illnesses such as IVDU or underlying lung condition, immunological phenomena
(glomerulonephritis, Oslers nodes, Roth spots, positive RF), vascular phenomena (splinter
haemorrhages, janeway lesions, septic emboli) and fever.
4. What are the common organisms implicated in IE? Bacterial include staphylococcus aureus,
staphylococcus epidermis, streptococcus viridans, and streptococcus bovis; or more rarely due
to HACEK organisms or fungal organisms like candida.
5. Which valve is most commonly affected by IE? Mitral then aortic.
Congenital Heart Disease
The conditions can be divided into those which are:
Cyanotic:
▪ Tetralogy of Fallot
▪ Transposition of the great vessels
▪ Tricuspid atresia
▪ Total anomolous venous return
▪ Truncus arteriosus
Non-cyanotic (although those with shunts can progress in later life to Eisenmengers Syndrome/ES
with shunt reversal and cyanosis):
▪ Ventricular septal defect
▪ Atrial septal defect (ostium secundum or primum)
▪ Patent ductus arteriosus
▪ Co-arctation of the aorta (do not progress to ES)
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Key things to address in these cases:
1. Is the patient clubbed and/or cyanosed?
2. Are the radial pulses equal bilaterally and is there radio-femoral delay?
3. What murmurs are audible and is there splitting of the second heart sound?
4. Is there evidence of corrective surgery?
5. Is there evidence of infection, pulmonary hypertension, heart failure or Eisenmengers?
6. If female, pregnancy can be a critical period for those with CHD – is she pregnant (request a
urine dip to test)?
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Atrial Septal Defect

Scenarios: Palpitations, young person with a stroke.
Examining an atrial septal defect: It may be a relatively young patient and you may be able to feel the
irregularly irregular pulse of atrial fibrillation. Fixed splitting of the 2nd heart sound which does not vary
with respiration and a systolic murmur across the pulmonary valve due to increased blood flow through
the right side of the heart (not because of flow through the ASD itself). The latter may even cause a thrill
over the area or palpable click as the pulmonary valve opens. They are at risk of heart failure (right –
raised jugular venous pressure, left parasternal heave, ankle and sacral oedema, may even have a
murmur across the tricuspid valve or PR may ensue due to Graham Stell murmur; left – heaving apex,
bibasal crepitations on auscultation of the lungs), paradoxical emboli (hemiparesis, intracerebral
abscess) and infective endocarditis (splinter haemorrhages, clubbing, oslers nodder, janeway lesions).
Tell the examiner as you finish if this is an ASD with a left to right shunt, or a right to left shunt
(Eisenmenger’s syndrome – clubbing, cyanosis).
Classic cases:
▪ Holt Oram Syndrome: Range of upper limb deformities (triphalangeal thumb, hypoplastic thumb,
polydactyly, radial hypoplasia), ASD, heart block.
▪ Down’s Syndrome: Short stature and neck, single transverse palmar crease, inturning of 5th
finger, low set ears, epicanthal folds and upslanting palpebral fissures; AV septal defects, PDA,
or TOF (the latter could give a PSM of the VSD, and an ESM over the pulmonary valve due to PS).
▪ Turner’s Syndrome: Female, short stature, webbed neck, short 4th metacarpals, cubitus valgus,
high arched palate.
▪ Iatrogenic: Can occur secondary to transeptal puncture during balloon mitral valvuloplasty so
look for scars and listen for murmurs that indicate mitral valve disease.
Investigations:
▪ Bedside: Electrocardiogram (RBBB and RAD suggests secundum, RBBB and LAD suggests
primum).
▪ Bloods: FBC (polycythaemia).
▪ Imaging: Echocardiography (Doppler flow to study movement across the defect, right heart
pressures and function, association valvular defects, may need TOE to fully assess).
▪ Special tests: Cardiac catheterisation (step up in oxygen saturations in the right mid atrium).
Management:
▪ Non-pharmacological: Education and advice.
▪ Medical: Treat co-existing problems (e.g atrial fibrillation).
▪ Surgical: Repair of the defect (ideally prior to the development of pulmonary hypertension).
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Questions:
1. What are the different types of septal defects in the atria? Patent foramen ovale (although this
can allow paradoxical emboli to occur there is not equalisation of atrial pressures so no risk of
eisenmengers etc), ostium secundum ASD (commonest, RBBB + RAD), ostium primum ASD
(defect lower down and may involve defects of mitral valve too causing MR, associated with
Down’s syndrome, presents in childhood, RBBB + LAD), sinus venous ASD, and coronary sinus
ASD.
2. What is Lutembacher’s syndrome? Association between atrial septal defect and mitral stenosis.
It can arrise either because of co-existent rheumatic mitral valve disease or because the ASD has
developed a surgical complication of transeptal puncture during balloon valvuloplasty of the
mitral valve.
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Coarctation of the Aorta

Possible scenarios: Hypertension in a young patient, lower limb symptoms on exercise.
Examining Co-arctation of Aorta:
▪ Inspection: Visible pulsations at sites of collaterals and visibly thrusting apex, hypo plastic limb
development (legs or left arm), prominent carotid pulsations (may be confused with Corrigan’s
sign of AR).
▪ Palpation: Weak left radial pulse (indicates origin proximal to left subclavian artery, rarer and
tends to present in infancy), radiofemoral delay (indicates origin distal to the left subclavian
artery, commonest), heaving/thursting apex, systolic thrill.
▪ Auscultation: Bruits over the scapula and left infraclavicular area and at the site of other
collaterals, murmur of the co-arctation (if distal to LSA) will be loudest over the thoracic spine
posteriorly.
▪ Additional features to comment on: Presence of other murmurs (bicuspid aortic valve, aortic
stenosis, aortic regurgitation), corrective surgery (left thoracotomy scar, reduced left radial
pulse), infective endocarditis, heart failure.
Common associations:
▪ Bicuspid aortic valve: 25-50% of COA have a bicuspid AV – listen if you can hear an opening click
and ejection systolic murmur from early aortic stenosis.
▪ Turner’s Syndrome: Short female patient with a webbed neck (can just look broad), cubitus
valgus, bifid uvula and high arched palate.
▪ Other left sided heart lesions.
▪ Berry aneurysms, renal tract abnormalities and haemangiomas.
▪ Hypertension (often difficult to treat due to low flow to kidneys driving the RAS system).
Differential diagnosis of a reduced left radial pulse:
▪ Anatomical: Unusual anatomical course, congenital absence, external compression of proximal

artery by cervical rib, lymphadenopathy, mass lesions.
▪ Iatrogenic: Local trauma like ABG, arterial line, or radial artery harvest; or issues proximal to this
related to surgical correction of cardiac defects (e.g.: tetralogy of fallot blalock procedure,
subclavian patch repair of co-arctation of the aorta).
▪ Atherosclerosis: Smoking, high BMI, hypertension, hypercholesterolaemia, diabetes.
▪ Embolism: Atrial fibrillation.
▪ Vasculitis: Giant cell arteritis, Takayasu’s arteritis.
35 | P a g e
▪ Bedside tests: Blood pressure both arms (reduced if origin proximal to LSA, or LSA used in repair
operation), ECG (LVH criteria, p mitrale), fundoscopy (Roth spots of IE), urine
dipstick (proteinuria and haematuria in IE, dipstick in case of pregnancy), ankle brachial pressure
index (objective assessment of the effects of the co-arctation or patency of the repair).
▪ Bloods: FBC (anaemia, white cell count for infection), CRP/ESR (raised in IE), U&Es (to asses end
organ damage from hypertension and as baseline pre anti-hypertensive therapy).
▪ Imaging: CXR (3 shape from bulge of LSA dilation and then bulge from aortic post-stenotic
dilatation, rib notching, evidence of left heart failure), ECHO (co-arctation, bicuspid AV, AS, AR,
associated defects like VSD, LV function), cardiac MRI (more anatomical information and detail
about the co-arctation, and is the preferred modality for follow-up post repair).
▪ Special tests: Cardiac catheterisation (pressures, collaterals).
Referral:
Should be under regular review by cardiology and young women should receive pre-conception
counselling and be managed by a specialist obstetric team.
Management:
▪ Monitor: BP, for IE, heart failure.
▪ Repair: Left subclavian flap repair, resection with end-to-end anastomosis, patch aortoplasty,
balloon angio and stenting.
Questions:
1. What complications can occur post-repair? Re-coarctation, aneurysms, dissections.
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Ebstein’s Anomaly
Scenarios: Dyspnoea, palpitations.
Examination of Ebstein’s anomaly: Raised jugular venous pressure with giant V waves, right ventricular
heave, widely split 1st heart sound with a loud tricuspid component, pan systolic murmur heard loudest
at the lower left sternal edge which is accentuated by inspiration, there may be 3rd and 4th heart
sounds, pulsatile hepatomegaly. Not uncommon to have associated cardiac defects including atrial
septal defect with fixed splitting of the second heart sound, ejection systolic murmur loudest at the
pulmonary area which does not alter with respiration, which may progress to Eisenmenger’s with
cyanosis and clubbing). Determine if they have signs of heart failure or infective endocarditis.
Investigations:
▪ Bedside tests: Electrocardiogram (p pulmonale, RBBB).
▪ Imaging: Echocardiogram (confirm the diagnosis, look for associated defects).
▪ Special tests: Electrophysiology (to detect and characterise accessory conduction pathways).
Treatment:
▪ Medical: of arrhythmias and heart failure.
▪ Surgical: Tricuspid valve repair or replacement; palliative approaches include Fontan procedure
(divert blood from right atrium straight through to the pulmonary artery, bypassing the right
ventricle).
Questions:
1. What is the underlying abnormality in Ebstein’s anomaly? It’s a congenital abnormality of the
posterior and septal leaflets of the tricuspid valve resulting in tricuspid regurgitation with a large
right atrium and atrialised right ventricle.
2. Do you know of any risk factors for Ebstein’s anomaly? Maternal lithium or benzodiazepine use
during pregnancy.
3. What might you not see prominent V waves in tricuspid regurgitation secondary to Ebstein’s
anomaly? Because the large right atrium is able to accept the regurgitant jet from the leaking
valve so that it is not transmitted up into the jugular venous pulse.
4. What are other causes of tricuspid regurgitation? Most are secondary to pulmonary
hypertension, pulmonary stenosis and mitral stenosis; other primary causes include infective
endocarditis, rheumatic heart disease, and carcinoid syndrome.
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Eisenmenger’s Syndrome
Scenarios: Shortness of breath, palpitations, fatigue, haemoptysis.
Examining Eisenmenger’s Syndrome: Be aware that most defects that progress to Eisenmenger’s,
including large VSDs and patent ductus arteriosus, result in Eisenmenger’s at a young age if not
corrected. In contrast, ES can develop in those large ASDs in their twenties and thirties.
1. Inspection: Clubbing, hypertrophic pulmonary osteoarthropathy, peripheral and central

cyanosis (in PDA may only affect toes – “differential cyanosis”), raised JVP with prominent a
and/or v waves.
2. Palpation: Irregularly irregular pulse, right ventricular (left parasternal) heave with difficult to
feel apex (as it is displaced posteriorly), palpable second heart sound, pulsatile liver.
3. Auscultation: Loud P2, 3rd heart sound, 4th heart sound, ejection systolic murmur loudest at the
pulmonary area, early diastolic murmur loudest at the pulmonary area, pansystolic murmur
loudest at the tricuspid area in inspiration.
Classic cases:
▪ Atrial Septal Defect (ASD): Wide, fixed splitting of the second heart sound.
This depends a lot on the presentation and clinical findings but consider Tetralogy of Fallot, idiopathic
pulmonary hypertension, septal defects without shunt reversal.
Investigations:
▪ Bedside tests: ECG (P-pulmonale, RAD, RBBB, arrythmias, heart block), urine dipstick (pregnancy
tests), fundoscopy (roth spots).
▪ Bloods: FBC (secondary erythrocytosis, thrombocytopaenia), iron studies (iron deficiency should
be treated), U&Es (renal failure common), clotting (can develop aquired VWF
deficiency), CRP/ESR (high risk of IE).
▪ Imaging: CXR (prominent, dilated pulmonary arteries with pruning of peripheral

vessels), transthoracic/transoeseophageal ECHO (anatomy, ventricular function, shunts,
vegetations), cardiac MRI (more detailed anatomical information, ventricular function).
▪ Special tests: Cardiac catheterisation (pressures, responsiveness to vasoactive substances).
Management:
▪ Non-pharmacological: Childhood vaccinations, pneumococcal vaccination and annual influenza

vaccination; phlebotomy for hyperviscosity syndrome, counselling regarding lifestyle issues such
as pregnancy (dangerous to mother and foetus with high mortality rates).
▪ Medical: Maintain iron stores through supplementation if required, treat heart failure,
vasodilators.
38 | P a g e
▪ Surgical: Combined heart-lung transplant.
Referral:
To be managed at a specialist cardiology and/or cardio-thoracics centre.
Questions:
1. What is Eisenmenger’s Syndrome? ES occurs in those who have left-to-right shunts, who develop
pulmonary arterial hypertension due to increased blood flow and in whom the shunt then
balances or reverses to right-to-left. At this time they become cyanosed, breathless and
clubbed.
2. What are the complications of Eisenmenger’s Syndrome? Hyperviscosity (headache, visual

disturbance, impaired cognition, parasthesiae, tinnitus), bleeding (bruising, epistaxis, gum
bleeding, menorrhagia, haemoptysis), thrombosis (PE, paradoxical emboli), ischaemia (stroke,
TIA), infection (IE, cerebral abscesses), arrythmias, renal failure, gout, cholelithiasis.
References:
Oechslin E et al. The Adult Patient with Eisenmenger’s Syndrome: A Medical Update after Dana Point
(parts I, II, III). Curr Cardiol Rev 2010. 6 (4).
Tetralogy of Fallot
Possible scenarios: Breathlessness, syncope, growth retardation, squatting at rest (to increase SVR and
reduce the right to left shunt), corrective surgery as a child.
Features of TOF: TOF is a combination of VSD, overriding aorta, pulmonary stenosis/right ventricular
outflow tract obstruction of some form and RVH.
Features of a Blalock-Taussig shunt: Involves anastamosis of the subclavian and pulmonary artery in
order to shunt deoxygenated blood destined for the body, into the lungs for oxygenation. Collaterals
enlarge and develop to supply the left arm from which blood has been diverted. No longer the operation
of choice as it is palliative not curative, but may have been when the patient was young or was indicated
in their case due to complex anatomy. Left radial pulse weaker than right, left arm may be smaller than
right, left arm BP difficult to obtain, lateral thoracotomy scar.
Features of a total repair: Usually performed on children in first year of life. The VSD is repaired by a
mesh and the right ventricle outflow tract obstruction is relieved resulting in varying degrees of
pulmonary regurgitation and right ventricular overload. Midline sternotomy scar, right ventricular
heave, right ventricular failure (raised JVP, pan systolic murmur of tricuspid regurgitation, peripheral
oedema), early diastolic murmur loudest in inspiration at right sternal edge.
▪ Bedside tests: Electrocardiogram (conduction problems, arrhythmias, left ventricular

hypertrophy), urine dipstick, temperature and fundoscopy (infective endocarditis), pregnancy
testing (cardiac disease can be a danger to mother and child during the physiological changes of
pregnancy).
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▪ Bloods: FBC (anaemia, white cell count for infection), CRP/ESR (raised in infection)
▪ Imaging: Chest radiograph (boot shaped heart, enlarged right ventricle, right sided aortic arch,
reduced pulmonary vasculature/oligaemia), echocardiogram (to asses pressure gradients across
valves, ventricular systolic and diastolic function), cardiac MRI (further assessment of anatomy
and ventricular function).
Referral:
Should be under regular review by cardiology and young women should receive pre-conception
counselling and be managed by a specialist obstetric team.
Possible questions:
1. What complications is this patient at risk of? Syncope, heart failure, infective endocarditis,
embolic events including cerebral abscess, stroke.
2. Apart from the Blalock-Taussig shunt, what other palliative procedures were used in the past for
TOF? All procedures aim to link the pulmonary artery to a systemic artery – in Blalock it is the
subclavian artery and in Waterson anastamosis it was the back of the aorta to the PA.
40 | P a g e
Ventricular Septal Defect (VSD)

Scenarios: Breathlessness, reduced exercise tolerance, cyanosis, fatigue, orthopnoea, paroxysmal
nocturnal dyspnoea.
Examining ventricular septal defect: Apex beat forceful and displaced, there may be systolic thrill,
pansystolic murmur heard across the precordium which is loudest at the left sternal edge, which does
not vary with respiration or radiate into the axilla. Important complications to notice are heart failure
(raised jugular venous pressure, bibasal crepitations, peripheral oedema), Eisenmenger’s complex
(clubbing, cyanosis, left parasternal heave, loud P2, EDM over pulmonary area due to Graham Steel
murmur), and infective endocarditis (splinter haemorrhages, oslers nodes, janeway lesions). To ascertain
the underlying cause note if the patient is young (likely congenital, and in which case look for
accompanying cardiac defects) or old (and if so look for scars of previous CABG and cardiac
interventions).
▪ Ventricular septal defect:
▪ Congenital: Isolated, associated with other heart defects (e.g.: Tetralogy of Fallot, or
with co-arctation of the aorta, pulmonary/tricuspid atresia, aortic regurgitation), or
associated with somatic abnormalities (e.g.: Down’s syndrome, Turner’s syndrome).
▪ Acquired: Septal rupture post-myocardial infarction.
▪ Mitral regurgitation, tricuspid regurgitation.
▪ Hypertrophic obstructive cardiomyopathy.
Investigations:
▪ Bedside tests: Electrocardiogam (LVH criteria, LAD, conduction defects).
▪ Bloods: FBC (polycythaemia of Eisenmengers).
▪ Imaging: Chest radiograph (prominent pulmonary arteries with peripheral pruning of

vessels), echocardiogram (position and size of the defect, left and right ventricular function,
presence of other cardiac abnormalities, shunt direction with doppler).
▪ Special tests: Cardiac catheterisation (step up in oxygen saturation in the right ventricle).
Treatment:
▪ Non-pharmacological: Advice and education.
▪ Medical: Manage heart failure and infective endocarditis.
▪ Surgical: Open or percutaneous transcatheter device.
Questions:
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1. What is maladie de roger? When the patient has a small VSD which creates a loud murmur due
to a high degree of turbulence but an otherwise normal cardiac examination.
2. Does a maladie de roger need treatment? Not usually as they tend to be haemodynamically
insignificant and will often close spontaneously.
3. What types of VSD are there? Membranous (commonest and may close spontaneously),
muscular (the typical site following a myocardial infarction), infundibular, and atrioventricular.
4. When is a patient at risk of developing a VSD? 1-3 days following a myocardial infarction – they
would present with rapid onset haemodynamic collapse.
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Hypertrophic (Obstructive) Cardiomyopathy

Possible scenarios: Breathlessness, syncope after (rather than during) exercise, palpitations, family
history of sudden death.
Examination of a patient with HOCM:
▪ Inspection: Young patient.
▪ Palpation: Jerky pulse, may feel a double impulse at brachial/carotid, thrusting/heaving and
undisplaced apex with double impulse, thrill at lower left sternal edge (automatically the latter
will make the resultant murmur a grade 4-6).
▪ Auscultation: Listen for two murmurs – the primary ejection systolic murmur heard loudest at
the left sternal edge in valsalva and on standing from sitting; it will often radiate across the
entire precordium (but not carotids) and the secondary pansystolic murmur at the apex
radiating to the axilla (due to systolic anterior motion of the mitral valve). There may also be a
4th heart sound.
▪ Extra points: Features of infective endocarditis (Oslers nodes, janeway lesions, splinter
haemorrhages, clubbing, roth spots on fundoscopy), features of heart failure (raised JVP,
peripheral/sacral oedema, bibasal crepitations on lung auscultation), features of treatment (ICD,
pacemaker).
Classic cases:
▪ Common associations: Atrial fibrillation (this will mean you will not feel the double impulse as
there is no defined atrial contraction), mitral valve prolapse (ejection click and late systolic
murmur).
▪ Friedreich’s Ataxia: Pes cavus, kyphoscoliosis, diabetic finger prick marks, nystagmus and
hearing aids.
▪ Myotonic dystrophy: Temporalis muscle wasting, frontal balding, ptosis, cataracts.
HCM can occur secondary to sarcolemmal protein mutations, glycogen/lysosomal storage

disorders, defects of fatty acid metabolism, and mitochondrial defects; as part of a systemic disorder
such as Friedreich’s or myotonic dystrophy; or due to high level exercise and amyloidosis. Multiple
murmurs in a young individual should also trigger consideration of infective endocarditis and congenital
heart disease.
▪ Bedside tests: ECG (left ventricular hypertrophy, LAD, Q waves and ST changes indicative of
ischaemia, ventricular ectopics, WPW).
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▪ Blood tests: FBC and CRP to asses for anaemia and raised inflammatory markers in the context
of infective endocarditis, clotting screen to check INR if on warfarin, U&Es as baseline prior to
consideration of starting or modifying cardiac and anti-hypertensive therapies.
▪ Imaging tests: CXR (cardiac failure – pulmonary oedema, cardiomegaly in late stages, pleural
effusions and kerley B lines), ECHO (concentric or septal hypertrophy, septal wall thickness,
outflow tract gradient, diastolic dysfunction until late stages where there is systolic dysfunction
too, associated defects like MVP), cardiac MRI (more detailed structural information, helps
identify apical hypertrophy).
▪ Special tests: Cardiac catheterisation (gradient), genetic tests (sarcolemmal proteins like beta
myosin heavy chain, myosin binding protein C, troponin T/I etc), endomyocardial biopsy (to rule
out other causes of LVH ie.: amyloid)
Referral:
To cardiology (likely a tertiary centre) and genetic counsellors if confirmed.
Management:
▪ Non-pharmacological: Genetic counselling, lifestyle advice including avoiding strenuous

exercise, referral to support and information networks.
▪ Medical: Beta-blockers (reduce outflow tract gradient), amiodarone (suppress arrythmias).
▪ Surgical: Alcohol septal ablation, septal myomectomy.
Possible questions:
1. What are poor prognostic markers in patients with HCM? Syncope, family history of sudden
cardiac death, poor blood pressure response to exercise, outflow tract gradient >30mmHg at
rest, septal wall thickness, certain genetic mutations.
2. What is the inheritance pattern of HCM? Autosomal dominant or de novo mutations.
3. What is the best method of screening family members? The large number of possible affected
genes, different mutations, and variable expression and penetrance often make genetic analysis
impracticable. The usual method of review is with regular electrocardiogram and
echocardiogram.
4. How would you distinguish between the murmur of HCM and the murmur of aortic
stenosis? Aortic stenosis would be louder with increased blood flow across the valve and thus
more turbulence, in contrast, the obstruction from the outflow tract will be lessened if there is
more blood in the heart as it will push the obstructing wall out of the way. As such, you can
make the murmur of aortic stenosis quieter, and the murmur of HCM louder by standing from
squatting. The murmur of AS also radiates to the carotids whereas it does not in HCM.
5. Why do you feel a double apical impulse in HCM? Because you are feeling both the ventricular
and apical contraction.
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Mitral Regurgitation
Possible scenarios: Breathlessness, syncope, palpitations, orthopnoea, PND, fatigue, lethargy.
Examination of mitral regurgitation: Inspect generally for features of connective tissue disorders (tall,
slim, arachnodactyly, fish mouth scars, plucked chicken skin), feel for an irregularly irregular pulse, a
thrusting and displaced apex beat, and a palpable thrill. Listen for a quiet S1 and a pan systolic murmur
radiating to the apex which is loudest in expiration. Check if there are features of left heart failure (3rd
heart sound, bi-basal crepitations), right heart failure (raised jugular venous pressure, left para-sternal
heave, palpable P2, loud P2, peripheral oedema), anti-coagulation from warfarin (purpura, conjunctival
pallor), or infective endocarditis (splinter haemorrhages, janeway lesions, oslers nodes, clubbing, scars
from long lines). Note that a 3rd heart sound can be heard in isolation in MR and is not necessarily
indicative of heart failure in this situation.
Classic cases:
▪ Mitral regurgitation with surgical intervention: Midline sternotomy or lateral thoracotomy

which can suggest a number of issues – regurgitation of a failing prosthetic valve, regurgitation
secondary to surgical valvotomy, or mixed valve disease.
▪ Stroke: Obvious facial droop or hemiplegia secondary to atrial fibrillation related embolisation.
▪ Connective tissue disorders: Marfans (high arched palate, arachnodactyly, hypermobile joints
demonstrated with the thumb in fingers sign, pectus excavatum, kyphoscoliosis), ehlers danlos
(wearing glasses, hyperextensible skin, fish mouth scars, hypermobile joints, flat feet,
kyphoscoliosis), pseudoxanthoma elasticum (plucked chicken skin at the neck and antecubital
fossae, angioid streaks on fundoscopy).
Differential diagnosis: A similar murmur could be due to a ventricular sepal defect, tricuspid
regurgitation and mitral valve prolapse. Otherwise the differential of the underlying cause for the mitral
regurgitation includes:
1. Degenerative: Age related or secondary to underlying MVP.
2. Infective: Rheumatic fever, infective endocarditis.
3. Anatomical: Left ventricular dilatation, papillary muscle rupture following myocardial infarction.
4. Connective tissue disorders.
▪ Bedside tests: ECG (atrial fibrillation, P mitre, criteria for LVH), urine dipstick (haematuria and
proteinuria of infective endocarditis), fundoscopy (Roth spots in infective
endocarditis), temperature (raised in infective endocarditis).
▪ Bloods: FBC (anaemia which will exacerbate symptoms and raised WCC indicative of infective
endocarditis), CRP/ESR (raised suggestive of infective endocarditis), U&Es (to asses renal
function in the context of cardiac and anti-hypertensive medications).
45 | P a g e
▪ Imaging: Chest radiograph (left sided heart failure with pulmonary oedema, cardiomegaly,
effusions, kerley B lines), ECHO (left atrial dilatation, left ventricular enlargement and ejection
fraction, mitral valve abnormalities, presence of vegetations).
▪ Special tests: Cardiac angiography (to asses for coronary artery disease pre-operatively).
Management:
▪ Medical: Treatment for heart failure (frusemide, beta-blockers, ACE-inhibitors, spironolactone),

treatment for atrial fibrillation (using rate or rhythm control, and considering anti-coagulation).
▪ Surgical: Valvotomy, valve replacement (biological or mechanical).
Possible questions:
1. What are the clinical features of severe mitral regurgitation? Heaving apex, palpable thrill, soft
S1, 3rd heart sound, heart failure.
2. What is the Graham Steell murmur? Pulmonary regurgitation murmur secondary to pulmonary
hypertension – can occur in patients with mitral regurgitation due to the resultant pulmonary
congestion.
3. What are the features of mixed mitral valve disease? Preserved S1, presence of an early diastolic
murmur or a mid-systolic click with subsequent late systolic murmur that varies with squatting
(quieter) and standing (louder).
4. What are the indications for mitral valve replacement? Acute severe mitral regurgitation (i.e.:
after an MI with features of acute volume overload), symptomatic MR, asymptomatic MR with
ejection fraction <60%.
5. What are the other reasons for a significantly displaced apex beat? Mitral regurgitation, aortic
regurgitation, ventricular septal defect, dilated cardiomyopathy (alcohol, postpartum,
doxorubicin, thyrotoxicosis, sarcoidosis, haemochromatosis, inherited).
6. How would you manage acute mitral regurgitation? As a surgical emergency – I would asses the
patient urgently utilising an ABCDE approach given the likelihood of cardiogenic shock, by
securing the airway, obtaining wide bore IV access and bloods, and arranging confirmatory
imaging such as echocardiography. Intra-aortic balloon pumping may be required to stabilise
them. I would examine and investigate for common underlying causes such as prosthetic valve
failure, myocardial infarction and infective endocarditis. I would liaise urgently with the nearest
cardiothoracics centre and my local intensive care team.
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Mitral Stenosis
Scenarios: Shortness of breath, reduced exercise tolerance, palpitations, haemoptysis.
Examining mitral stenosis:
▪ Inspection: Malar flush, left sided thoracotomy scar if previous valvuloplasty.
▪ Palpation: Irregularly irregular pulse, tapping apex (feeling the loud 1st heart sound).
▪ Ausculatation: Loud 1st heart sound, opening click, mid-diastolic mumur heard best in expiration
with the patient in left lateral position using the bell, pre-systolic accentuation.
▪ Extra points: Features of heart failure (elevated jugular venous pressure, bibasal crepitations on
auscultation of the lungs, pedal and sacral oedema; and if present is there a right ventricular
heave, loud P2, or associated EDM of PR or PSM of TR audible), features of infective
endocarditis (clubbing, oslers nodes, janeway lesions), features of anti-coagulation (purpura,
pale palmar creases, conjunctival pallor).
▪ Infective: Rheumatic fever, infective endocarditis.
▪ Degenerative valve disease with age or congenital abnormalities of the valve.
▪ Connective tissue diseases: SLE, RA.
▪ Endocrine diseases: Carcinoid syndrome.
A similar murmur may be caused by atrial myxoma, atrial thrombus, cor triatriatum, Austin Flint murmur
(EDM caused by aortic regurgitation).
Investigations:
▪ Bedside tests: BP (hypertension), temperature (IE), ECG (AF, p mitrale), urine dipstick (protein or
blood in IE), fundoscopy (Roth spots in IE).
▪ Bloods: FBC (anaemia, raised WCC in IE), CRP/ESR (raised in IE), INR (if in AF).
▪ Imaging: Chest radiograph (pulmonary congestion, large left atrium causing displacement of the
carina), ECHO (valve function, valve area with less than 1cm2 being severe MS and less than
1.5cm2 being moderate MS, left atrial dilatation, any right heart changes; also excludes
differentials including atrial myxoma).
▪ Special tests: Cardiac catheterisation (to investigate for coronary artery disease which may
contribute to symptoms, and may require intervention so alter management of the valve
lesion).
Management:
▪ Medical: Manage co-existing AF via rate/rhythm control and anti-coagulation, diuretics for heart
failure.
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▪ Surgical: Percutaneous balloon valvuloplasty, valvuloplasty (open or closed), mitral valve

replacement (tissue or mechanical).
Questions:
1. How can you accentuate the murmur of mitral stenosis? Exercise.
2. What can precipitate symptomatic mitral stenosis? The development of AF, pregnancy and
exercise.
3. What clinical features suggest severe mitral stenosis? Longer murmur, pre systolic accentuation
(only heard in sinus), short interval between S2 and the opening snap, evidence of pulmonary
hypertension and right heart failure.
4. What are the indications for mitral valve surgery in mitral stenosis? Pulmonary hypertension,
haemoptysis, recurrent embolic events; patients with NYHA II symptoms and above and ECHO
features of mod-severe mitral stenosis.
5. Which patients are eligible for valvuloplasty? Mobile valve; absence of calcification,
regurgitation or atrial thrombus.
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Mitral Valve Prolapse

Scenarios: Palpitations, atypical chest pain, headaches, fatigue, dyspnoea.
Examining mitral valve prolapse: Normal 1st and 2nd heart sounds without split, mid-systolic click(s)
with late systolic crescendo-decrescendo murmur heard best at the mitral area or lower left sternal
edge, without radiation. Comment on the presence or absence of known complications such as mitral
regurgitation (soft S1, pan-systolic murmur loudest at apex and radiating to the axilla, S3), infective
endocarditis (fever, pale palmar creases, splinter haemorrhages, oslers nodes, janeway lesions,
conjunctival pallor), embolic phenomena (hemiparesis), or arrythmias (irregularly irregular pulse
secondary to atrial fibrillation or recurrent ventricular ectopics).
Classic cases:
▪ Connective tissue disorder: Such as Marfan’s, Ehlers Danlos, pseudoxanthoma

elasticum and osteogenesis imperfecta. So look for a tall patient with high arched palate,
hypermobility, hyperextensible skin, plucked chicken skin appearance and blue sclerae.
▪ Turner’s Syndrome: Female, short stature, webbed neck, widely spaced nipples, cubitus valgus.
▪ Autosomal dominant polycystic kidney disease: Peritoneal dialysis lines, AV fistulae.
Investigations:
▪ Bedside tests: Electrocardiogram (atrial fibrillation, p-mitrale); urine dipstick, fundoscopy and
temperature (infective endocarditis).
▪ Bloods: FBC, CRP/ESR (anaemia and raised inflammatory markers if infective endocarditis
present).
▪ Imaging: Echocardiogram (confirm MVP with a floppy mitral valve leaflet, establish if any mitral
regurgitation).
Treatment:
▪ Non-pharmacological: Education and re-assurance.
▪ Medical: Beta blockers may be useful for arrythmias and atypical chest pain.
▪ Surgical: Does not routinely require repair.
Questions:
1. What will make the click and murmur of mitral valve prolapse….
▪ Louder? Reduced cardiac volume so standing and valsalva.
▪ Quieter? Increased cardiac volume so squatting and propanolol.
2. What is the cause of mitral valve prolapse? Myxomatous degeneration of the valve, with some
families displaying an autosomal dominant type inheritance pattern.
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Mitral Valve Replacement

Possible scenarios: Patient with breathlessness, fever, syncope.
Examination of a mitral valve replacement:
▪ Inspection: Midline sternotomy or lateral thoracotomy scar from the surgery, or a lateral
thoracotomy for previous mitral valvotomy (or post-operative complications), there may be
smaller scars around the lower chest and upper abdomen that represent the sites of post-
operative drains; less commonly they have undergone minimally invasive surgery with a scar
underneath the right breast in women, and a small scar beneath the right nipple in males.
▪ Auscultation: If metallic – prosthetic click may be audible at S1, either at end of the bed, close to
the patient or on auscultation; occasionally accompanied by opening click in early diastole and a
diastolic murmur (suggests Starr Edwards – ball and cage valve).
▪ Extra points: Evidence of valve failure includes pan systolic murmur of mitral regurgitation and
displaced + thrusting apex, quiet click at S1 or accompanying features of heart failure. Also
comment on “after-issues” with anticoagulation (easy bruising, conjunctival pallor, pale palmar
creases, jaundice if haemolysis) and endocarditis (splinter haemorrhages, janeway lesions, oslers
nodes). Bear in mind “before-issues” (i.e.: issues that developed during the lag time to surgery)
like pulmonary hypertension (loud S2, parasternal heave, pan-systolic murmur and raised JVP
with giant systolic V waves and parasternal thrill from tricuspid regurgitation, peripheral
oedema).
Classic cases:
▪ Common associations: Atrial fibrillation.
A similar murmur is also heard in a tricuspid valve replacement. The underlying indication may have
been infective endocarditis, or mitral stenosis or regurgitation of whatever cause.
▪ Bedside tests: Electrocardiogram (left ventricular hypertrophy, p mitrale, AF).
▪ Blood tests: FBC and CRP/ESR (anaemia and raised inflammatory markers in the context of
infective endocarditis), clotting screen (INR), U&Es (baseline prior to consideration of starting or
modifying cardiac and anti-hypertensive therapies).
▪ Imaging tests: Chest radiograph (evidence of cardiac failure such as pulmonary oedema,
cardiomegaly, pleural effusions and kerley B lines), echocardiogram (signs of valve failure
looking for left ventricular failure, ejection fraction and left ventricular end systolic diameter).
Referral:
Determine if patient can be managed as an inpatient or an outpatient, and whether there are any
features that would warrant expediting routine cardiology outpatient clinic dates.
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Treatment:
▪ Medical: Anticoagulation for metallic valves, treat co-morbidities like atrial fibrillation.
▪ Surgical: Open surgery, minimally invasive surgery; these procedures may be combined with
CABG for coronary artery disease or ablation procedures for arrhythmias such as atrial
fibrillation.
Questions:
1. What are the complications of valve replacement? Dislodgement, dehiscence, thrombosis and
embolisation, infection, haemolysis, haemorrhage related to anti-coagulation.
2. What is the target INR range for a mitral valve replacement? Usually 2.5-3.5.
3. What surgeries are performed via lateral thoracotomy? Cardiac operations include mitral valve
replacement, mitral valvotomy, repair of co-arctation, patent ductus arteriosus ligation, and
Blalock Taussing shunt, respiratory operations include lobectomy and pneumonectomy,
oesophageal surgery, or congenital diaphragmatic surgery repair.
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Neurology
This could be:
1. Cranial nerves
2. Upper limbs
3. Lower limbs
**REMEMBER: Some of the cases you will see, in the absence of any history, could represent medical or
neurosurgical emergencies if a patient with the same signs presented acutely on the medical take – say
this. For example – hemiplegia, monoparesis, UMN facial weakness, peripheral motor neuropathy,
spastic para- or tetra paresis etc.
Whilst examining you should be noting where the likely site of the lesion is, below are the common
patterns to be aware of by their presentation or their causes:
1. Upper motor neurone lesion: Arms will be held in flexion and adduction, legs in extension. There
may be contractures. Tone is increased and there is clonus. Power is reduced, in the arms the
extensors are weakest and in the legs the flexors are weakest. Reflexes are brisk. Plantars up-
going. Can be due to a lesion in the brain, corticospinal/pyramidal tract, or anterior horn cells.
2. Lower motor neurone lesion: Fasiculations at rest and wasting. Tone flaccid. Power reduced,
distally more than proximally. Reflexes absent or reduced. Plantars down-going or mute.
3. Cerebellar damage: Ataxia, dysdiadochokinesis, pendular reflexes, nystagmus, inability to walk

heel-to-toe, past pointing, intention tremor, slurred speech.
4. Spinothalamic tract damage: Carries pain and temperature.
5. Dorsal column damage: Carries vibration, joint position and pressure, predominant carrier of
soft touch.
6. Small fibre neuropathy: Pain and temperature, and autonomic sensation is impaired.
7. Large fibre neuropathy: Vibration and proprioception sensation is impaired.
8. Unilateral cord lesion: Ipsilateral loss of joint position, proprioception and vibration sense with a
spastic paraparesis, contralateral loss of pain and temperature.
9. Subthalamic nucleus lesion: Contralateral hemibalismus.
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Cranial Nerves
1. Cranial nerve 1 (olfactory): Have you noticed any change in your sense of smell or taste?
2. Cranial nerve 2 (optic):
▪ Can you see all of my face?
▪ Acuity: One eye at a time, with glasses on, near and far.
▪ Pupillary reactions to accommodation and then to light (direct and indirect, including
the swinging light tests) using the ophthalmoscope.
▪ Fundoscopy: Red reflex, disc, arcades, macula, peripheries.
▪ Fields: Using a white hat pin or wriggling finger.
▪ Blind spot: Using red hat pin, one eye at a time, move laterally first then once found,
move up and down to work out the size vertically.
3. Cranial nerve 3 (oculomotor), 4 (trochlear), and 6 (abducens):
▪ Pursuit: Follow my finger with your eyes, let me know if you get any double vision. Draw
an H shape and then go up in the middle.
▪ Saccades: Look at my nose and then look at my fingers when I click them.
4. Cranial nerve 5 (trigeminal):
▪ Sensory: Touch both sides, 3 times, compare each side. Offer to do the corneal nerve
reflex.
▪ I just want to check your blink reflex. Scrunch up a bit of cotton wool into a long
thin bit and gently touch the eye as the patient looks up and away (afferent –
CNVi; to the pons; efferent – CNVII).
▪ Motor: Clench your jaw…stop me from closing your mouth. Offer to do the jaw jerk.
5. Cranial nerve 7 (facial): Copy me – lift your eyebrows, puff out your cheeks, show me your teeth.
6. Cranial nerve 8 (vestibulocochlear): I’m going to rustle my finger near you ear, and block the
other one off, tell me if you can hear the rustling noise. Then perform Rinne’s Test and Weber’s
Test (using a 512Hz tuning fork).
7. Cranial nerve 9 (glossopharyngeal): Offer to test the gag reflex.
8. Cranial nerve 10 (vagus): Open your mouth and say “ahh”.
9. Cranial nerve 11 (accessory): Shrug your shoulders, look over you shoulder and push your face
against my hand.
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10. Cranial nerve 12 (hypoglossal): Open your mouth for me. Look at the tongue at rest for wasting
and fasiculations. Now stick your tongue out for me. Look for deviation.
Exits cranial nerves: These are the sites where the cranial nerves leave the skull and as such if you have
a cluster of nerves affected consider if the obstruction is at one of these sites.
▪ Cribriform plate: Olfactory nerve (1).
▪ Optic foramen: Optic nerve (2).
▪ Superior orbital fissure: Oculomotor (3), trochlear (4), abducens (6), and ophthalmic branch of
the trigeminal nerve (5V1).
▪ Round foramen: Maxillary branch of the trigeminal nerve (5V2).
▪ Oval foramen: Mandibular branch of the trigeminal nerve (5V3).
▪ Internal auditory canal: Facial (7) and vestibulocochlear nerve (8).
▪ Jugular foramen: Glossopharyngeal (9), vagus (10) and accessory nerve (11).
▪ Hypoglossal canal: Hypoglossal nerve (12).
Other key anatomical areas: Other sites to consider if clusters of nerves affected.
▪ Cavernous sinus: Oculomotor (3), trochlear (5), ophthalmic and maxillary branches of the
trigeminal (5V1+2), and abducens nerve (6). If the maxillary branch if the trigeminal isn’t
involved think superior orbital fissure syndrome, if the optic nerve (2) is involved but also not
the maxillary branch of V think orbital apex syndrome.
▪ Cerebellopontine angle: Trigeminal (V), facial (7), vestibulocochlear (8), cerebellar signs.
▪ Petrous temporal bone: Trigeminal (5) and abducens nerve (6) – Gradenigo’s syndrome.
▪ Brainstem lesions: Remember the rule of 12 which means that those nerve numbers that can be
multiplied to create 12 are located medially (3, 4, 6, 12) whereas those that cannot are based
laterally (5, 7, 8, 9, 10, 11).
▪ Midbrain: Oculomotor (3), trochlear (4).
▪ Pons: Trigeminal (5), abducens (6), facial (7), vestibulocochlear (8).
▪ Medulla: Glossopharyngeal (9), vagus (10), accessory (11), hypoglossal (12).
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Horner’s Syndrome
Scenarios: Face or neck pain, unequal pupils noted, different colours of the iris noted.
Features of Horner’s syndrome:
▪ Partial ptosis: Affects both the upper and lower lid.
▪ **If you ever mention ptosis – say if it is bilateral or unilateral, complete or partial, and
whether or not it is fatiguable.
▪ Apparent enophthalmos: Due to the above.
▪ Miosis: Causing anisocoria. Ask for the lights to be turned off to make this effect more marked
as the contralateral pupil dilates – the affected pupil may dilate but often slowly, a so called
‘dilation lag’.
▪ Anhidrosis and flushing:
▪ First order: Ipsilateral body.
▪ Second order: Ipsilateral face
▪ Third order: Absent or just above the brow.
If you’ve seen Horner’s syndrome: Mainly examine through inspection.
▪ General: Look for hemiparesis or mobility aids.
▪ Face: Focus in on the iris and look for heterochromia (congenital or very long standing causes,
affected iris is lighter). Check eye movements looking for associated ophthalmoplegia, then
track towards the neck looking for signs of scars of trauma.
▪ Neck: Look for any scars and palpate for lymphadenopathy, aneurysms and thyroid nodules;
check for tracheal deviation; auscultate for carotid bruits.
▪ Upper thorax: Any scars superiorly, or posteriorly on the back that could suggest previous
lobectomy; auscultate at the lung apex comparing with the normal side and check vocal
resonance.
▪ Ipsilateral arm: Wasting, fasiculations, claw hand.
▪ Neurological examination upper limbs: Motor, cerebellar and sensory.
▪ Congenital: Birth injury to sympathetic chain (Klumpke’s paralysis), hereditary.
▪ First order (from hypothalamus, to midbrain, to spinal cord): Trauma, stroke (e.g.: Wallenberg
syndrome), tumour (primary or secondary, benign or malignant), demyelination (multiple
sclerosis), syringomyelia. Due to the location these are unlikely to present as isolated Horner’s –
they would be associated with other neurological signs.
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▪ Second order (from spinal cord, exiting at C8/T1/T2, across top of lung, up into the neck):
Trauma, pancoast tumour, schwannoma.
▪ Third order (from neck up into the face): Trauma, carotid artery dissection, cavernous sinus
thrombosis or inflammation, cluster headaches, migraines.
Investigations:
▪ Bedside tests: Review old photos (clarify time of onset).
▪ Bloods: Depends on underlying cause – e.g.: FBC, LFTs, bone profile for malignancy if second
order.
▪ Imaging: MRI brain (1st order – ischaemia, demyelination, tumour), chest radiograph and/or CT
thorax (2nd order – Pancoast’s), MRA and/or carotid doppler (2nd and 3rd order), MRI
cavernous sinus and orbits (3rd order).
▪ Special tests: Apraclonidine test (confirms Horners’s syndrome – reversal of anisocoria causing
the affected pupil to dilate and sometimes the ptosis to resolve), cocaine test (confirms Horner’s
syndrome – exacerbates the anisocoria by causing the normal pupil to dilate but not the
affected one), hydroxyamphetamine test (confirms site of lesion – normal dilation of the
affected eye if 1st/2nd order, absent or poor dilation of the affected eye if 3rd order).
Treatment:
▪ Medical: Treat underlying cause.
▪ Surgical: Treat underlying cause or for correction of ptosis.
Questions:
1. What is the mode of inheritance of hereditary Horner’s syndrome? Autosomal dominant.
2. What is Klumpke’s paralysis? Usually caused by a birth injury that damages C8 and T1 causing
weakness and anaesthesia in these areas with clawing of the hand.
3. What is Wallenberg syndrome? Posterior inferior cerebellar artery infarct encompassing

dysphagia, sensory loss ipsilateral face and contralateral trunk and extremities, ipsilateral
cerebellar ataxia, and rotatory nystagmus. It is also known as the lateral medullary syndrome.
Ipsilateral facial sensation is affected here because of damage to the trigeminal spinal nucleus
which receives sensory information.
4. If the patient describes neck or face pain with the onset of their Horner’s, what diagnosis would
you suspect? They should be considered to have a carotid artery dissection until proven
otherwise, and investigated with urgent CT or MR angiography.
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Seventh Cranial Nerve Palsy

Scenarios: Double vision, inability to close eye.
Examining for a 7th cranial nerve (facial) palsy: The exact effects depend on the site of the lesion. There
will be facial weakness which includes the forehead (frontalis) with flattening of the nasolabial fold and
difficulty closing the eye (orbicularis oculi) – the eye may deviate upwards on attempted eye closure
(Bell’s phenomenon). Key negatives in this condition are the presence or absence of cerebellar signs,
ophthalmoplegia, sensory signs, hyperacusis (using tuning fork), and parotid enlargement or tenderness.
An upper motor neurone lesion spares the forehead due to bilateral innervation. If allowed to question
the patient, ask:
1. Have you noticed any change in your sense of taste?
2. Are you finding loud noises uncomfortable?
In the setting of station 5 the key examination in this case is:
▪ Facial nerve: Lift up your eyebrows, close your eyes tight and don’t let me open them, puff out
your cheeks, show me your teeth with a smile.
▪ Trigeminal nerve: This is a piece of cotton wool, does it feel the same on both sides of your face,
now clench your jaw. Offer to perform the jaw jerk and corneal reflex.
▪ Abducens nerve and nystagmus: Follow my finger with your eyes from side to side – look for
failure to abduct and nystagmus and the direction in which it is most pronounced and the
direction of its fast phase (towards a cerebellar lesion, away from a vestibular lesion).
▪ Vestibulocochlear nerve: Which sounds loudest – when I hold it here (air) or here (on the bone),
and does it sound louder either side now (hold in middle of forehead).
▪ Cerebellar: Repeat after me – British constitution, west register street; take your finger and
touch my finger then your nose.
▪ Shine a pen torch in the mouth looking for ulceration and vesicles.
▪ Palpation: Get up and feel their lymph nodes and parotid glands posteriorly whilst also
inspecting for any scars behind the ears or within the hair line.
▪ Offer to perform fundoscopy, fluorescein staining of the eyes for corneal ulcers, and otoscopy
looking for vesicles within the external auditory canal and tympanic membrane.
▪ Anatomical: Tumour, bony compression, trauma or vascular malformation compressing the

nerve at any point along its course from pons, cerebellopontine angle, internal auditory meatus,
and parotid gland.
▪ Infective: Herpes simplex, herpes zoster, Lyme’s disease.
▪ Infiltrative: Sarcoidosis, amyloidosis.
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▪ Inflammatory: Guillain Barre, Miller Fischer syndrome, Sjogren’s syndrome.
▪ Ischaemic: Diabetes, hypertension.
▪ Neoplastic: Lymphoma.
Investigations:
▪ Bedside tests: Otoscopy (vesicles on the tympanic membrane, cholesteatoma, otitis

media), finger prick glucose (diabetes), urine dipstick (glycosuria, proteinuria), blood
pressure (hypertension), ECG (arrythmias like AF which could cause embolic phenomena).
▪ Bloods: fasting glucose (diabetes), HbA1c (diabetes), lipids (cardiovascular

disease), FBC (anaemia or raised WCC), ESR/CRP (raised in inflammation).
▪ Imaging: MRI head or auditory meatus (underlying mass lesion, inflammatory changes in the
nerve).
▪ Special tests: Autoimmune screen (including RF, ANA, anti-dsDNA, ANCA, complement,
cryoglobulins, ACE), serology (HIV, Lyme’s, hepatitis) and blood film/LDH (lymphoma); lumbar
puncture (infection, meningeal infiltration from malignancy).
Management:
▪ Non-pharmacological: Eye patching, re-assure as most spontaneously improve over the

subsequent weeks and months.
▪ Medical: Eye drops and ointments, analgesia, prednisolone (ideally within 72 hours of onset).
▪ Surgical: Facial nerve decompression, cosmetic surgery.
Questions:
1. What score is used to describe the severity of the paralysis? House Brackmann scale from 1 =
normal to 6 = total paralysis.
2. What is Ramsay Hunt Syndrome? A lower motor neurone facial weakness secondary to herpes
zoster infection. Usually with ear pain, vesicles on the tympanic membrane and/or mouth.
3. What would prompt you to consider doing an MRI in a patient with a facial nerve
palsy? Presence of additional signs (e.g.: suggestive of cerebellopontine angle involvement),
bilateral facial nerve palsy, and recurrent facial nerve palsy.
4. What autoantibodies may be positive in patients with facial nerve palsy? Anti-ganglioside
antibodies are sometimes seen.
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Sixth Cranial Nerve Palsy

Scenarios: Double vision, squint.
Examining for a 6th cranial nerve (abducens) palsy: Esotropia of the affected eye at rest, failure to
abduct the eye, and double vision on attempted abduction which resolves on covering the affected eye.
Key negatives are features of diabetic retinopathy and optic nerve swelling on fundoscopic examination,
and the presence or absence of diabetic finger prick marks. If they are wearing glasses look closely for
the presence of a Fresnel prism.
▪ Brainstem lesion: Stroke, aneurysm, tumour, or inflammation.
▪ Mononeuropathy: Diabetes, vasculitis (ANCA associated, rheumatoid, SLE, cryoglobulinaemia),

sarcoid, infection (Lyme’s disease, HIV, leprosy).
▪ Raised intracranial pressure: Tumours, idiopathic intracranial hypertension, haemorrhages,

cerebral oedema.
▪ Cavernous sinus lesion: Infection (tracking from the teeth, central face, sinuses; e.g.: staph
aureus), thrombosis, Tolosa Hunt Syndrome.
▪ CN VI often the first to be affected as it lies free in the sinus, but with time, CN III and IV
(which lie along the lateral wall) will also be affected. Look for proptosis, ptosis and a
source of infection.
Investigations:
▪ Bedside tests: Finger prick glucose (diabetes), urine dipstick (glycosuria, proteinuria), blood
pressure (hypertension), ECG (arrythmias like AF which could cause embolic phenomena).
▪ Bloods: fasting glucose (diabetes), HbA1c (diabetes), lipids (cardiovascular

disease), FBC (anaemia or raised WCC), ESR/CRP (raised in inflammation).
▪ Imagining: CT or MRI head (underlying brainstem lesion, inflammatory changes in the nerve or
cause of raised intracranial pressure).
▪ Special tests: Autoimmune screen (including RF, ANA, anti-dsDNA, ANCA, complement,
cryoglobulins) and serology (HIV, Lyme’s, hepatitis).
Management:
▪ Non-pharmacological: Patching, fresnel prism glasses (like normal glasses, but looking closely at
the lens you may see ridges running down the lens), ophthalmology review, occupational
therapy, DVLA considerations.
▪ Medical: Optimise CVD risk factor control including treatment of diabetes, hypertension and
hypercholesterolaemia (with concurrent appropriate lifestyle measures).
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▪ Surgical: If underlying cause amenable to surgery.
Questions:
1. What is the commonest cause of an isolated 6th nerve palsy? Diabetes mellitus.
2. What is the commonest cause of diplopia in adults? 6th cranial nerve palsy.
3. What is an internuclear ophthalmoplegia? A disorder of conjugate lateral gaze caused by

damage to the medial longitudinal fasiculus which connects the oculomotor and abducens nerve
nuclei. If the right MLF is damaged the eyes will appear normal on looking to the right, but on
looking to the left, the right eye will fail to adduct and the left eye will develop nystagmus as it
abducts. It is commonly due to demyelination from multiple sclerosis, or less commonly
secondary to a ischaemic event in the mid-brain.
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Third Cranial Nerve Palsy

Scenarios: Double vision, droopy eye, eye pain.
Examining for a 3rd cranial nerve (oculomotor) palsy: Complete ptosis (parasymp), eye down and out
(3rd nerve), fixed dilated pupil that does not accommodate (parasymp). Note if the 2nd nerve (blind,
won’t get double vision) or 4th nerve (eye will be out more than “down and out”, and will not intort
when you ask the patient to look in and down) are affected (if both affected, think orbital apex, superior
orbital fissure or cavernous sinus syndrome). Look for surgical scars, especially if the pupil was involved,
as this may suggest surgical repair or excision of an aneurysm or tumour.
Differential diagnosis: The Cases for PACES book (Second edition, Hoole S, Wiley Blackwell 2010) talks
about the four Ms of a medical 3rd nerve and the three Cs of a surgical 3rd nerve palsy.
▪ Surgical 3rd nerve: Painful with a dilated pupil and ptosis. Posterior communicating artery
aneurysm, tumour, raised intracranial pressure with cerebral uncal herniation, cavernous sinus
pathology.
▪ Medical 3rd nerve: Painless with an unaffected pupil. Mononeuritis multiplex (diabetes mellitus,
hypertension, vasculitis, infection like Lymes), midbrain demyelination (MS), midbrain infarct
(Webers), migraine.
Investigations:
▪ Bedside tests: Finger prick glucose marks (for diabetes), urine dipstick (glycosuria,
proteinuria), blood pressure (hypertension).
▪ Bloods: Fasting glucose (for diabetes), HbA1c (for diabetes), lipids (for cardiovascular disease
assessment), FBC (anaemia, infection or inflammation), CRP/ESR (infection or
inflammation), serology (HIV, syphilis, Lyme’s).
▪ Imaging: CT head (evidence of bleeding or mass lesion), CT or MR angio (looking for aneurysms).
▪ Special tests: Catheter angiography (MRA can detect aneurysms of 2-3mm so is usually
sufficient, but this is the gold standard).
Management:
▪ Non-pharmacolgical: Re-assurance as most medical 3rd nerve palsies improve over a period of 3
months.
▪ Medical: Treat underlying cause, analgesia.
▪ Surgical: Clip or coil an aneurysm.
Questions:
1. What is Weber’s Syndrome? Third nerve palsy with contralateral hemiparesis. Suggests a lesion
of the cerebral peduncle.
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2. What is Benedikt’s Syndrome? Third nerve palsy with contralateral tremors. Suggests a lesion of
the red nucleus.
3. What is Nothnagel’s Syndrome? Third nerve palsy with ipsilateral ataxia. Suggests a lesion of the
superior cerebellar peduncle.
4. What ocular muscles does the 3rd nerve supply? Inferior oblique and the medial, superior and
inferior rectus.
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Lower Limbs
1. Inspection around the bed: Walking aids, canes (white = visually impaired, red + white stripes =
visually and hearing impaired), splints, orthoses.
2. Inspection of the patient: Start from the top of their head and work your way down – body
habitus, frontal balding, scars around the scalp, wasting of temporalis, ptosis, hearing aids,
glasses, ICD/pacemaker, sternotomy scar, joint deformities of the hands.
3. Standing up: Whilst they are first standing inspect from the back at the spine for scoliosis and
kyphoscolisosis, scars (surface anatomy: spine of scapula T3, lower tip of scapula T7, posterior
superior iliac crest L4).
4. Gait: First walking normally, and then if normal, walking heel-to-toe, on tip toes and on heels.
5. Close inspection of legs: Wasting, fasiculations, ulceration, scars (including over the achilles),
rashes.
6. Tone: Roll the legs back and forward, lift up at the knee, check for clonus.
7. Power: Hip flexion and extension, knee flexion and extension, ankle dorsiflexion and plantar
flexion, big toe dorsiflexion and plantar flexion. Grade from 0 no movement, 1 flicker of
movement, 2 movement but not against gravity, 3 movement against gravity but not resistance,
4 movement against resistance but able to be overcome, 5 movement against resistance normal
for age and gender.
8. Co-ordination: Heel of foot to contraleteral knee, down contralateral shin and repeat.
9. Reflexes: Knee and ankle.
10. Plantars: Up-going, down-going, mute, withdrawing.
11. Soft touch: Use cotton wool. To remember the surface anatomy for localising lesions
dermatomally – T4 nipples, T10 umbilicus, L2 hip, L5 big toe, S1 little toe.
12. Sharp touch: Use a neurotip.
13. Temperature: Offer to test, can use the tuning fork as the cold sensation.
14. Vibration: Use the tuning fork. 1st interphalangeal joint, then if not felt move up to lateral
malleolus, tibial tuberosity, and ASIS.
15. Proprioception: Start at the big toe and hold the sides, demonstrate “up” and “down” then test
with eyes closed. If not able to detect move up to ankle joint, knee joint etc.
16. To complete my examination I would like to…
▪ Examine the upper limbs and cranial nerves including fundoscopy.
▪ Check the heart rate and get a lying and standing blood pressure.
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▪ Dip the urine and obtain a fingerprick glucose result.
Questions:
1. If there is spastic paraparesis and a sensory level at T10 – where is the lesion in the spinal
cord? Either at or above T10 – this is why it would be important to image the entire spinal cord
above this level not just focus your imaging at that point.
2. Why can you see lower motor neurone signs at the level of a lesion causing spastic paraparesis in
the cervical spinal cord but not in the lumbar spinal cord? The spinal cord ends at L1. As such an
obstructing lesion in the cervical cord can cause compression of cord (myelopathy causing
spastic paraparesis below the lesion) and nerve roots (radiculopathy causing lower motor
neurone signs at the level of the lesion). In contrast, the lowest a lesion could be to cause
myelopathy is L1 and yet the nerve roots for nerves supplying the legs will be exiting lower
down than this (the exception being a conus medullaris lesion).
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Charcot Marie Tooth Disease (HMSN)

Scenarios: Difficulty walking, leg weakness.
Examination of Charcot Marie Tooth:
▪ Inspection: Pes cavus (place your palm across the bottom of the foot to show that you are
looking for this), hammer toes, callosities, muscle wasting (distal more than proximal giving
inverted champagne bottle appearance, hands can also be affected with resultant clawed
appearance), postural tremor, high steppage gait, scoliosis. Occasionally fasiculations.
▪ Palpation: Thickened nerves.
▪ Tone: Reduced.
▪ Power: Reduced with distal muscles affected more than proximal.
▪ Reflexes: Reduced, planters down-going or mute.
▪ Co-ordination: Normal though patient may have some sensory ataxia.
▪ Sensation: Typically milder than the motor involvement and involve reductions in vibration, soft
touch, sharp touch, and propriception. Positive Romberg’s
▪ Two rare forms have other associations such as pyramidal involvement or optic atrophy.
Differential diagnosis: The main differentials would be diabetes, alcohol and a vasculitis with
mononeuritis multiplex in a young individual.
▪ Hereditary: Other CMT subtypes, mitochrondrial disorders, hereditary neuropathy with pressure
palsies.
▪ Acquired neuropathies: Immune (Chronic inflammatory demyelinating polyneuropathy,

mutlifocal motor neuropathy with conduction blocks), metabolic (diabetes), toxic (alcohol,
medications), nutritional (B12 defiency), paraneoplastic, amyloidosis.
▪ If predominant motor consider motor neurone disease.
Investigations:
▪ Bedside tests: Basic observations including heart rate and lying and standing BP (autonomic
involvement from a neuropathy), finger prick glucose (to r/o diabetes), urine dipstick (glycosuria
of diabetes, proteinuria of amyloidosis), fundoscopy (optic atrophy of type 6).
▪ Bloods: To rule out alternatives.
▪ Special tests: Genetic testing (can now diagnose most forms of the disease this way but lots of
mutations so need to be guided by the apparent inheritance pattern and findings on
NCS/EMG), nerve conduction studies (axonal: preserved or only mildly slow conduction velocities
of low amplitude or demyelinating: slowed conduction velocities), nerve biopsy (axonal: axonal
degeneration and regeneration or demyelinating: demyelination with demyelination looking like
onion bulb abnormalities).
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Management:
▪ Non-pharmacological: Physiotherapy, orthotics (shoe modifications, braces), referral for genetic

counselling and support groups.
▪ Medical: Analgesia.
▪ Surgery: Orthopaedic procedures (soft tissue surgery like plantar fasciotomies and tendon
transfers, osteotomies, joint fusions).
Questions:
1. What is the inheritance pattern in Charcot Marie Tooth Disease? Variable – all mendelian
inheritance forms are seen including autosomal dominant and recessive, and X-linked are
recognised.
2. Which form of CMT do you think the patient has? Clinically it is difficult to asses and will be
based on a combination of physical findings, inheritance pattern, findings on nerve conduction
studies and genetic testing. Clues include:
▪ Thickened peripheral nerves: Type 1 and 3.
▪ Weakness worse in arms than legs: Type 2D.
▪ Pyramidal tract signs: Type 5.
▪ Optic atrophy: Type 6 (also consider Friedreich’s Ataxia, especially if cerebellar signs
present).
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Foot drop
Scenarios: Weakness, difficulty walking, pain in the leg.
Examining foot drop: If you’ve had the patient walking first you should have noticed a high stepping gait
on the affected side. If this is seen start looking carefully for causes of foot drop. Whilst the patient is
standing have a close look around the knee of the affected leg for scars and trauma, and quickly ask to
have a look at their lower back for any scars of previous surgery. Back on the bed look for wasting
(tibialis anterior) and check their shoes for scuffing at he front. Then asses their power and sensation as
normal.
Classic cases:
▪ L4/L5 nerve palsy: Weakness of ankle dorsiflexion, eversion and inversion with dermatomal
sensory loss over the lower leg between knee and ankle.
▪ Sciatic nerve palsy: Weakness of ankle dorsiflexion, eversion, inversion, and plantarflexion. Loss
of the ankle jerk and widespread sensory loss.
▪ Common perineal nerve palsy: Weakness of ankle dorsiflexion and eversion, in addition to toe
extensors; ankle inversion is intact. Sensory loss over the lateral calf and dorsum of the foot.
There may be a positive tinnels sign.
▪ Deep peroneal nerve palsy: Weakness of ankle dorsiflexion but with preserved ankle eversion
and inversion. Sensory loss between big toe and 2nd metatarsal.
▪ Congential: Hereditary neuropathy with pressure palsies, hereditary sensorimotor neuropathy

(aka Charcot Marie Tooth).
▪ Traumatic:
▪ L4/L5 root: Prolapsed disc.
▪ Lumbosacral plexus: Trauma, pelvic malignancy, radiotherapy.
▪ Sciatic nerve palsy: Trauma, intramuscular injection, buttock haematoma.
▪ Common peroneal nerve palsy: Trauma, compression (eg: from cast, habitual leg
crossing, lipomas).
▪ Endocrine: Diabetes, acromegaly.
▪ Toxic: Alcohol.
▪ Inflammatory: Polyarteritis nodosa, Churg Strauss, rheumatoid arthritis.
▪ Infection: HIV, leprosy, Lymes.
▪ Muscular: Motor neurone disease, myotonic dystrophy, myasthenia gravis.
Investigations:
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▪ Bedside tests: Finger prick blood glucose and urine dipstick for protein and
glucose (diabetes), fundoscopy (diabetic retinopathy, optic atrophy, retinitis pigmentosa), lying
and standing blood pressure (autonomic neuropathy).
▪ Bloods: FBC (anaemia, raised white cell counts), fasting

glucose (diabetes), HbA1c (diabetes), TFTs (hypothyroidism), haematinics (B12
deficiency), CRP/ESR (infection or inflammation), autoimmune screen (inc. ANCA and ANA
screening for causes of neuritis), LFTs and bone profile (paraneoplastic), virology (including HIV
serology).
▪ Imaging: MRI lumbar spine and sacrum (nerve root compression or spinal cord impingement
from mass lesions, osteophytes, disc prolapses).
▪ Special tests: Nerve conduction studies (localise the site of the lesion), electromyography (to
ascertain which muscles are involved and thus the likely site of the lesion).
Treatment:
▪ Non-pharmacological: Education, physiotherapy, occupational therapy, orthotics, DVLA

considerations.
▪ Medical: Analgesia, treat underlying cause.
Questions:
1. What are the branches of the common perineal nerve? There is a superficial and a deep branch.
2. What is the origin of the common peroneal nerve? The sciatic nerve.
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Multiple Sclerosis (MS)

Scenarios: Difficulty walking, falls, weakness, clumsiness, visual problems, symptoms worse after warm
bath.
Examining multiple sclerosis:
▪ General: Walking aids, suprapubic or other long term catheter in situ, increased tone, pyramidal
weakness, brisk reflexes, incordination.
▪ Cranial nerves: Optic atrophy, relative afferent pupillary defect, double vision, internuclear
ophthalmoplegia, nystagmus, slurred speech.
▪ Arms: Intention tremor and past pointing, dysdiadochokinesis.
▪ Legs: Clonus, up-going plantars, difficulty with proprioception and vibration sense.
▪ Optic atrophy: Congenital or acquired such as following optic nerve swelling, neuritis and AION;
and optic nerve compression by aneurysms and tumours, glaucoma, central retinal vein or
artery occlusion, inflammatory (sarcoidosis), and systemic (hypercapnoea, hypocalcaemia,
alcohol-tobacco).
▪ Internuclear opthalmoplegia: Multiple sclerosis and other brain stem inflammation (e.g.:
Behcets, sarcoidosis), brain-stem infarct or haemorrhage.
▪ Relative afferent pupillary defect: Optic neuritis, AION, optic atrophy.
▪ Spastic paraplegia: Hereditary spastic paraplegia, parasaggital meningioma, bilateral lesions of

the brain (strokes, vasculitis, cerebral palsy), spinal cord lesions (tumours, myelitis, abscesses,
ischaemia, trauma).
▪ Upper motor neurone and cerebellar signs: Spinocerebellar ataxia, Friedrichs ataxia (if sensory
features), multiple strokes.
Investigations: Diagnosis now based on the McDonald criteria (with lesions disseminated in time and
space) and made up of a combination of clinical and magnetic resonance imaging findings, sometimes
with the addition of CSF findings.
▪ Bedside tests: Urine dipstick (to distinguish a flare, from deterioration of symptoms secondary to
infection).
▪ Bloods: To rule out differentials – FBC (inflammation, anaemia), U&Es (renal

failure), LFTs (hepatitis), TFTs (hypothyroid/hyperthyroid), B12 (low), virology (HIV and
hepatitis), bone profile (hypercalcaemia).
▪ Imaging: Magnetic resonance imaging of the head and spine (periventricular, active lesions
often enhance with contrast).
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▪ Special tests: Visual evoked potentials (delayed), lumbar puncture and CSF analysis (oligoclonal
bands in CSF but not serum).
Management:
▪ Non-pharmaceutical: Education, physiotherapy, occupational therapy, speech and language

therapy, orthotics, specialist nurse and support group input, advice regarding benefits and social
care assessments, catheterisation (long term, suprapubic, intermittent), DVLA considerations.
▪ Medical: Acute flare – exclude infection then IV pulsed methylprednisolone (500mg/day);

disease modifying medications for relapsing-remitting – interferon beta (neutralising antibodies
can develop), glatiramer acetate, and dimethyl fumarate (the only oral option), or second line
natalizumab (PML risk), fingolimod, campath; symptomatic – urinary frequency with oxybutinin,
spasticity with baclofen, amantadine for fatigue, and analgesia.
Questions:
1. What types of multiple sclerosis are there? Relapsing remitting, primary progressive, secondary
progressive. In those with a first ever episode (i.e.: optic neuritis, transverse myelitis etc) and
signs consistent with multiple sclerosis on MRI the diagnosis is termed “Clinically Isolated
Syndrome” (CIS) – as they do not, as yet, have lesions separated in time (although this is
changing – see the 2010 McDonald criteria which allow an MS diagnosis after a single clinical
episode).
2. What is the outcome of CIS? Less than 50% develop MS in the subsequent 5 years.
3. What is spinocerebellar ataxia? Autosomal dominant trinucleotide repeat disorder which

demonstrates anticipation
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Old Polio
Scenarios: Childhood illness, meningitis, weakness of one limb, difficulty with speech or swallowing.
Examining a patient with old polio: Monoparesis with limb hypoplasia and wasting, hypotonic, reduced
or absent reflexes, normal sensory examination. Fasciculations are rare.
▪ Infantile hemiplegia.
▪ Motor neurone disease.
Investigations: In someone whom you suspected to have acute poliomyelitis you would want to do…
▪ Bedside tests: Oxygen saturations +/- arterial blood gas (type 1 and 2 respiratory failure), vital
capacity (respiratory involvement that may warrant intubation), heart rate and lying and
standing blood pressure (for autonomic involvement).
▪ Bloods: Acute and convalescent serology samples (look for positive IgM or a four-fold rise in
IgG).
▪ Special tests: PCR from throat, stool or CSF (alternative confirmatory test), lumbar puncture (to
exclude differentials and confirm diagnosis).
Management:
▪ Non-pharmacological: Preventative measures such as vaccination (Salk inactivated vaccine in the

UK at the present time), notify the consultant of communicable diseases if infection confirmed
and arrange urgent vaccination of contacts, strict bed rest, regular turning and pressure
relieving mattresses to prevent pressure sores, consider catheterisation, intubation if
respiratory failure develops.
▪ Medical: Laxatives, analgesia.
Questions:
1. What is post-polio syndrome? New onset deterioration in a case of established old polio with
the development of new muscle weakness and fatiguability. I would re-assure the patient that
this does not signify reactivation or re-infection, and is often multifactorial related to co-existing
pathologies and disuse phenomena.
2. What is the mode of transmission of polio? Faecal-oral with gastrointestinal infection that is
usually mild, but on occasion involves transmission to the motor neurones within the anterior
horn cells causing paralysis.
3. What vaccination types are available for polio? In the UK we use the Salk vaccine which is an
inactivated polio vaccine given by intramuscular injection – the benefits of this are that there
are no risks of vaccine induced infection and as such it can be given to those who are
immunsuppressed, but the drawbacks are that there is no community protection and it is
slightly less effective against the wild-type infection because GI infection not prevented. The
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alternative, that was used until recently, was the Sabine vaccine which was a live polio vaccine
taken orally. The benefits were that it prevented gut infection and because the vaccine strain
was shed in the stool there was a degree of community protection. The drawbacks were the
risks of reversion to a form of polio which could cause infection.
4. In what situations would the Sabine live form of the vaccine be favoured? During an outbreak.
5. Is polio still seen in the UK? The last case of naturally acquired polio infection in the UK was in
1984, cases may still be seen if acquired abroad or if the patient has received (or been in contact
with someone who has received) the oral (live, Sabin) polio vaccine.
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Peripheral Polyneuropathy
Presenting complaint: Difficulty walking, numbness, weakness.
Examining peripheral neuropathy: Inspect around the bed for walking aids, modified shoes and splints.
Look for fasiculations and muscle wasting, sensory ataxia is evidenced by postural tremor, or
pseudoathetoid movements and Romberg’s sign with the eyes closed. If there is severe weakness which
has been present for a long time (i.e.: especially the hereditary causes), look for pes cavus, Charcot joint
and kyphoscoliosis, or hair loss, shiny dry skin, hypo pigmentation, callosities, and ulceration. When the
patient is walking look for a high stepping gait suggestive of foot drop. Have a quick look at the hands for
finger prick glucose testing marks, clubbing, vasculitic changes and Mees’ Lines (arsenic poisoning). You
may also see dorsal guttering, or wasting of the thenar or hypothenar eminences. Feel the legs for
thickened nerves such as a prominent common peroneal nerve (Charcot Marie Tooth 1, leprosy,
amyloidosis, neurofibromatosis, acromegaly). With the remainder of the examination evaluate if it’s
motor, sensory, or sensorimotor; if its proximal or distal; small fibre (soft touch and sharp touch) or
large fibre (soft touch, vibration and propioception); and if it’s focal, multifocal, or polyneuropathic.
▪ Predominantly motor: CIDP, GBS, critical illness neuropathy, hereditary motor sensory
neuropathy, multifocal motor neuropathy and conduction block, porphyria, lead, dapsone. *Also
mention the possibility of pathology in other locations such as the anterior horn cell (progressive
muscular atrophy form), neuromuscular junction (botulism) and muscle (peripheral patterns
seen in myotonic dystrophy and inclusion body myositis).
▪ Predominantly sensory: Diabetes, alcohol, B12 or thiamine deficiency, isoniazid and vincristine,
vasculitis, uraemia.
▪ Mononeuritis multiplex: Diabetes, vasculitis (PAN, churg strauss, rheumatoid arthritis), infective
(HIV, lymes disease), paraneoplastic and amyloidosis.
Investigations:
▪ Bedside tests: Fundoscopy (diabetic retinopathy, optic atrophy, retinitis pigmentosa), finger
prick glucose (diabetes), urine dipstick (diabetic nephropathy or glomerulonephritis), lying and
standing blood pressure (autonomic neuropathy), vital capacity (if acute and progressive).
▪ Bloods: FBC (anaemia, raised white cell count, macrocytosis if B12 deficient or
alcoholic), U&Es (uraemia), fasting glucose (diabetes), HbA1c (diabetes), vitamin
B12 (deficiency), thyroid function tests (hypothyroidism), LFTs and bone profile (in consideration
of underlying malignancy or an elevated GGT of liver disease), CRP/ESR (inflammation or
infection), virology (HIV, consider Lymes.).
▪ Imaging: Depends on findings and history.
▪ Special tests: Nerve conduction studies (Axonal: reduced amplitude; Demyelinating: slowed
action nerve conduction), electromyography (Axonal: denervation of muscle), lumbar
puncture (raised protein and normal cell count of GBS, cytology for lymphoma), nerve
biopsy (sural nerve most commonly), genetic testing (CMT testing).
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Management:
▪ Non-pharmacological: Physiotherapy, occupational therapy, orthotics, social needs assessment,

DVLA considerations, CBT for chronic pain, TENS machine; stop drinking alcohol if this is
contributory; if diabetic refer to an endocrinologist, diabetic specialist nurse, podiatrist,
dietician.
▪ Medical: Analgesia if painful – NICE recommends amitryptilline (tricyclic), duloxetine (SNRI),

gabapentin or pregablin (both anticonvulsants) – they may require input from a chronic pain
team; also topical capcaisin; treat the underlying cause including tight glucose control in
diabetics.
Questions:
1. What is a Charcot Joint? A neuropathic joint where impaired joint position sense and sensation
of pain leads to chronic damage to joints such as the ankle and mid-foot, often accompanied by
poor healing responses related to peripheral vascular changes or autonomic neuropathies.
2. How would you distinguish clinically between a neuropathy and a myopathy? A myopathy tends
to have a proximal pattern of weakness, an absence of fasciculations and tendon reflexes
preserved until late in the disease course, with a tendency to develop contractures. The
presence of sensory signs as well should make a neuropathy more likely. If you are thinking of a
myopathy then it is important to consider if there is any cardiac involvement.
3. What medications cause neuropathy?
▪ Sensory: Isoniazid (so give pyridoxine).
▪ Sensorimotor: Vincristine, amiodarone.
▪ Motor: Dapsone.
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Proximal Myopathy
Possible scenarios: Weakness, falls, difficulty standing from sitting or climbing stairs, leg pain, difficulty
brushing hair.
Examination of a patient with proximal myopathy:
▪ Inspection: Wasting (either indicates longstanding myopathy like hereditary myopathies or IBM,
or particular conditions such as MND).
▪ Palpation: Tender or not, MRC grade of weakness, proximal or distal or both (think IBM).
▪ Extra points: In trying to narrow the differential comment on additional muscle involvement
such as ocular, pharyngeal, respiratory, or cardiovascular weakness; and whether it is fatiguable.
Classic cases:
▪ Diabetic amyotrophy: Glucose testing finger prick marks, evidence of renal replacement therapy
(AV fistulas, neck line scars, renal transplant scar), pain a predominant feature.
▪ Hyperthyroidism: Thyroid acropachy, postural tremor, warm and sweaty palms, exophthalamos,
goitre.
▪ Cushingoid: Glucose testing finger prick marks, thin skin, easy bruising, interscapular fat pad,
acne, striae.
▪ Dermatomyositis: Gottron’s papules, mechanic hands, photosensitivity, heliotrope rash, basal

lung crepitations. Is there evidence of underlying malignancy?
▪ Paraneoplastic: Cachexia, finger clubbing, lymphadenopathy, surgical scars, radiation tattoo

marks.
▪ End stage renal failure: Glucose testing finger prick marks, evidence of renal replacement
therapy (AV fistulas, neck line scars, renal transplant scar).
▪ Alcohol excess: Dupytren’s contracture, evidence of chronic liver disease (purpura, palmar
erythema, spider naevi, gynaecomastia, axillary hair loss, jaundice).
The differential diagnosis of the underlying cause of the proximal myopathy includes:
▪ Iatrogenic: Statins (especially high dose simvastatin), fibrates, steroids (especially

dexamethasone).
▪ Toxic: Alcohol, cocaine, heroin.
▪ Hormonal: Hypo- and hyperthyroidism, Cushing’s, hyperparathyroidism, diabetes.
▪ Nutritional: Vitamin D deficiency.
▪ Inflammatory: Polymyositis, dermatomyositis, inclusion body myositis, sarcoidosis.
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▪ Hereditary: Beckers, limb girdle fascioscapulohumeral dystrophy, proximal myotonic dystrophy,

glycogen and lipid storage disorders.
▪ Infectious: HIV, influenza, hepatitis B/C.
The differential diagnosis of a proximal myopathy includes a motor neuropathy (affecting the motor
nerves rather than muscle; i.e.: porphyria), motor neurone disease (affecting the anterior horn
cell), Guillain Barre Syndrome (affecting peripheral nerves), and myasthenia gravis (affecting the NMJ).
Consider if fatiguable weakness or if there are fasiculations, loss of- or exaggerated deep tendon
reflexes or any upper motor neurone signs.
▪ Bedside tests: Forced vital capacity (if less than 15mls/kg they should be discussed with
ITU), blood sugar (for diabetes), ECG (for cardiac involvement), urine dipstick (if positive for
blood it may actually be myoglobin and indicate rhabdomyolysis)
▪ Blood tests: Depending on other clinical findings, first line tests for common causes U&Es,
fasting glucose, CK, vitamin D, TFTs, ESR/CRP followed by cortisol, PTH, ANA, anti-Jo1 antibodies,
ACE, virological screens.
▪ Imaging tests: MRI muscle (to identify inflammation and sites for biopsy), additional imaging
may be required for the evaluation of malignancy.
▪ Special tests: Needle EMG (short duration and reduced amplitude), muscle biopsy (for
histopathology, if inflammatory may be amenable to immunosuppressives).
Referral:
Usually managed as an outpatient, may need to consider outpatient rheumatology referral. If evidence
of respiratory involvement of rhabdomyolysis they will need urgent inpatient evaluation.
Management:
Very dependent on underlying cause, but consider simple measures like medication discontinuation,
alcohol cessation, optimisation of co-morbidities such as diabetes, thyroid disease and renal failure.
Possible questions:
1. Which medications increase the risk of myopathy in patients on statins? P450 inhibitors such as
fibrates, cyclosporin, macrolides, amiodarone, and protease inhibitors; also grapefruit juice.
2. Which other patient factors increase the risk of myopathy on statins? Old age, renal and/or liver
failure, hypothyroidism, alcohol excess, strenuous exercise.
3. What factors predispose to vitamin D deficiency? Old age, darker skin colour, infrequent
exposure to sunlight, renal failure, malabsorption due to conditions like Coeliac’s disease,
medications that increase vitamin D breakdown like rifampicin and phenytoin.
4. What are the causes of a raised CK? Muscle cell death (cardiac muscle, skeletal muscle),
exercise, Afro-Caribbean ethnicity, IM injections, hypothyroidism, motor neurone disease.
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Spastic Paraparesis
Scenarios: Difficulty walking, falls, back pain.
Examination of spastic paraparesis: Look around the bed for walking aids or wheelchairs, and check for
the presence of a catheter. If the patient can walk, look for a spastic gait with bilateral circumduction
described as “scissoring”, and whilst they are standing inspect the spine for scars. If not able to walk, ask
them to sit forward so you can see the spine whilst doing your inspection – you may want to palpate
down the spine to asses for any tender points. If you see a scar think of your surface landmarks to help
localise it – T3 at spine of scapula, T7 and lower tip of scapula, and L4 at posterior superior iliac spine.
Move down to the feet looking for neuropathic joints, high foot arches, and disuse wasting. There will be
increased tone, clonus, spasms, weakness in a pyramidal pattern (extensors stronger than flexors),
hypereflexia, and upgoing plantars. There may or may not be sensory involvement depending on the
underlying cause, but if absent you should consider diagnoses like MND and HSP, whilst if present you
should see if you can find a sensory level to localise the lesion – by definition the lesion must be above
L1 as this is where the pyramidal tracts (i.e.: spinal cord) end. If you have time and the examiners allow,
do a limited further examination including upper limb reflexes, checking for past pointing and intention
tremor, and eye movements for nystagmus or an INO. I would like to complete my examination by:
▪ Taking a history in particular focusing on symptoms affecting other body sites such as bowel and
bladder function and the bulbar area, past medical history, and family history.
▪ Perform a digital rectal examination to asses for anal tone and check for saddle anaesthesia.
▪ Complete a neurological examination of the arms and cranial nerves, including fundoscopy and
eliciting any cerebellar signs.
Classic cases:
▪ Cerebral palsy: Scenario describing birth injury or illness around the neonatal period, intellectual
impairment, spastic paraparesis, brisk reflexes, upgoing plantars.
▪ Hereditary spastic paraparesis: Spastic paraparesis, brisk reflexes, upgoing plantars. Absence of
sensory signs.
▪ Friedrich’s ataxia: Pes cavus, cerebellar signs, wasting, spastic paraparesis, reflexes may be
absent. Peripheral sensory neuropathy including dorsal column loss.
▪ Multiple sclerosis: Spastic paraparesis, brisk reflexes, upgoing plantars, cerebellar signs, and a
history of visual or sphincter disturbance. There may be sensory signs, dorsal column more
commonly than spinothalamic.
▪ Anterior spinal artery occlusion: Spastic paraplegia, brisk reflexes, upgoing plantars. Loss of pain
and temperature with a sensory level; dorsal columns spared.
▪ Motor neurone disease: Spastic paraparesis, brisk reflexes, upgoing plantars, wasting,
faciculations. Absence of sensory signs.
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The possible site of the lesion includes spinal cord (demyelination, trauma, cord compression due to
prolapsed disc or space occupying lesion, vascular event or congenital myopathic process), anterior horn
cell (motor neurone disease) or parasaggital (meningioma). In more detail…
▪ Congenital: Hereditary spastic paraparesis, Friedrich’s ataxia, spinocerebellar ataxia, or other

childhood conditions like cerebral palsy.
▪ Traumatic.
▪ Compressive: Prolapsed disc, tumour (primary or secondary, benign or malignant), abscess,

Pott’s disease, haematoma or haemorrhage; or a parasaggital meningioma.
▪ Demyelinating: Multiple sclerosis, neuromyelitis optica (Devic’s disease), subacute combined

degeneration of the cord, transverse myelitis (HSV, VZV, HIV, paraneoplastic, autoimmune,
radiation), tropical spastic paraparesis.
▪ Other: Motor neurone disease, syringomyelia, anterior spinal artery occlusion.
Investigations:
▪ Bedside tests: Blood pressure (autonomic involvement), vital capacity (respiratory muscle
involvement).
▪ Bloods: Bone profile, LFTs, immunoglobulins and protein electrophoresis (malignancy); FBC, CRP,
ESR (malignancy, infection, inflammation); virology and serology (HIV, HTLV-1, syphilis); anti-
aquaporin 4 IgG antibodies (NMO), ANA (autoimmune causes); haematinics (B12 deficiency with
SACDC).
▪ Imaging: MRI spine (demyelination, trauma, compression; localise site of lesion, asses for
intervention).
▪ Special tests: Visual evoked potentials and MRI brain (multiple sclerosis for lesions disseminated
in time and place), lumbar puncture (oligoclonal bands in CSF not serum, MCS, AFBs, syphilis,
ACE level), EMG (fibrillation and fasiculations in MND).
Treatment:
▪ Non-pharmacological: Education, physiotherapy, occupational therapy, orthotics, social services

assessment, DVLA considerations.
▪ Medical: Depends on underlying cause – steroids (IV methylprednisolone, PO dexamethasone),

radiotherapy.
▪ Surgical: Depends on underlying cause – decompression, fixation.
Questions:
1. What malignancies commonly metastasise to bone? Solid organ ones like lung, breast, prostate,
kidney and thyroid; and haematological conditions affecting bone should also be considered
such as multiple myeloma.
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2. What is the differential diagnosis of a flaccid paraparesis? Myopathies (inflammatory, toxic,

inherited), neuromuscular junction disorders (botulism, myasthenia gravis), neuropathy
(hereditary motor sensory neuropathy, alcohol, lead poisoning, porphyria), anterior horn cells
(motor neurone disease).
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Upper Limbs
1. Inspection around the bed: Walking aids, canes (white = visually impaired, red + white stripes =
visually and hearing impaired), splints, orthoses.
2. Inspection of the patient: Start from the top of their head and work your way down – body
habitus, frontal balding, scars around the scalp, wasting of temporalis, ptosis, hearing aids,
glasses, ICD/pacemaker, sternotomy scar, joint deformities of the hands.
3. Inspect the spine: Look for scoliosis and kyphoscolisosis, scars (surface anatomy: spine of
scapula T3, lower tip of scapula T7, posterior superior iliac crest L4).
4. Close inspection of arms: Wasting, fasiculations, ulceration, scars, rashes. Hands up eyes closed
– check for pronator drift, rebound phenomenon and grip myotonia.
5. Tone: Turn the wrist to feel for cog-wheeling, then feel for lead pipe rigidity at the elbow, and
generally for hypotonia.
6. Power: Shoulder abduction and adduction, elbow flexion and extension, wrist flexion and
extension, finger abduction and adduction, thumb abduction. Grade from 0 no movement, 1
flicker of movement, 2 movement but not against gravity, 3 movement against gravity but not
resistance, 4 movement against resistance but able to be overcome, 5 movement against
resistance normal for age and gender.
7. Function: Squeeze my finger as hard as you can…touch each finger to your thumb.
8. Co-ordination: Hands out palms up, push them down whilst patient tries to keep them in the
same position; dysdiadochokinesis, past pointing and intention tremor. If you demonstrate the
latter – take them just past their full stretch so they have to lean forward and this will be your
opportunity to show truncal ataxia. If they steady themselves with their hand, get them to cross
this across their chest to isolate the trunk.
9. Reflexes: Biceps, triceps, supinator.
10. Soft touch: Use cotton wool. Basic surface anatomy to remember when testing dermatomes –
get the patient into the anatomical position – shoulder C4, middle finger C7, nipples T4,
umbilicus T10.
11. Sharp touch: Use a neurotip.
12. Temperature: Offer to test, can use the tuning fork as the cold sensation.
13. Vibration: Use the tuning fork. 1st interphalangeal joint, then if not felt move up to radial at
wrist, elbow, and shoulder.
14. Proprioception: Start at the IPJ of the thumb and hold the sides, demonstrate “up” and “down”
then test with eyes closed. If not able to detect move up to base of the thumb, wrist, elbow, and
shoulder.
15. Consider special tests: Percussion myotonia over the thenar eminence, tinels test at the wrist or
cubital tunnel, fromment’s sign with finger adduction and a piece of paper.
16. To complete my examination, I would like to…
▪ Examine the lower limbs and cranial nerves including fundoscopy.
▪ Check the heart rate and get a lying and standing blood pressure.
▪ Dip the urine and obtain a fingerprick glucose result.
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Cerebellar Syndrome
Scenarios: Clumsiness, falling into things, unsteadiness.
Examining a patient with a cerebellar disorder:
▪ General inspection: Look around the patient for walking aids, and inspect the patient especially
within the hairline and neck for scars indicative of previous craniotomy, mastoidectomy and
trauma.
▪ Screening test: With arms outstretched you should get your first clue for cerebellar disease
when screening for tremor, pronation drift, grip myotonia and the rebound phenomenon. The
latter will also highlight if it is a unilateral (will need to test CN 5, 6, 7, and 8) or bilateral (will
need to test sensation) phenomenon.
▪ Tone: Reduced (cerebellar), increased (suggests corticospinal tract involvement).
▪ Power: Normal, pyramidal weakness (suggests corticospinal tract involvement).
▪ Reflexes: Pendular (cerebellar), increased (corticospinal tract involvement), reduced/absent

(peripheral neuropathy).
▪ Co-ordination: Intention tremor, past pointing, dysdiadochokinesis.
▪ Asses for nystagmus and slurred speech.
▪ If signs were unilateral….check trigeminal motor and sensory, assess eye movements for a
lateral rectus palsy, check facial movements and assess hearing.
▪ If signs were bilateral….check upper limb sensation, look for an implantable cardiac device
suggesting cardiomyopathy, look at the finger tips for diabetic finger prick testing marks, inspect
the feet for pes cavus.
▪ Ask the patient to walk (do earlier in a lower limb examination), including heel-to-toe and rule
out sensory ataxia with Romberg’s test.
▪ To complete my examination I would like to: Perform a full cranial nerve, upper limb and lower
limb examination including performing fundoscopy looking for optic atrophy.
Unilateral:
▪ Demyelination.
▪ Vascular including ischaemic or haemorrhagic infarcts and arteriovenous malformations.
▪ Space occupying lesions within the cerebellar hemispheres or cerebellopontine angles including
tumours (primary or secondary), abscesses and granulomas.
Bilateral:
▪ Bilateral versions of all the above.
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▪ Inherited: Spinocerebellar ataxias, Friedreich’s ataxia, ataxia telangiectasia.
▪ Metabolic: Alcohol, B12 deficiency.
▪ Iatrogenic: Phenytoin, carbamazepine.
▪ Paraneoplastic and endocrine (eg: hypothyroidism).
Investigations:
▪ Bedside tests:
▪ Bloods: FBC (anaemia, macrocytosis, cytopaenias, inflammatory response), LFTs including

GGT (alcoholism and mitotic disease), bone profile, immunoglobulins and protein
electrophoresis (paraneoplastic cerebellar
phenomena), TFTs (hypothyroidism), ESR/CRP (infectious and immune
aetiologies), haematinics (B12 and folate deficiency), drug levels (phenytoin, carbamazepine).
▪ Imaging: MRI (gives the best images of the posterior fossa).
▪ Special tests: Lumbar puncture (unmatched oligoclonal bands, infection), genetic

testing (friedrichs ataxia and spinocerebellar ataxias), urinary copper (high in
Wilson’s), caeruloplasmin (low in Wilson’s), anti-hu/yo (paraneoplastic), coeliac screen (rare
cause of ataxia).
Management:
▪ Non-pharmacological: Counsel, signpost to support and give supplementary written

information; manage within an MDT (general practitioner, neurologist, cardiologist,
psychologist, neuro-ophthalmologist, neurosurgeon, physio, OT, social care, SALT); avoid
precipitants like alcohol.
▪ Medical: Treat underlying cause
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Fascioscapulohumeral Muscular Dystrophy

Scenarios: Family history of weakness, difficulty using arms, arm weakness.
How to examine fascioscapulohumeral muscular dystrophy:
▪ General inspection: Bilateral ptosis, myopathic face, wasting of facial and limb girdle muscles,
hearing aids, pacemaker in situ, look for orthoses for foot drop or a stick indicating mobility
issues.
▪ Perform the neurological examination: Proximal weakness, weakness when arms abducted,
winging of the scapula.
▪ Finish off once you know the diagnosis with: Ask patient to whistle (may find this difficult), ask
them to stand so you can examine for excessive lumbar lordosis (due to weak abdominal
muscles), push against a wall to bring out the winging of the scapulae, and ask them to walk
(looking for bilateral foot drop and waddling gait).
Other muscular dystrophies include limb-girdle (may be enlarged calves), Duchenne (severe, childhood
onset), distal, and oculopharangeal (complete ptosis, ophthalmoplegia, dysphagia).
Questions:
1. What is the mode of inheritance? Autosomal dominant.
Friedreich’s Ataxia
Scenarios: Difficulty or inability walking, recent insertion of a pacemaker or ICD, clumsiness, weakness,
numbness.
Examining a patient with Friedreich’s ataxia:
▪ Speech may sound dysarthric with slurring.
▪ Inspection: Wheelchair (most become unable to walk during their teens/twenties), other
mobility aids or orthotic devices including ankle braces, on the front of the chest for an
implantable cardiac device such as a pacemaker or defibrillator, at the finger tips for blood
glucose monitoring marks, then ask them to sit forward and inspect posteriorly for
kyphoscoliosis, uncover the feet and demonstrate pes cavus with a flat palm against the base of
the foot.
▪ Screening tests: Look for rebound of outstretched arms on pushing down with eyes closed, due
to the marked sensory ataxia there may also be wandering of the hands and fingers with eyes
closed and arms outstretched.
▪ Tone: Normal, increased or decreased.
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▪ Power: Variable, but there may be a pyramidal pattern of weakness proximally due to the
myelopathic process with weakness and wasting secondary to neuropathy distally. Note that
upper motor neurone signs are mostly seen in the lower limbs.
▪ Reflexes: Absent, particularly more distally; if allowed to test plantars or if examining the legs,
you will often find that these are upgoing.
▪ Co-ordination: Due to the cerebellar features there may be past pointing, intention tremor, and
dysdiadochokinesis.
▪ Sensation: Peripheral sensory loss, particularly of proprioception and vibration sense.
▪ Ask them to walk if able.
▪ Given your suspicion for Friedreich’s ataxia at this point: Ask them to open their mouth and
inspect for a high arched palate then check eye movements for nystagmus.
▪ Complete your examination with further examination of cranial nerves, including fundoscopy for
optic atrophy, upper and lower limb neurological examination, cardiovascular examination and
electrocardiogram looking for evidence of hypertrophic cardiomyopathy and associated
arrythmias, and obtain a urine dipstick for glycosuria.
▪ Explain that you would like to speak to the patient and ask about any relevant family history of
similar conditions.
Other causes of up going plantars and absent reflexes include:
▪ Subacute combined degeneration of the cord.
▪ Dual pathology: Peripheral neuropathy of any cause combined with degenerative disease of the
spine causing a myelo- or myeloradiculopathy.
▪ Taboparesis.
▪ Anterior horn cell disease.
▪ Conus medullaris lesion.
But note that few of the above give a unifying diagnosis for a myelopathic process, peripheral
neuropathy (mainly a sensory ataxia) and cerebellar signs, particularly in the presence of pes cavus. A
very rare mimic is vitamin E deficiency.
Investigations:
▪ Bedside tests: As in the presentation above – urine dipstick (diabetes), electrocardiogram (left
ventricular hypertrophy and strain, arrythmias), fundoscopy (optic atrophy).
▪ Bloods: Genetic testing for a triplet repeat expansion within frataxin (on chromosome
9), vitamin E levels (rule out vitamin E deficiency).
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▪ Imaging: Echocardiogram (to asses for cardiomyopathy), MRI brain and spinal cord (atrophic
changes may be seen).
▪ Special tests: Electrophysiology.
Management:
▪ Non-pharmacological: Counsel them on the diagnosis, in particular regarding the familial

element (autosomal recessive with triplet repeat expansion demonstrating anticipation) and
increased risk of cardiomyopathy and diabetes, signpost to appropriate sources of support, offer
genetic counselling; during the course of their illness they may require input from a broad range
of individuals including doctors (neurologist, cardiologist, general practitioner, endocrinologist),
specialist nurse, physiotherapist, occupational therapist, speech and language therapist,
orthotics team, social care team; some may wish to discuss elements of advanced care planning.
▪ Medical: Management of diabetes and arrythmias.
▪ Surgical: Orthopaedic correction of spinal and joint deformities; implantable cardiac device
insertion.
Questions:
1. What is the role of frataxin? It is a mitochondrial protein thought to be involved in iron

homeostasis – the mutation in Friedreich’s ataxia leads to reduced levels of frataxin.
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Huntington’s Disease
Scenarios: Difficulty holding things, memory loss.
Examining Huntington’s Disease: Look for chorea (large volume, unpredictable, jerky movements),
athetosis (slow, writhing movements), and hemiballismus (violent, flinging movements); there may be
occasional facial grimaces. As you speak to them note if there is any dysarthria. During the examination
see if you can elicit any features of ataxia (dysdiadochokinesis, intention tremor, past pointing, broad
based gait), rigidity and bradykinesia. To complete the examination I would like to…
▪ Take a history in particular asking about a family history (if young female – about the possibility
of pregnancy or the OCP).
▪ Perform an Abbreviated Mental Test Score.
▪ Complete a full neurological examination including the cranial nerves and lower limbs, and take
a history.
▪ Inherited: Huntington’s disease, Wilson’s disease.
▪ Vascular: Stroke, polycythaemia rubra vera.
▪ Immune mediated: Sydenham’s chorea, SLE, anti-phospholipid syndrome.
▪ Hormonal: Pregnancy (chorea gravidarum), OCP use, hyperthyroidism.
▪ Toxic: Anti-psychotics, dopaminergics in Parkinsonian patients, anti-epileptics.
▪ Infectious: HIV, Lymes.
▪ Paraneoplastic.
Investigations:
▪ Bedside tests: Dipstick pregnancy test (chorea gravidarum).
▪ Bloods: Genetic testing (within a specialised unit with adequate support – it is not preventable
or curable; normal <27 repeats, abnormal >40 repeats) and in consideration of the differential
diagnosis ANA, anti-dsDNA, and anti-cardiolipin (SLE and APS); FBC (polycythaemia); LFTs,
urinary copper and caeruloplasmin (Wilson’s disease), and TFTs (hyperthyroidism).
▪ Imaging: MRI and CT brain (rarely useful diagnostically – enlarged frontal horns of lateral
ventricles, loss of stratal volume).
Treatment:
▪ Non-pharmacological: Education, highlight support groups, genetic counselling information

(could enable pre-conception decisions to be made for young individuals), physiotherapy,
occupational therapy, speech and language therapy, DVLA considerations, social services
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assessment, support the patient with advanced care planning, district nurses if pressure sores
develop.
▪ Medical: Tetrabenazine (anti-choretic); treat complications such as depression (SSRIs), rigidity

(dopamine agonists, baclofen), and psychosis (atypical anti-psychotic agents – olanzapine,
risperidone, also used for chorea).
Questions:
1. What is the genetic defect in Huntington’s Chorea? Autosomal dominant CAG triplet repeat
expansion on chromosome 4 which shows anticipation.
2. What are the complications of Huntington’s? Seizures, progressive dementia, psychiatric

disturbances including psychosis and depression, development of rigidity, aspiration
pneumonia.
3. How could someone have Huntington’s without any known family history? Expansion of the
trinucleotide repeat (e.g.: during spermatogenesis) causing anticipation and thus the expansion
size to enter the clinically significant range, adopted or incorrect paternity, concealment of the
disease in earlier generations (e.g.: suicide, explained as “dementia”), and misdiagnosis.
4. What is Juvenile Huntington’s? Usually associated with triplet repeat lengths >60, occurs in
those <20 years of age, chorea less marked, rigidity and bradykinesia more pronounced, seizures
common (not a feature of the adult form).
5. What other autosomal dominant conditions are you aware of? Other neurological disorders
(spinocerebellar ataxia, myotonic dystrophy, neurofibromatosis), cancer syndromes (BRCA1,
BRCA2, FAP, HNPCC, MEN), and renal disease (ADPCKD, VHL).
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Motor neurone disease

Scenario: Weakness, difficulty with fine movements, dropping things, twitching muscles, dysphagia and
slurred speech, inappropriate laughing or crying.
Examining a patient with motor neurone disease: Note the presence of any mobility aids at the
bedside. On general inspection they may be slim due to a combination of poor oral intake secondary to
bulbar involvement, and wasting due to the underlying disease process. There may be a PEG in-situ for
assisted feeding. Their speech may be slurred. Look carefully along the arms and legs for fasciculations
and wasting – particularly within the small muscles of the hands (lumbricals and interossei), thenar and
hypothenar eminences and thigh, as they can be an easy place to spot these features. There may be
marked abnormalities like wrist drop. There may be increased or decreased tone. There will be
weakness on examination and difficulty with fine finger movements is common. Reflexes may be brisk
or absent, plantars may be upgoing. Co-ordination will be normal within the limits of their weakness.
Sensation will be intact unless there is dual pathology (e.g.: co-existent diabetic neuropathy). If sure
about the diagnosis, and you have some time at the end, ask the patient to open their mouth and
inspect the tongue for wasting and fasciculations.
Classic cases:
▪ Amyotrophic lateral sclerosis : Form of MND. Mixed upper and lower motor neurone signs.
Almost pathognomonic if you find both within the same muscle – e.g.: fasiculating bicep with a
brisk bicep reflex.
▪ Primary lateral sclerosis: Form of MND. Upper motor neurone signs only.
▪ Progressive muscular atrophy: Form of MND. Lower motor neurone signs only.
▪ Progressive bulbar palsy: Form of MND. May cause a pseudobulbar (UMN, small and slow
moving tongue, hot potato voice) or bulbar (LMN, wasted and fasciculating tongue, nasal or
donald duck speech) palsy.
▪ Muscular excitability disorders: A spectrum including benign fasciculation syndrome, cramp

fasciculation syndrome, neuromyotonia and Morvan’s syndrome. These typically involve
fasciculation but otherwise normal neurological examination, and can be associated with anti-
voltage gated potassium channel antibodies.
▪ Multifocal motor neuropathy with conduction block: Asymmetrical, distal arm, lower motor
neurone weakness, fasciculations and wasting causing clawing of the hands. Normal sensory
examination. May respond to IVIg.
▪ Inclusion body myositis: Distal weakness, particularly of the fine finger flexors. Normal sensory
examination.
▪ Cervical radiculomyelopathy: Would include sensory signs. Due to degenerative spinal disease.
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▪ Dual pathology (eg: cervical myelopathy and peripheral neuropathy): Usually includes sensory
signs.
▪ Spinobulbar muscular atrophy: Lower motor neurone weakness, gynaecomastia, perioral

fasciculations, and diabetes.
▪ Chronic inflammatory demyelinating polyneuropathy: Lower motor neurones affected only.
Investigations:
▪ Bedside tests: Oxygen saturations (respiratory failure, aspiration), arterial blood gas (respiratory
failure – hypoxia, hypercapnia).
▪ Bloods: CK (may be raised in inflammatory myopathies including inclusion body), anti-GM1

antibodies (multifocal motor neuropathy with conduction block), TFTs (thyroid dysfunction
causing neurological impairment), CRP/ESR (inflammatory myopathies); consider screening for
malignancy (LFTs, bone profile, protein electrophoresis, immunoglobulins) or hereditary/rare
disorders (toxicology screen including lead, genetic screening).
▪ Imaging: Magnetic resonance imaging of the spinal cord (to exclude radiculopathy and/or
myelopathy).
▪ Special tests: Electromyography (fibrillation and fasciculations), nerve conduction

studies (normal motor and sensory conduction), spirometry (respiratory muscle
weakness), muscle biopsy (inclusion body myositis), lumbar puncture (high CSF protein in CIDP).
Treatment:
▪ Non-pharmacological: Education and support, physiotherapy (including respiratory physio),

occupational therapy, DVLA considerations, social services assessment, dietetics review, speech
and language therapy, advanced care planning (covering areas like assisted feeding, treatment
of aspiration pneumonia, preferred place of care, escalation ceilings, use of non-invasive
ventilation), palliative care input including community review and access to hospice care.
▪ Medical: Riluzole (disease modifying), hyosceine (respiratory secretions), diazepam or baclofen

(muscle cramps and spasticity), analgesia.
Questions:
1. What are the diagnostic criteria used for motor neurone disease? The revised El Escorial criteria,
following review and investigation by a neurologist.
2. How does riluzole work? It’s a neuroprotector that prevents glutamate release, shown to
prolong life by 2-4 months.
3. What is the usual mechanism of death? Many have fears regarding choking and pneumonia, but
in reality most patients pass away in their sleep as a result of hypercapnia.
4. What should you tell patients about life expectancy? Be honest and sensitively explain that it is
variable with some individuals living over 10 years from diagnosis, and others only 6 months
with an average of 2-3 years.
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5. Is motor neurone disease inherited? It is estimated that about 5% of cases are familial, though if
this is the case the patient is usually aware of it – if just their case is known, genetic testing is
not warranted.
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Myotonic Dystrophy
Scenarios: Weakness, family history of weakness, family history of problems with general anaesthetic.
Examining a patient with Myotonic Dystrophy: A possible template for examining a patient who you
suspect to have myotonic dystrophy following initial inspection is:
1. Inspection: Frontal balding, bilateral ptosis, myopathic facies, wasting of temporalis + masseter
+ sternocleidomastoid, delayed eye opening after tightly closed shut, pacemaker,
gynaecomastia.
2. Focused cranial nerve examination:
▪ 3rd/4th/6th: Check eye movements for ophthalmoplegia.
▪ 5th/trigeminal motor: clench your jaw for me.
▪ 7th/facial: lift up your eyebrows, puff out your cheeks, show me your teeth. Now scrunch
your eyes up as tight as you can…and relax them.
▪ 11th/accessory: push your face against my hand as if you’re looking over your
shoulder. Palpate the sternocleidomastoid as you do this.
3. Speech: Slurred and low volume.
4. Palpate for myotonia: Grip-release myotonia (Shake my hand; grip my fingers and let go), and
percussion myotonia (tendon hammer tapped onto thenar eminence causes dimpling and in
drawing of the thumb).
5. Focused examination of the arms:
▪ Tone: Reduced.
▪ Power and pronator drift: Reduced, distally more than proximally – try to demonstrate
to the examiner the functional effects of loss of fine finger dexterity, and watch out for
winging of the scapula.
▪ Reflexes: Absent.
▪ Sensation: soft touch, sharp touch, vibration and percussion sense should all be normal.
6. Ask the patient to walk: Bilateral foot drop may be evident.
7. To complete:
▪ Do a full cardiovascular examination.
▪ Perform fundoscopy for cataracts.
▪ Examine the thyroid for nodules.
▪ Examine the external genitalia for testicular atrophy.
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Differential diagnosis: It is often a classical case in the exam, but you can offer that the differential
diagnosis of bilateral ptosis and weakness in the clinical setting would be myasthenia gravis (fatiguable,
no myotonia), or fascioscapulohumeral dystrophy (prominent face/neck weakness with winged scapula
and proximal weakness, no myotonia). Another differential they may enquire about is peripheral
weakness in which case consider peripheral myopathy (e.g.: inclusion body myositis) or peripheral
motor neuropathy (e.g.: CIDP, GBS, diptheria, alcohol, MFMN, critical care neuropathy, lead, porphyria)
or anterior horn cell disease (eg: motor neurone disease).
Investigations:
▪ Bedside tests: finger prick glucose (diabetes), urine

dipstick (glycosuria), electrocardiogram (arrythmias and conduction abnormalities of
cardiomyopathy), fundoscopy (cataracts).
▪ Bloods: Fasting glucose (insulin resistance), HbA1c (insulin resistance), creatinine kinase (can be
raised).
▪ Special tests: Genetic testing (alone this can confirm the diagnosis in all
patients), electromyography (patients may have had this whilst being investigated but it is not a
requirement for diagnosis; burst of repetitive discharges on needle insertion).
Management:
▪ Non-pharamcological: Genetic counselling, education, physiotherapy, occupational therapy,

speech and language therapy, social care assessment, CPAP for OSA.
▪ Medical: Medical management of diabetes, arrythmias, symptom control of constipation.
▪ Surgical: Pacemaker and implantable cardiac defibrillator insertion, cataract surgery, major
surgery to be preceded by careful pre-operative assessment given anaesthetic risks.
Questions:
1. What mutation causes myotonic dystrophy? Autosomal dominant defect involving a triplet
repeat expansion in myotonin protein kinase on chromosome 19. Anticipation is most severe if
inherited maternally (unlike other triplet repeat disorders where it is paternal).
2. What complications can patients with myotonic dystrophy develop?
▪ Cutaneous: Early frontal balding.
▪ Ocular: Cataracts.
▪ Cardiovascular: Conduction blocks and arrhythmias, cardiomyopathy.
▪ Respiratory: Abnormal sensitivity to barbituates and morphine, aspiration pneumonia,

obstructive sleep apnoea.
▪ Gastrointestinal: Dysphagia, constipation, diarrhoea, deranged LFTs, gallstones.
▪ Endocrine: Testicular atrophy and infertility, menstrual abnormalities and miscarriages,

insulin resistance and diabetes.
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3. What is the differential diagnosis of bilateral ptosis?
▪ Fascioscapulohumeral dystrophy: Wasting of facial muscles, sternocleidomastoids and

limb girdle muscles, winging of scapula, bilateral foot drop.
▪ Kearns Sayre syndrome: Severe opthalmoplegia bilaterally, retinitis pigmentosa.
▪ Myasthenia gravis: Fatiguability, variability of signs, no clear neurological pattern.
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Parkinson’s Disease
Scenarios: Falls, memory loss, tremor.
Examining Parkinson’s Disease: You need to display the three core features of bradykinesia, ridigity and
tremor; and exclude obvious differentials including Parkinson’s plus syndromes. A possible examination
guide once you’ve noticed the expressionless face and pill rolling tremor is as follows:
1. Inspection: Expressionless face, infrequent blinking, sebhorreic dermatitis, drooling of saliva,

coarse pill rolling tremor, involuntary movements (treatment side-effect).
2. Can you tap your left hand (then right) on your knee? Worsening of tremor.
3. Can you hold your arms out like this for me? Rule out a postural tremor.
4. Can you take your index finger and touch your nose and then my finger? Rule out intention
tremor and past pointing.
5. Gait: Shuffling and festinant gait with loss of arm movement, slow turning, postural instability.
6. Tone: Cog-wheel and lead pipe rigidity.
7. Can you write down a sentence for me? Micrographia.
8. Can you bring your thumb and index finger together like this over and over again? Movement
gradually diminishes in size.
9. Look up for me: Supranuclear palsy – if they cannot do this, check the oculocephalic reflex as this
should be normal.
10. Repeat after me – baby hippopotamus and british constitution: Slurred speech.
11. Inspect the chest for a scar suggestive of deep brain stimulation operation.
12. Request: Heart rate and lying and standing blood pressure looking for autonomic involvement
and abbreviated mental test score assessing for cognitive dysfunction.
13. Ask patient: Have you noticed a change in your sense of smell, problems with your memory,
having very vivid dreams, or have a family history of problems with your movement or memory?
14. Review: History, medications list and ophthalmological review for Kayser Fleisher rings.
▪ Parkinson’s disease and Lewy Body dementia.
▪ Parkinson’n plus: multisystem atrophy, progressive supranuclear palsy.
▪ Parkinsonism: Medications including metoclopramide, haloperidol and chlorpromazine.
▪ Small vessel disease.
▪ Wilson’s disease.
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Investigations: Patient’s should be referred, untreated, to a specialist to diagnose the condition. The
diagnosis is clinical but the following may be required.
▪ Imaging: CT/MRI (if other causes suspected or patient fails to respond to L-dopa), single photon
emission computed tomography (to differentiate between PD and essential tremor).
▪ Special tests: Caeruloplasmin and urinary copper (Wilson’s disease).
Management:
▪ Non-pharmacological: Physiotherapy (gait re-training), occupational therapy, speech and

language therapy (Lee Silverman Voice Treatment), inform the DVLA and insurer at diagnosis,
social care assessment may be required, parkinsons specialist nurse support.
▪ Medications: If admitted, ensure timing of medications maintained; early disease MAO-i,

dopamine agonist, levodopa, or amantadine; can later add in other medications including COMT
inhibitor if on levodopa. Monitor for complication including wearing off, on-off fluctuations,
dyskinesias, hallucinations and psychosis and compulsive behaviours. In advanced disease
further combinations can be trialled, or subcutaneous apomorphine.
▪ Surgical: Pallidotomy, thalamic surgery, deep brain stimulation.
*Example presentation: This patient presents with features of extrapyramidal dysfunction characterised
by rigidity, bradykinesia and tremor which I think is most likely idiopathic parkinson’s disease. This is
demonstrated by an expressionless face, reduced blink rate, monotonous voice, asymmetrical pill rolling
tremor worse on distraction, micrographia, cog-wheel and lead pipe rigidity, and a slow shuffling gait
which is slow to initiate with reduced arm swing and slow turn. There were no cerebellar signs or vertical
gaze palsies. My differential diagnosis in this situation includes idiopathic parkinsons disease, lewy body
dementia, vascular parkinsonism, secondary to mediations such as anti-psychotics and metoclopramide,
and inherited conditions such as Wilson’s disease. To complete my examination I would like to take a
history including performing an abbreviated mental test score, review the drug cardex, perform a lying
and standing blood pressure, and consider ophthalmological slit lamp review if the patient was young or
had a history of mental health disease or liver dysfunction. The NICE guidelines state that patients should
be referred, untreated, to a specialist to make the diagnosis and so I would facilitate this process. In that
clinic additional imaging may be requested to rule out the differentials such as a CT or MRI looking for
vascular disease, or single photon emission CT to distinguish between intention tremor and PD. I would
counsel her on the diagnosis and put her in touch with our Parkinson’s disease specialist nurse, during
the course of their illness they may require input from physiotherapy, occupational therapy, and speech
and language therapy, and if they drive the DVLA and their insurer should be informed at the time
of diagnosis although they would not necessarily need to stop driving. Should she wish, we could also
explore additional long term management options such as advanced care planning. Treatment comprises
dopamine agonists, levodopa, MAO-inhibitors, amantadine and COMT inhibitors, or even subcutaneous
infusions of apomorphine. They should be carefully monitored for side effects including end of dose
fluctuations, hallucinations, psychosis, dyskinesias and compulsive behaviours. If admitted to hospital,
medication timing should be carefully adhered to. A small number of patients are eligible for additional
surgical treatment such as deep brain stimulation.
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Stroke
Scenarios: Weakness, numbness, dysphagia, speech difficulty, visual loss.
Examining a stroke patient: Look carefully around the bed for walking aids, orthoses and splints and
then from the end of the bed note the presence of unilateral facial weakness which spares the forehead;
an adducted, flexed and pronated arm; and an extended, plantar flexed leg. Additional features that
may be present are NG tubes, PEG tubes, and if longstanding, wasting and contractures. When initially
speaking to the patient, listen carefully for slurring (cerebellar); hesitant and halting speech (expressive);
or fluent but incomprehensible speech (receptive). Ask the patient to walk and note if they circumduct
the affected leg when they walk. On examination search for increased tone (clasp-knife, clonus),
pyramidal weakness (arms: flexors stronger than extensors; legs: extensors stronger than flexors),
hypereflexia, upgoing plantars, and sensory loss on the affected side. If you have time at the end (or do
it when inspecting etc) have a quick look at the fingertips for diabetic finger prick testing marks and feel
the pulse briefly to asses if atrial fibrillation is present. If there are marked purpura, consider whether
this is a sign of warfarin use. If the signs are convincingly down to a stroke, say that to finish the
examination you would like to:
▪ Examine the lower limbs and cranial nerves (in order to localise the lesion and asses impact) and
perform fundoscopy (diabetic and hypertensive retinopathy).
▪ Examine the cardiovascular system (for murmurs and an irregular pulse) and request a blood
pressure (hypertension) and electrocardiogram (arrhythmias, LVH, ischaemia).
▪ Check the finger prick glucose and dipstick the urine for blood and protein (diabetes,
nephropathy).
Classic cases:
▪ Total anterior circulation stroke (TACS): Homonymous hemianopia (1), motor-sensory deficit
affecting 2/3 of face, arm and leg (2); accompanied by evidence of higher dysfunction
(dysphasia, neglect, asteroagnosis, reduced GCS) (3).
▪ Partial anterior circulation stroke (PACS): If only 2/3 of the above are present it is considered to
be a PACS (e.g.: dysphasia and motor sensory deficit).
▪ Posterior circulation stroke (POCS): Cranial nerve deficit with contralateral motor-sensory deficit,
conjugate eye movement disorder, bilateral motor-sensory deficit, cerebellar dysfunction, or
isolated homonymous hemianopia.
▪ Lacunar stroke (LACS): Produces discrete symptoms affecting 2/3 of face, arm or leg:
▪ Pure motor stroke.
▪ Pure sensory stroke.
▪ Sensori-motor stroke.
▪ Ataxic-hemiparesis.
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▪ Metabolic: Hypoglycaemia, hypercalcaemia.
▪ Intracranial: Tumour (benign or malignant), haematoma, demyelination, abscess, granuloma.
▪ Neurological: Todd’s paresis (post-ictal), hemiplegic migraine.
Investigations:
▪ Bedside tests: Blood pressure (hypertension), electrocardiogram (arrhythmias, LVH,

ischaemia), urine dipstick for protein and glucose (diabetic nephropathy, hypertensive
nephropathy).
▪ Bloods: U&Es (renal failure), fasting

glucose (diabetes), HbA1c (diabetes), lipids (hypercholesterolaemia).
▪ Imaging: Computed tomography of the head (acutely to identify haemorrhage that will impact
on immediate management strategy), magnetic resonance imaging of the brain with diffusion
weighted imaging (DWI; to confirm the location of the ischaemic event, gain some information
on acuity, search for other infarcts, rule out differentials – could use with gadolinium contrast to
assist in the latter), carotid dopplers (carotid artery stenosis that may warrant vascular surgery
intervention – only do this if it is an anterior circulation stroke, and the patient would be fit for
surgery), echocardiogram (valve disease, thrombus, right to left shunts including a patent
foramen ovale), chest radiograph (cardiomegaly, aspiration).
▪ Special tests: Ambulatory electrocardiograms (24-48 hour tape, event recorders etc to look for
arrhythmias), formal visual field assessment (may have implications on driving etc), if young or
atypical features screening should also include HIV, hepatitis, ANA, anti-dsDNA, ANCA, anti-
cardiolipin, homocysteine, thombophilia screen etc, MRA, MRV.
Treatment:
▪ Non-pharmacological: Education, highlight support groups, physiotherapy, occupational

therapy, speech and language therapy, social services assessment, DVLA considerations,
orthotics, optometrists.
▪ Medical: Acutely – once bleed excluded on CT head, if within 4.5 hours of symptom onset, NIHSS
score 4-25, no contraindications and consent given with a BP <185/110 the patient could receive
thrombolysis with alteplase, with repeat CT scan at 24 hours to rule out bleed and then move on
with aspirin then clopi; if not a thombolysis candidate give 300mg aspirin immediately (PO or
PR) for 2 weeks before converting to clopidogrel 75mg for life. If haemorrhage on CT scan
discuss with neurosurgeons. After the above measures in the A&E dept admit to a specialist
stroke unit, assess risk factors, and obtain an MDT assessment. Chronically – After 2 weeks
convert to clopidogrel, unless the patient has indications for warfarin (e.g.: atrial fibrillation). Do
not aggressively treat blood pressure in the first 2 weeks. Look at starting anti-hypertensives,
statins, diabetic medications etc.
▪ Surgical: Vascular surgery carotid endarterectomy, neurosurgical intervention for haemorrhagic

stroke.
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Questions:
1. What classification systems exist for acute stroke? Bamford System (this is the system used
above in the “classic cases” section).
2. Which Bamford system stroke carries the worst prognosis? A total anterior circulation stroke
(TACS) as this carries a high morbidity and mortality rate.
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Syringomyelia
Scenarios: Difficulty walking, numbness, difficulty feeling hot and cold, pain in the arms and shoulders,
neurological symptoms that worsen on coughing or straining.
Examination of syringomyelia:
▪ Inspection: Make a note of the patients speech at the introduction – dysarthria is suggestive of
bulbar involvement. Start by looking around the bed for wheelchairs and walking aids. There
may be evidence of a Horner’s syndrome (partial ptosis, anhidrosis, miosis). Deforming
arthropathy may be present due to Charcot joints, and clawing of the hands may be present, or
evidence of injuries including burns, callosities, and ulcers. There may be pes cavus if you track
down to the feet. On closer inspection of the arms there is wasting and fasciculation in the arms.
If you see this – sit the patient forward and inspect the spine for kyphosis, scoliosis, scars, or a
short webbed neck.
▪ Motor examination: Weakness and absent reflexes at the level of the syrinx if anterior horn cells
are involved, and there may be upper motor neurone signs below this level (increased tone,
brisk reflexes, upgoing plantars).
▪ Sensory examination: Shawl like pattern of pain and temperature loss over the shoulders and
upper limbs at the level of the syrinx, with normal proprioception and joint position sense (this
is called ‘dissociated sensory loss’); but this can be asymmetrical depending on the syrinx.
▪ On rare occasions when the syrinx extends into the dorsal columns, it usually causes loss
of proprioception and vibration sense in the feet to begin with.
▪ If you have time: Directed examination of the lower limbs (reflexes, clonus and plantars) and
cranial nerves (inspect the tongue for wasting and fasciculation, check for weakness of
sternomastoids and trapezius, try to elicit downbeat nystagmus, check for facial sensory loss).
▪ The presence of nystagmus means the syrinx is above C5.
▪ To complete my examination I would like to…
▪ Take a history enquiring about symptom onset and progression, and whether they
worsen with coughing or straining.
▪ Examine the neurological system of the lower limbs, cranial nerves, and perform
fundoscopy.
Classical cases:
▪ Klippel-Feil Syndrome: There is a short, webbed neck, and limited neck movement with a low
hairline.
▪ Other conditions which can caused mixed UMN and LMN, or mixed motor and sensory features
and should be considered are dual pathologies (e.g.: cervical myelopathy and peripheral
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neuropathy secondary to diabetes), motor neurone disease, congenital disorders (e.g:

Friedrich’s ataxia).
▪ The precipitant for a syrinx within the spinal cord could be:
▪ Congenital: Arnold Chiari I or II, Klippel-Feil Syndrome.
▪ Acquired: Following any of the following within the spinal cord – trauma, tumour,
infection, inflammation, bleed.
Investigations:
▪ Imaging: MRI brain and cervical cord (confirm the syrinx, look for causative lesions such as a
tumour or Arnold Chiari malformation).
Treatment:
▪ Non-pharmacological: Education, physiotherapy, occupational therapy, speech and language

therapy, orthotics, DVLA considerations, social services assessment.
▪ Medical: Analgesia for pain.
▪ Surgical: Shunt, laminectomy, or drainage of the syrinx; posterior fossa surgery including
decompression of the foramen magnum for Arnold Chiari malformations.
Questions:
1. What other conditions cause Charcot joints? Diabetes, tertiary syphilis (tabes dorsalis).
2. What is Klippel- Feil syndrome? A hereditary abnormality with absence or fusion of the cervical
vertebrae that can sometimes be associated with neurological abnormalities such as
syringomyelia, syringobulbia and subsequent Horner’s syndrome.
3. What are the complications of syringomyelia? From reduced mobility – thromboembolism,

pneumonia, pressure sores. From syrinx extension to medulla – respiratory failure. From
progressive myelopathy – paraplegia, quadriplegia, Horner’s syndrome, bowel and bladder
dysfunction.
4. Why does syringomyelia affect the spinothalamic tract as it’s earliest manifestation? Because
the spinothalamic tract is unique in that it decussates within the spinal cord, usually within a
couple of levels of entry. As a result, the crossing tracts are the first to be affected by the
expanding syrinx.
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Upper Limb Nerve Palsies

General features:
1. Look for scars, masses, bony deformities indicative of previous trauma, wasting.
2. Ask to arrange nerve conduction studies to confirm the location and consider imaging such as
MRI or musculoskeletal USS.
Erb’s Palsy (Upper Brachial Plexus injury; C5-C6):
▪ Inspection: Waiter’s tip position.
▪ Motor: Weakness of shoulder abduction, external rotation, and supination.
▪ Sensory: Occasionally reduced on the outer aspect of the arm.
▪ Reflexes: Absent biceps reflex.
▪ Cause: Shoulder dystocia, trauma.
Axillary Nerve Palsy (C5-C6):
▪ Inspection: Wasting of the deltoid muscle and teres minor causing “flat shoulder deformity”.
▪ Motor: Weakness of shoulder abduction beyond the initial 15 degrees
▪ Sensory: Regimental badge area on upper outer arm.
▪ Reflexes: Unaffected.
▪ Causes: Trauma, shoulder dislocation.
Radial Nerve Palsy (Motor C5-C8, Sensory T1):
▪ Inspection: Wrist drop.
▪ Motor: Weakness of elbow flexion and extension, wrist extension and finger extension.
▪ Sensory: Small area on dorsum of hand.
▪ Reflexes: Loss of triceps and supinator reflexes.
▪ Causes: Usually by trauma or compression – if triceps reflex affected from crutches in the axilla,
hanging your arm over the edge of a sofa, fracture/dislocations of the humeral head; if triceps
spared from fractures of the humeral shaft, muscle compression at the elbow; if only finger
extension affected by radial fractures, or muscular and soft tissue compression in the forearm.
Median Nerve Palsy (C6-T1):
▪ Inspection: Wasting of thenar eminence.
▪ Motor: Weakness of thumb abduction and opposition.
▪ Sensory: Loss of sensation over the lateral 3.5 fingers on the palmar aspect.
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▪ Special tests: Positive Phalen’s test, positive Tinel’s test.
▪ Cause: Carpal tunnel syndrome, pronator teres syndrome (pain in wrist and forearm and thenar
wasting) and anterior interosseous syndrome (difficulty moving index and middle fingers).
Causes of CTS include local trauma or compression from bony abnormalities, soft tissue
abnormalities, and fractures; systemic conditions causing fluid retention such as renal failure,
heart failure, liver failure, pregnancy, hypothyroidism; or causes of mono neuritis multiplex
including diabetes, vasculitis, autoimmunity, cryoglobulinaemia, paraproteinaemia and
amyloidosis, leprosy, HIV and lyme’s disease.
Ulnar Nerve Palsy:
▪ Inspection: Clawing of the medial two fingers and wasting of the dorsal interossei, hypothenar
eminence and along medial aspect of the forearm.
▪ Motor: Weakness of finger abduction and adduction, and thumb adduction.
▪ Sensory: Loss of sensation over the medial 1.5 fingers on the palmar aspect.
▪ Special tests: Positive Froment’s sign.
▪ Cause: Compression at the elbow in cubital tunnel syndrome (fracture/dislocation, leaning on

elbows, bony or soft tissue abnormalities), compression at the wrist (fracture/dislocation, bony
or soft tissue abnormalities, aneurysm), any causes of mononeuritis.
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Eyes
1. Can you see all of my face? If you are suspecting a stroke this may also be a good time to asses
for visual neglect.
2. Check visual acuity (eg: pocket snellen held at 2m – end of the bed) one eye at a time – ask them
to skip straight to the lowest line they can read.
3. Check accommodation reflex.
4. Use the ophthalmoscope to check pupillary light reflexes – direct, consensual, and swinging light
test.
5. Fundoscopy: I’m going to look into the back of your eyes using this bright light. All you need to
do is keep your eyes fixed on the same point over my shoulder. Blinking is absolutely fine, but
don’t move the eyes away from that point unless I ask you. If I move in front of that point, just
imagine you’re looking straight through me at it. The bright light can feel a little uncomfortable
but isn’t dangerous, and I will need to come very close to your face during the examination. I
may rest my hand on your forehead to steady myself as I do it if that is okay. If you would like me
to stop at any time please let me know. Do you have any questions about that? Now dim the
lights.
▪ Stand away from the patient, select the largest round yellow light on the fundoscope,
adjust it to your corrected acuity if needed (i.e.: red 2, if -2 on your glasses prescription),
hold your finger on that dial as when you move in you may need to adjust it further to
correct for the patient’s refractory error.
▪ Red reflex: Abnormalities suggest cataract, vitreous haemorrhage or intra-ocular mass.
▪ Disc: Move into the patient as if heading towards the opposite ear until you can see the
disc and comment on the cup, colour, contour.
▪ Vascular arcades: First look along each of them in turn, out to the periphery then back in
again.
▪ Peripheral retina: Then step away from the patient and ask them to look up and keep
looking up, go back in and look into the peripheries. Then repeat with looking
down, looking right and looking left.
6. Asses the visual fields.
7. Map their blind spot using a red hat pin.
8. Check eye movements and ask them to tell you if they get double vision at any time – if so,
cover each eye in turn to asses when the outer image disappears. First check pursuit by asking
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them to follow your finger, they do saccades by asking them to alternately look at your nose and
then the clicking fingers.
Dilated fundoscopy: Remember to warn the patient that they will not be able to drive for 6 hours
afterwards.
Central Retinal Artery Occlusion
Scenarios: Loss of vision, tunnel vision.
Questions to ask:
▪ When did the symptoms start, one eye or both eyes (monocular), did it come on suddenly (over
seconds), did it hurt (painless), how has it progressed since then, any previous
episodes (amaurosis fugax)?
▪ Any pain in the scalp, headaches, aching muscles, weakness of the muscles, difficulty rising from
a chair, pain in he jaw or mouth when eating, weight loss, fevers, night sweats?
▪ Any numbness, weakness, difficulty with speech, swallow or hearing?
▪ Any palpitations, shortness of breath, swollen ankles, breathless lying flat or waking up gasping
for breath?
▪ Any pain in the legs when you walk, how long does it take to develop, how far can you walk?
▪ Any other medical problems – specifically, high blood pressure, high cholesterol, diabetes,
angina, peripheral vascular disease, previous heart attack or stroke?
▪ Are you on any medications, any allergies?
▪ Any conditions that run in the family?
▪ Do you smoke, ever smoked, or take recreational drugs like cocaine?
▪ What do you do for a living, do you drive?
▪ Who’s at home with you, how is their health?
▪ Any particular worries or questions for me to answer?
Systems to examine:
▪ Ocular: Acuity (counting fingers), fields (central vision may be spared), blind spot, accomodation,
eye movements, pupillary light reflexes (relative afferent pupillary defect), fundoscopy (pale
retina, cherry red macula, thrombus may be visible, thin arterioles).
▪ Immune: Feel for tender and pulse less temporal arteries.
▪ Cardiovascular: Finger prick marks of diabetes, splinter haemorrhages, oslers nodes, janeway
lesions, irregularly irregular pulse, blood pressure measurement, auscultate the carotids, feel
the apex beat, auscultate the hear sounds.
Differentials to exclude:
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▪ Atheroembolic: Hypertension, diabetes, smoking, atrial fibrillation, valvular vegetations.
▪ Inflammatory: Giant cell arthritis, polyarteritis nodosa, SLE.
▪ Thrombophilia: Inherited (factor V Leiden, protein C deficiency etc) or acquired (anti-

phospholipid syndrome).
▪ Toxic: Cocaine.
Investigations:
▪ Bedside tests: Blood pressure (hypertension), electrocardiogram (atrial fibrillation, left

ventricular hypertrophy), urine dipstick (proteinuria, glycosuria), temperature (endocarditis).
▪ Bloods: ESR (elevated in GCA), lipid profile (hypercholesterolaemia), fasting glucose (diabetes).
▪ Imaging: Carotid dopplers (carotid artery stenosis on the ipsilateral side).
Management: Recognise that this is an ophthalmological emergency so the patient should be reviewed
by an ophthalmologist immediately (ie: same day).
▪ Non-pharmacological: If they’ve presented within 90 minutes apply firm ocular massage;

counsel on the diagnosis, refer urgently to ophthalmology, advise healthy lifestyle (smoking
cessation, weight loss, reduce alcohol intake, healthy diet, exercise); refer to low visual aid clinic
for advice on psychological support, aids, talking books, magnifiers, and ensure refractive errors
corrected.
▪ Medical: If GCA, start high dose steroids immediately (eg: 1mg/kg of prednisolone); optimise
cardiovascular risk profile and consider starting low dose aspirin.
▪ Surgical: Carotid endarterectomy.
Questions:
1. What are the complications of central retinal artery occlusion? Neovascularisation including
rubeotic glaucoma.
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Diabetic Retinopathy
Classification:
You will need to decide which stage of disease the patient is in:
▪ Background diabetic retinopathy: Dots, blots and hard exudates.
▪ Pre-proliferative diabetic retinopathy: Cotton wool spots, intra-retinal microvascular

abnormalitis (IRMAs), venous beading and looping.
▪ Proliferative diabetic retinopathy: New vessel formation at the disc and/or elsewhere.
And then comment on the presence or absence of:
▪ Maculopathy: Hard exudates, cotton wool spots, or haemorrhages within two disc diameters of
the macula.
▪ Cataracts: Senile cataracts develop at younger age, snow-flake (in young diabetics), reversible
osmotic (severe uncontrolled hyperglycaemia).
▪ Other abnormalities: Retinal detachment, intra-ocular haemorrhage, rubeosis iridis, optic

neuropathy, ocular muscle palsies, retinal vein occlusion, glaucoma.
If I’ve seen Diabetic Retinopathy: Look for diabetic finger prick marks, foot ulcers, and offer to examine
visual acuity and for peripheral neuopathy. Then request further investigations looking for other signs of
end organ damage:
▪ Blood pressure (typical target <130 systolic).
▪ ECG, and enquire about a past medical history of stroke or myocardial infarction.
▪ Urine dipstick for proteinuria, and sample sent for a urine protein:creatinine ratio.
▪ If young female, consider urine dipstick for pregnancy test (retinopathy typically progresses in
pregnancy).
▪ Baseline bloods including U&Es (renal function), fasting glucose (raised), HbA1c (typical target
45-58mmol/mol), and cholesterol (raised).
Management:
▪ Non-pharmacological: Smoking cessation, dietary modifications, weight loss, DVLA

considerations.
▪ Medical: Tight blood glucose control (ACE-i if tolerated), anti-hypertensives, cholesterol

lowering agents (statins +/- fibrate, ezetimibe); very rarely ophthalmology may utilise
intravitreal steroids or anti-VEGF agents.
▪ Surgical: Photocoagulation (focal or panretinal), vitrectomy if large bleed.
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Referral: Ophthalmologists will investigate the patient further using slit lamp and optical coherence
tomography (OCT; for macular oedema) and fluorescein angiography. Referral urgency dictated by
symptoms:
▪ Urgent (same day): Sudden visual loss, retinal detachment, pre-retinal/vitreous haemorrhage,
rubeosis iridis.
▪ Rapid (within 2 weeks): Proliferative retinopathy (so that laser treatment can be given, and thus
vitreous haemorrhage or a tractional retinal detachment can be prevented).
▪ Routine (within 13 weeks): Pre-proliferative or maculopathy.
Driving and diabetes:
The key factors to identify if a patient is asking about driving is:
▪ Group 1 or 2 driver.
▪ Presence of impaired vision due to diabetes, refractive errors or other eye disease; attendance
at retinopathy screening, previous treatment for retinopathy, most recent visit to an optician.
▪ Use of insulin or sulfonylureas.
▪ Hypoglycaemic attacks, how often, awareness of hypoglycaemia, need for someone else to help
them (eg: paramedics giving treatment, partner giving treatment because the could not do it
themselves).
▪ If they hold a group two licence, and are on insulin they need to have a glucometer with
memory function and be able to show you regular monitoring on their machine without
hypoglycaemia etc.
Triggers to inform the DVLA would include:
▪ Hypoglycaemia requiring assistance: Twice for group 1, once for group 2.
▪ Hypoglycaemic unawareness: May result in licence being revoked for group 1, will result in loss
of licence for group 2.
▪ Starting insulin for group 1.
▪ Starting any medical therapy for diabetes for group 2,
General advice:
▪ Check BM before driving if on insulin or sulphonylurea.
▪ Have a snack to hand.
▪ If you develop symptoms of hypoglycaemia, stop the car, pull over, take the keys out of the
ignition and get into the passenger side.
Questions:
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1. What are the side-effects of photocoagulation? Pain during the procedure, vitreous
haemorrhage may be precipitated, reduction in visual fields, transient macular oedema leading
to temporary increasing visual impairment.
2. How often should patients with diabetes be screened for retinopathy? Annually with dilated
retinal photography; screening should take place more regularly during pregnancy.
3. What are the risk factors for diabetic retinopathy? Longer duration of diabetes, hyperglycaemia,
pregnancy, hypertension and nephropathy.
4. How does the appearance of diabetic retinopathy differ from that of hypertensive
retinopathy? Hypertensive retinopathy is defined as stage 1 (copper and silver wiring, meaning
an increased light reflex of the vessels), stage 2 (AV nipping), stage 3 (cotton wool spots and
flame haemorrhages), stage 4 (optic disc swelling). Stage 3 or 4 should be considered a medical
emergency and the patient urgently assessed for other end organ damage (LVH, proteinuria,
encephalopathy), a possible underlying secondary cause (via the physical exam and initial
investigations) and initiated on treatment (IV nitroprusside, labetalol, nifedipine or if due to
phaeochromocytoma then with phentolamine)
Macular disease
Age related macular degeneration:
▪ Dry: Atrophy and drusen at the macula. Optimise refraction and refer to a low visual aid clinic
for advice, counselling, large print, talking tapes, magnifying glasses etc.
▪ Wet: Hameorrhage and drusen at the macula. Lines do not look straight at the centre of the
grid. Refer to ophthalmology where they will use anti- VEGF.
Macular scar:
▪ Differential diagnosis (ToRCHES): Toxoplasmosis, rubella, CMV, herpes, syphilis)
▪ Management: If acute – this is an emergency due to the risk of visual loss and encephalitis with
herpetic infections for example, so discuss with ID team ASAP.
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Optic Atrophy
Scenarios: Change in visual acuity or colour perception.
Examining optic atrophy: Look at the disc for its cup (there may be an increased cup-to-disc ratio if due
to glaucoma), colour (pale) and contour (clearly demarcated or blurred). Examine the remainder of the
retina for other abnormalities suggestive of a particular underlying cause, and ascertain if unilateral or
bilateral.
History:
1. Have you noticed any change in your vision, or in how you see colours? For example, do red
things look less red than they used to?
2. How quickly did the visual problems come on and have you experienced any pain in the eye?
3. Have you noticed any other problems – episodes of weakness, unsteadiness, headaches etc?
4. Do these symptoms get worse in the heat or do you get shooting pains down the back on flexing
your neck?
5. Have you had any eye problems in the past?
6. Are you on any medications – specifically any treatments for erectile dysfunction like viagra?
7. Does anyone in the family have any problems?
8. Do you smoke? Drink alcohol? Use recreational medications?
9. Any tattoos, blood transfusions, operations abroad; are you sexually active, casual or regular
partners, male or female?
If I see optic atrophy: Explain that you would like to examine for a relative afferent pupillary defect and
for red de-saturation using a red hat pin – both of which are features of optic neuritis. Assess for visual
field abnormalities like a central scotoma. Then examine eye movements looking for nystagmus or an
internuclear ophthalmoplegia (multiple sclerosis) and a lateral rectus/6th nerve palsy (raised intracranial
pressure), and look over the temporal artery for previous biopsy scar (temporal arteritis). Perform a
neurological examination of the remainder of the cranial nerves and upper and lower limbs, including a
cerebellar examination (multiple sclerosis, Friedreich’s ataxia).
Differential diagnosis: If unilateral and in the absence of obvious clinical features of another condition
the common differentials to give would be optic neuritis due to a demyelinating disease, ischaemic optic
neuropathy (arteritic or non-arteritic), optic nerve trauma, or optic nerve compression by an intracranial
mass.
▪ Congenital: Tay-Sachs, Retinitis Pigmentosa, Leber’s optic neuropathy, Friedreich’s ataxia.
▪ Optic nerve: Glaucoma, previous optic neuritis/papilloedema/AION, compression by

tumor/aneurysm/Pagets disease of the bone, trauma.
▪ Retina: Central retinal artery occlusion.
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▪ Systemic: Toxic (alcohol, tobacco, isoniazid, glue sniffing), metabolic (B12 deficiency).
Investigations: Depends on the underlying cause.
▪ Bedside tests: Blood pressure (hypertension), urine dipstick (protein, glucose, blood).
▪ Bloods: FBC, ESR, CRP (inflammatory markers), B12 (deficiency), bone profile and ALP (if you
suspect Paget’s), ACE, ANA, anti-phospholipid antibodies (immune causes).
▪ Imaging: MRI or CT plus contrast if intracranial lesion suspected.
▪ Special tests: Visual evoked potentials (slowed conduction in demyelinating disease).
Questions:
1. What is Foster-Kennedy syndrome? Intracranial tumour which directly compresses the optic
nerve on one side whilst causing raised intracranial pressure resulting in a swollen optic disc on
the other side.
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Optic Disc Swelling

Scenarios: Headache, dimming of vision, tunnel vision, painful eye.
Examination of papilloedema: Look at the cup, colour (may be pale) and contour (blurred margin). Note
if there are spontaneous venous pulsations (if present, raised intracranial pressure is unlikely). Asses if it
is unilateral or bilateral and if there are additional changes at the retina.
History:
1. Have you experienced any headaches?
2. If yes – Are they worse on wakening, bending down, coughing, or straining? Is there associated
nausea, vomiting, weakness, numbness, fits or funny turns? Is there associated scalp tenderness,
pain on chewing food, or painful muscles?
3. Have you experienced any changes in your vision?
4. Have you ever had a blood clot in your legs or lungs or has anyone in the family?
5. Are you on the oral contraceptive pill?
If I’ve seen papilloedema: You should take a history, offer to examine the cranial nerves and upper and
lower limbs, in particular looking at visual acuity (can be reduced), blind spot (can be increased), and
visual fields (tunnel vision); and obtain a set of basic observations including heart rate, blood pressure
and temperature.
▪ Raised intracranial pressure (“papilloedema”): Absent spontaneous venous pulsations, normal

visual acuity until late. Idiopathic intracranial hypertension, intracranial tumours (primary or
secondary, benign or malignant, and solid organ or haematological), intracranial infections
(abscesses, cysts, encephalitis, meningitis), intracranial granulomas (tuberculosis, sarcoidosis),
intracranial haemorrhage or oedema, venous sinus thrombosis (pregnancy, pill, dehydration,
congenital or acquired thrombophilias).
▪ Optic neuritis: Reduction in visual acuity, aching eye worse on moving the eye.
▪ Anterior ischaemic optic neuropathy: Reduction in visual acuity.
▪ Arteritic: Giant cell arteritis.
▪ Non-arteritic: Diabetes, hypertension, raised cholesterol.
▪ Hypertensive retinopathy: Typically acute in onset with associated haemorrhages, AV nipping.
▪ Underlying metabolic issue: Hypercapnoea, hypocalcaemia, Graves’s disease, hypervitaminosis

A.
Investigations:
▪ Bedside tests: Urine dipstick (pregnancy testing in a young woman).
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▪ Bloods: Depends on the history – but an urgent ESR if GCA suspected.
▪ Imaging: CT or MRI head/orbits +/- venography and contrast (mass lesions, venous sinus
thrombosis, midline shift).
Management:
Depends on the underlying cause. For example in someone with idiopathic intracranial hypertension you
should remove the precipitating cause if there is one, advise weight loss, offer analgesia, consider
acetazolamide, steroids, optic nerve sheath fenestration, or ventriculoperitoneal shunt procedures.
Questions:
1. What is Foster-Kennedy syndrome? Unilateral optic swelling, with contralateral optic atrophy
(pale disc), due to an intracranial tumour such as an olfactory groove meningioma on the side of
the pale disc. As the tumour enlarges it begins to cause raised intracranial pressure and thus
papilloedema.
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Pupillary Abnormalities
Scenarios: Asymmetrical eyes, change in facial appearance.
Holmes Adie Pupil: Also called a “myotonic pupil”. The affected eye shows mydriasis (dilated pupil)
which responds sluggishly to light and accommodation. Typically seen in otherwise healthy young
women who may also have absent or diminished knee and ankle reflexes. Re-assure them.
Argyll Robertson Pupil: The affected eye (or both eyes) shows a small, irregular pupil which
accommodates but does not react to light (light-near dissociation); the iris may also show
depigmentation. Seen in neurosyphillis and diabetes so offer testing for both these diagnoses and check
for tabes dorsalis (absent ankle jerk, upgoing plantar) and diabetes (finger prick testing marks,
peripheral neuropathy, insulin injection site marks on abdomen or insulin pump in-situ). Ask for syphilis
serology – non-treponemal like VDRL/RPR (may be negative in these patients), and treponemal like
TPHA/EIA (will be positive); and then proceed to perform a lumbar puncture for VDRL (confirmatory if
positive but can get false negatives) and TPHA (suggestive if positive but you do get false positives).
Relative Afferent Pupillary Defect: Also called a “Marcus Gunn Pupil”. When you perform the swinging
light test you should be swinging between both eyes rapidly so that via the direct and consensual light
reflexes both pupils are repeatedly constricting. However, if the light is not being adequately
transmitted on one side, as you swing onto the affected eye the direct reflex is weaker than the
consensual reflex from the contralateral side and the pupil will dilate in response to reduced light being
shone onto the contralateral eye. It is is caused by asymmetrical defects and by definition can only be
unilateral. It is usually secondary to optic nerve disease such as neuritis, compression or atrophy, retinal
vein or artery occlusions, and optic tract lesions (usually on the side with temporal visual loss, ie:
contralateral to the side of the lesion). As such the next step is to perform fundoscopy looking for pale
or swollen optic discs; in addition to visual acuity which is commonly reduced. Reduced visual acuity
with an RAPD in a patient over 50 should be considered GCA until proven otherwise, and investigated
urgently in order to consider steroids.
Retinal Vein Occlusion (Branch or Central)
Scenarios: Sudden painless loss of vision.
Examining Retinal Vein Occlusion:
▪ Central retinal vein occlusion: Optic disc swelling, widespread flame shaped haemorrhages,
tortuous and dilated veins, with cotton wool spots.
▪ Branch retinal vein occlusion: One vascular arcade affected by the changes, distal to an
arteriovenous crossing.
▪ Hemi-retinal vein occlusion: A proximal enough defect that both the temporal and nasal arcade
is knocked off giving loss of either superior or inferior field of vision.
▪ Key negatives: Given the complications mention the absence of rubeosis iridis, vitreous
haemorrhage or signs of fibrosis and tractional retinal detachments secondary to new vessel
formation. Given the association with hypertension note if there are other features of
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hypertensive retinopathy such as AV nipping, increased light reflex of the vessels (copper or
silver wiring), hard exudates, cotton wool spots and dot/blot haemorrhages.
History:
1. When did you notice a change in your vision?
2. Did you have any problems with your eyes before this, or have you ever been seen by an
ophthalmologist?
3. Do you have any other medical problems?
If I see Retinal Vein Occlusion: Assess for an RAPD, visual acuity and visual fields. There may be a
general reduction in acuity or a sectoral loss. Note if patient appears plethoric, and if so offer to examine
for splenomegaly (polycythaemia rubra vera). Look for mucosal bleeding such as crusted blood at the
nostrils or bleeding from the gums (hyperviscosity syndrome of Waldenstroms).
▪ Glaucoma.
▪ Vascular: Atherosclerosis (hypertension, diabetes, raised cholesterol, smoking), vasculitis.
▪ Haematological: Waldenstrom’s macroglobulinaemia, multiple myeloma, polycythaemia rubra

vera, sickle cell anaemia, thrombophilias (congenital and acquired).
Investigations:
▪ Bedside: Blood pressure (hypertension), finger prick glucose (diabetes), urine dipstick (glycosuria
and proteinuria in diabetes, proteinuria and haematuria in vasculitis).
▪ Bloods: FBC (polycythaemia, anaemia), fasting

glucose (diabetes), lipids (hypercholesterolaemia), ESR (raised), plasma
viscosity (hyperviscosity), blood film (polycythaemia, roleaux, sickle cell), clotting
screen (abnormalities suggestive of thrombophilias), and consider the need for special tests
based on the above and history (i.e.: myeloma screen, anti-phospholipid antibodies, ANA,
ANCA).
Management: This warrants urgent ophthalmological assessment.
▪ Medical: Treat the underlying cause; ophthalmology will review patient for consideration of
intra-vitreal anti-VEGF (lucentis) and intra-vitreal steroids.
▪ Surgical/interventional: Laser, vitrectomy.
Questions:
1. What complications can develop in individuals with CRVO? New vessel formation with
subsequent vitreous haemorrhage, tractional retinal detachment, rubeiosis iridis with angle
closure glaucoma.
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Retinitis Pigmentosa
Scenarios: Bumping into things (meaning there are problems with peripheral vision), poor vision at
night.
Examination:
1. Visual acuity: Often reduced.
2. Visual fields: Peripheral visual loss causing tunnel vision.
3. Fundoscopy: Pale optic disc (optic atrophy), pale retina, attenuated blood vessels, bone spicule
pigmentation (crosses blood vessels unlike laser).
History:
1. Do you have particular difficulty seeing at night?
2. Do you have any problems with your hearing?
3. Do you have any problems with your heart?
4. Does anyone else in your family have similar problems with their vision? The most common
inheritance pattern is AR, but AD and X-linked are also recognised.
If I’ve seen retinitis pigmentosa…..
1. Hands and skin: sclerodactyly or scar indicating finger amputation (Laurence Moon Bardet Biedl
Syndrome), icthyosis (Refsum).
2. Ears: hearing aids (Usher, Refsum, Kearn’s Sayre Syndrome) – also look for a white stick with red
stripes.
3. Chest: pacemaker, ICD, and request an ECG (Kearn’s Sayre Syndrome).
4. Neurological examination: ataxia (Refsum, abetalipoproteinaemia, Kearn’s Sayre Syndrome),

peripheral neuropathy (Refsum).
As such, if you suspect it perform a full ocular examination including acuity, fields, blind spot,
accomodation, eye movements, pupillary responses and fundoscopy; they ask to look at the hands, skin,
round the back of the ears, and onto the chest, auscultate the heart sounds and ask them to walk.
Management: Ensure they are known to opthalmology and genetic counselling has been offered. In
addition to a general ophthalmological evaluation they should undergo an electroretinogram which
measures rod and cone function. Consider amendments that may make ADLs easier such as a white
stick, guide dogs, and preparation for further visual loss. Referral to a low visual aid clinic can be useful
to arrange some of these and provide adaptations. The patient should inform the DVLA who will want to
assess them prior to deciding on whether they can drive. Medical treatments such as dietary
modification work in a small number of cases (eg: high vitamin A intake in abetalipoproteinaemia), but
other treatments available such as antioxidants are not supported by research evidence.
Questions:
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1. What is the pattern of inheritance? Variable – can be AD, AR or X-linked.
2. What is the natural history of the disease? Progressive visual loss starting in childhood, with
most patients experiencing complete loss of vision during adulthood (although when this occurs
is variable).
3. What is the differential diagnosis of peripheral visual loss? Retinitis pigmentosa, glaucoma, optic
disc swelling, pituitary tumour and other chiasmal lesions, stroke, retinal artery occlusion and
ischaemic optic neuropathy.
4. What is Refsum’s disease? Autosomal recessive fatty acid oxidation defect with high levels of
phytanic acid which causes retinitis pigmentosa, ataxia, peripheral neuropathy with pes cavus
and icthyosis.
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Respiratory
1. Inspection around the bed: Oxygen, inhalers (suggestive of some form of obstructive airways
disease – e.g.: tiotropium highly suggestive of COPD), spacers, nebulisers, sputum pots, peak
flow meters, antibiotics, steroids.
2. Inspection of the patient: Can you take a deep breath in for me? Look generally for symmetry of
breathing and depth of inspiration, then for cachexia and cushingoid features. A very
protuberant abdomen and abnormal posture may indicate ankylosing spondylitis. Can you take
a big cough for me? Helps identify if the examination will cause the patient any pain.
3. Hands: Can you hold your hands out straight for me like this? Whilst in that position look for
clubbing, cyanosis, tar staining, wasting of the intrinsic muscles of the hands, thin skin and easy
bruising. Look for joint deformities, gottrons papules, mechanic hands, nail fold vasculitis,
photosensitive skin rash. Can you now hold your wrists back like this? Palmar erythema.
4. Arms: Palpate the wrists for tenderness of HPOA. If you’ve seen rheumatoid hand changes
check for nodules on the extensor aspects. Take a pulse whilst counting the respiratory rate.
5. Eyes: Miosis (pupillary constriction), partial ptosis.
6. Face: Anhidrosis, lupus pernio (bluish-red, dusky purple nodules and plaques, often on nose and
cheeks), lupus vulgaris (apple-jelly nodules, often scar and ulcerate, tender, on the face), facial
swelling of SVCO obstruction.
7. Mouth: Central cyanosis, microstomia.
8. Neck: Look to the side for me. JVP (large CV waves of TR or fixed and raised in SVCO). I’m just
going to feel for your windpipe, this may feel a little uncomfortable. Check it’s central. Can you
sit forward for me? I just want to feel the glands in your neck and examine your back. Palpate
the lymph nodes.
9. Inspect the back: Scars.
10. Palpate the back of the chest: I’m going to circle my hands around your chest, take a deep
breath in for me? Do this in three locations along the back checking for symmetry. Sacral
oedema.
11. Percuss the back of the chest: Resonant, dull or stony dull.
12. Auscultation of the lungs posteriorly: Listen for the inspiration and expiration, if symmetrical, if
similar throughout the lungs from apices to bases, listen for additional noises such as wheeze,
crepitations and bronchial breathing or if simply vesicular; if abnormal sounds head, request
patient to cough and listen again. Then, Each time I place the stethoscope on your chest can you
say 99 for me? To asses if vocal resonance is normal, increased, or decreased.
13. Inspect the front of the chest: Pectus carinatum, pectus excavatum, dilated veins over the arms,
neck and upper chest, scars (i.e.: mediastinoscopy scar, phrenic nerve crush).
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14. Palpate anterior chest: Feel for a parasternal heave and palpable thrill overlying the 2nd left
intercostal space, then asses chest expansion.
15. Percuss anterior chest: Resonant, dull, or stony dull and specifically note if normal dullness over
liver and heart present.
16. Auscultate anterior chest: At P and T area to asses if loud second heart sound or any murmur
of PR/TR then as above – normal breath sounds first, then doing “99”.
17. Examine the legs: DVT, erythema nodosum, peripheral oedema.
18. Complete the examination:
1. Take a full history and complete examination.
2. Review the drug chart and observation chart.
3. Check sputum pots and peak flow readings if available.
4. Examine the axillary lymph nodes if cervical nodes present.
Grades of clubbing:
▪ Grade 1: Increased fluctuation of the nail bed.
▪ Grade 2: Loss of the angle between the nail and nail bed.
▪ Grade 3: Drumstick appearance of the fingers.
▪ Grade 4: Bony changes also affecting the wrists and ankles.
Causes of clubbing:
▪ Congenital/idiopathic
▪ Supparative lung diseases: Empyema, abscess, cystic fibrosis, bronchiectasis.
▪ Other lung disease: Bronchial carcinoma, mesothelioma, fibrosis.
▪ Cardiac: Eisenmenger’s syndrome, infective endocarditis, atrial myxoma.
▪ Gastrointestinal: Inflammatory bowel disease, primary biliary cirrhosis.
▪ Pseudoclubbing: Thyroid acropachy.
Different inhalers:
▪ Aerosol MDI: The usual L-shaped ones that people are often prescribed first and can be used
with spacers (i.e.: salbutamol blue L shape).
▪ Breath actuated inhaler: Also L-shaped but with a little dip down at the end of it (i.e.:
Autohaler) usually with a lever to click up or cap to flick open (i.e.: Easibreathe).
▪ Accuhaler: Breath activated like the above, but contain a dry powder and are typically round in
shape.
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Bronchiectasis
Possible scenarios: Fatigue, shortness of breath, difficulty in breathing, reduced exercise tolerance,
productive cough.
Examining bronchiectasis: Look for and examine sputum pots (which may include haemoptysis),
clubbing of the fingers (not always present), get the patient to cough on hearing crackles as the
character should change and there may be an associated wheeze. The crackles can occur at any point in
the respiratory cycle. Sometimes inspiratory clicks and crackles can be heard with the unaided ear. You
need to ask yourself four questions…
▪ Which part of the lung is affected?
▪ Is there a possible underlying cause identified examining peripherally?
▪ Are there any signs of treatment such as steroids or long term antibiotics? A line in the arm is
likely a PICC line, a line under the clavicle is likely a Hickmann line, and these may have buttoned
endings called ports at their ends.
▪ Are there any signs of complications such as cor pulmonale?
Classic cases:
1. Rheumatoid arthritis: Symmetrical deforming polyarthropathy mainly affecting the small joints
of the hands which spares the distal interphalangeal joints (DIPJs) and is associated with ulnar
presence of infection, urine dip for proteinuria.
2. Cystic fibrosis: Slim and short, pale, diabetic finger prick marks, clubbing, scars from previous or
current long lines for antibiotics. Offer the resp investigations but also sweat test for sweat
sodium and chloride >60mmol/L, faecal elastase, abdo USS for liver, CT sinuses, DEXA scans,
family counselling and testing.
3. Kartagener’s Syndrome: Slim and short, pale, clubbing, scars from previous or current long lines
for antibiotics; dextrocardia clinches the diagnosis (think about this when you’ve decided in your
head that this might be bronchiectasis and you’re checking for chest expansion – can you feel
the apex beat on the right side?). If dextrocardia is found then proceed to percuss and palpate
for liver dullness on the left which would indicate situs inversus.
4. Yellow nail syndrome: Yellow, slow growing nails with some degree of onycholysis and very
curved, and features of a pleural effusion or bronchiectasis on the chest, and lymphoedema
elsewhere.
Associated signs:
1. Cor pulmonale: Raised JVP, left parasternal/right ventricular heave, loud P2, split second heart
sound, peripheral oedema.
2. Respiratory failure: Flap of outstretched hands, drowsy, cyanosed.
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3. Infection: Antibiotics, fever, bronchial breathing.
4. Scars: Chest drains for empyema.
Congenital or acquired.
▪ Idiopathic.
▪ Inherited: Cystic fibrosis, Kartagener’s syndrome, primary ciliary dyskinesia, yellow nail
syndrome.
▪ Infection: Tuberculosis, aspiration, childhood infections including measles and pertussis.
▪ Post-obstruction: Foreign body aspiration.
▪ Hypersensitivity: ABPA, rheumatoid arthritis, inflammatory bowel disease associated.
▪ Immunodeficiency: Hypogammaglobulinaemia, AIDS.
Differential of clubbing with coarse crackles includes malignancy, supparative lung infections, and
pulmonary fibrosis with co-existent infection.
▪ Bedside tests: PEFR, ECG (right heart strain), ABG (hypoxia, respiratory failure, acidosis), obtain
a sputum sample (send for MCS and AFBs; cytology to r/o a neoplastic process), urine
dipstick (for proteinuria suggestive of amyloidosis).
▪ Bloods: FBC (anaemia, polycythaemia, high white cell counts), CRP/ESR (markers of
inflammation), immunoglobulins including total IgE (immunodeficiency, ABPA), aspergillus
serology and functional antibody tests to tetanus, pneumococcus and haemophilus (functional
immunodeficiency); if under 40 with upper lobe bronchiectasis and no cause found test for CF
with sweat test and genetic screening. Consider special tests such as autoimmune
screen including ANA, RF, and ACE.
▪ Imaging: CXR (tramlines, ring shadows), high resolution CT (signet ring sign, localised or
generalised).
▪ Special tests: Spirometry (often obstructive, normal or mixed pattern), bronchoscopy (to obtain
microbiological or tissue specimens, exclude obstructive lesion if localised).
Referral:
Probably respiratory, consider if inpatient assessment is required.
Management:
▪ Conservative: Smoking cessation, postural drainage (assisted by mucolytics and nebulised

saline), active cycle breathing, pneumococcal and annual influenza vaccinations.
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▪ Medical: Treat intercurrent infections, treat colonising infections (nebulised, oral or parenteral),
inhalers, anti-inflammatories (3 times a week azithromycin), LTOT.
▪ Surgical: Drainage or removal of localised bronchiectasis or abscess, bronchial artery

embolisation if massive haemoptysis.
Questions:
1. What is bronchiectasis? A permanent, pathological dilatation of the bronchi and bronchioles.
2. What are the complications of bronchiectasis? Infective exacerbations, empyemas, abscesses,

cerebral abcesses, pneumothoraces, cor pulmonale, and amyloidosis.
3. What infections are seen in patients with bronchiectasis? Staphylococcus aureus, haemophilus
influenzae, pseudomonas, pneumococcus, klebseilla, aspergillus.
4. What is the mode of inheritance of Kartagener’s Syndrome? Autosomal recessive – KS

encompasses dextrocardia, situs inversus, bronchiectasis and sinusitis with primary ciliary
dyskinesia.
*Example presentation: My presumed diagnosis in this young female is bronchiectasis as evidenced by

the presence of clubbing and coarse inspiratory and expiratory crepitations that alter with coughing and
are associated with inspiratory clicks. She is slim and has what looks like a Hickman line in situ. I think the
most likely diagnosis is Cystic Fibrosis or Primary Ciliary Dyskinesia but my differential diagnosis is
idiopathic, infection related including childhood infections and tuberculosis, hypersensitivity related such
as ABPA, rheumatoid and inflammatory bowel disease associated, and immune deficiency states such as
hypogammaglobulinaemia and HIV. There is no evidence of respiratory failure or cor pulmonale on
examination today and she is not Cushingoid. To investigate further I would like to take a history, get a
full set of bedside observations, examine the sputum pots and send them for MCS and cytology, and
request spirometry to look for a restrictive or obstructive lung defect wit reduced gas transfer. On her
blood tests I would be particularly interested in her autoimmune screen, viral screen, immunoglobulins
and functional antibody tests to tetanus, pneumococcus and haemophilus, and consider sweat testing
for CF. The imaging modality of choice would be a high resolution CT scan of the chest for signet ring sign
and airway dilatation. She may require bronchoalveolar lavage or biopsy. I would counsel the patient on
the diagnosis and signpost to appropriate support groups, advise smoking cessation, pneumococcal and
influenza vaccination, and refer to respiratory physiotherapy for advice on postural drainage and active
cycle breathing. I would treat any underlying diseases, offer inhalers and anti-inflammatories, treat
intercurrent or colonising infections, and consider the need for long term oxygen therapy. Some patients
are eligible for single or double lung or combined lung-heart transplants.
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Chronic Obstructive Airways Disease

cough, sputum production.
Examining COPD:
1. Inspection: Note the presence of inhalers, nebulisers, oxygen and cigarettes around the bed.
Look at the fingers for tar staining. Check if the patient is showing signs of respiratory failure
including cyanosis, respiratory flap and bounding pulses or features of respiratory distress
with pursed lip breathing, nasal flaring, or intercostal recession. They may have a tracheal tug
(downward movement of the trachea in inspiration). Look for signs of steroid use.
2. Palpation: Feel for the suprasternal notch to cricoid distance which should be about 3cm/3
finger breadths but can be reduced in hyper expansion; and reduced chest expansion.
3. Percussion: Loss of normal heart and liver dullness due to hyper expansion, the chest may be
hyper-resonant.
4. Auscultation: Polyphonic expiratory wheeze, prolonged expiratory phase.
Classic cases:
1. Alpha-1-anti-trypsin deficiency: Young patient, non-smoker, family history of

emphysema/bronchitis (autosomal dominant), icteric with hepatomegaly, predominantly lower
lobe, panacinar emphysema (vs smoking where it is centrilobular-panacinar).
2. Coal workers pneumoconiosis: Coal workers tattoos due to pigmentation within scars and at
sites of abrasions, centrilobular emphysema.
Associated signs:
1. Actively smoking: Tar staining, odour of cigarettes, cigarettes at bedside.
2. Steroid use: Purpura, cushingoid appearance, proximal myopathy.
6. Malignancy: Cachexia, lymphadenopathy, monophonic wheeze etc.
Cardiac failure with pulmonary oedema, extrinsic allergic alveolitis, interstitial lung disease.
▪ Bedside tests: PEFR, ECG (right heart strain), ABG (hypoxia, hypercapnia, acidosis), sputum
sample (for MCS and culture).
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inflammation and infection) and consider special tests such as alpha-1-anti-trypsin level (if early
onset, minimal smoking or family history).
▪ Imaging: Chest radiograph (hyperexpansion, bullae, r/o co-existing infection, pneumothorax or

neoplastic process), CT thorax (pre-surgery, if severity of symptoms not explained by severity of
COPD on spirometry), ECHO (to assess for cor pulmonale).
▪ Special tests: Spirometry (obstructive defect with FEV1:FVC <70%, % FEV1 stratifies severity for
treatment into >70% mild, 50-70% moderate, 30-50% severe, <30% very severe), serial home
PEFR (to confirm no asthma).
Referral:
To respiratory, consider if inpatient assessment is required, may require palliative care or smoking
cessation referrals, community respiratory nurses.
Management:
▪ Conservative: Smoking cessation (NRT, buproprion, varenicline), advise pneumococcal and

annual influenza vaccination in addition to routine vaccinations of childhood, pulmonary
rehabilitation, respiratory physiotherapy (active cycle breathing), inhaler technique and consider
spacer, address co-morbidities including depression, dietician (BMI <20 or >25).
▪ Medical: SABA, SAMA, LABA, LAMA, combination therapy with steroid if FEV1 <50% or not
symptomatically controlled by the former, nebulisers, oral slow release theophylline, mucolytic
therapy, home O2 for at least 15 hours a day (if x2 ABG, >3 weeks apart, when well, show PO2
<7.3 or 7.3-8 but with complications such as pulmonary hypertension, polycythaemia, nocturnal
hypoxaemia, peripheral oedema), diuretics for cor pulmonale.
▪ Surgical: Bullectomy, lung volume reduction surgery, lung transplant.
Possible questions:
1. What is the MRC dyspnoea scale? 1-5 from 1 of no symptoms of breathlessness except on
strenuous exercise to 5 too breathless to leave the house or breathless even when
dressing/undressing.
2. What medications are known to interact with theophyllines and thus increase the chance of
toxicity? Macrolide and quinolone antibiotics – the dose of the theophylline should be reduced
and the patient monitored for signs of toxicity.
3. What else may trigger theophylline toxicity? Smoking cessation.
4. What are the signs of theophylline toxicity? Tremor, nausea, vomiting, diarrhoea, confusion,
dizziness, seizures, cardiac arrythmias.
5. What metabolic abnormalities develop in theophylline toxicity? Hypokalemia,

hypophosphatemia, hypercalcaemia, hyperglycaemia, and acidosis.
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Lung Cancer
Scenarios: Weight loss, cough, haemoptysis, chest pain, palpable lumps, hoarse voice, weakness.
Possible examination findings: When examining remember that there may be a dual diagnosis – for
example, it is not unusual to find features consistent with COPD in patient’s with lung cancer due to the
association with smoking.
▪ Inspection: Cachetic with hoarse voice, clubbing, tar staining, hypertrophic pulmonary
osteoarthropathy, wasting of the small muscles of the hand, miosis/ptosis/anhidrosis (Horner’s
syndrome), conjunctival pallor, mediastinoscopy scar, pleural drain and VATS scars, thoracotomy
scar, tattoo radiation marks, dilated and congested veins on anterior chest wall and face.
▪ Palpation: Reduced chest expansion related to pleural effusion, large mass, collapse, lobectomy,
pneumonectomy; trachea may be deviated away (paratracheal mass, large effusion) or towards
(collapse, pneumonectomy) the lesion.
▪ Percussion: Reduced percussion note for reasons as above.
▪ Auscultation: Crackles, monophonic wheeze, reduced air entry – very variable depending on
site, treatment, stage etc.
▪ To complete my examination I would like to…
▪ Know the oxygen saturations and temperature.
▪ Measure a peak expiratory flow.
▪ Examine the sputum pots.
▪ Examine for any features of extra-pulmonary involvement by palpating the spine and
liver, and performing a neurological examination of the arms, legs and cranial nerves.
Differential diagnosis: Similar clinical signs could potentially be explained by bronchiectasis and
infection (including pneumonia, lung abscess and tuberculosis).
▪ Small cell lung cancer.
▪ Non-small lung cancer: Presence of surgical scars suggests non-small cell cancer over small cell.
▪ Squamous.
▪ Adeno.
▪ Large cell.
▪ Bronchoalveolar.
Investigations:
▪ Bedside tests: Arterial blood gas (hypoxia), sputum (MCS and cytology), pleural tap (LDH,
protein, cytology, MCS).
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▪ Bloods: FBC (anaemia), bone profile (hypercalcaemia of bone infiltration or

paraneoplastic), LFTs (liver metastases), U&Es (hyponatremia of SIADH, hypokalemia of ectopic
ACTH secretion).
▪ Imaging: Chest radiograph (mass, effusion, collapse), computed tomography of the chest +
abdomen + pelvis (staging).
▪ Special tests: Biopsy (lymph node, via bronchoscopy or mediastinoscopy or VATS or

percutaneous needle), spirometry (to asses fitness for surgery).
Treatment:
▪ Non-pharmacological: Break the diagnosis (or possibility of it) sensitively, involve lung cancer
nurse specialist, sign-post to groups like Macmillan, consider if advanced care planning and
referral to palliative care teams is required.
▪ Medical: Chemotherapy, radiotherapy, oxygen therapy.
▪ Surgical: Wedge resection, lobectomy, pneumonectomy.
Questions:
1. What are the typical features of squamous cell lung cancer? Central, cavitating lesion, often in
individuals who smoke (or have in the past), common paraneoplastic syndromes include
hypercalcaemia (ectopic PTH) and hyperthyroidism (ectopic TSH).
2. What are the typical features of adenocarcinoma? Peripheral, solid lesion, often in individuals
who have never smoked, also seen in association with asbestos exposure.
3. What are the typical features of bronchoalveolar carcinoma? Production of copious sputum.
4. What are the typical features of small cell lung cancers? Derived from endocrine cells (Kulchitsky
cells) so paraneoplastic phenomena are common and include – SIADH, ectopic ACTH and
Lambert-Eaton myasthenia syndrome; metastasises early so that whilst being chemosensitive it
is rarely operable or curable.
5. How would you a manage a patient that presented with SVCO? I would take a history and
examine with a focus on ABCDE and seeking out the underlying cause – managing the patient
sitting upright and with oxygen to maintain saturations. The differential diagnosis including
intraluminal issues (thrombosis +/- intraluminal device), or external compression (typically by a
right sided lung cancer; but also by enlarged lymph nodes secondary to lymphoma and germ cell
tumour, infection, or solid organ metastases; and aortic aneurysms). If there is compromise
(e.g.: cerebral oedema, laryngeal oedema), the patient can be given urgent treatment (e.g.:
dexamethasone). If the cause is unclear and no compromise is identified, the priority should be
urgent imaging with CT thorax and obtaining a tissue sample, as steroids and radiotherapy can
reduce diagnostic accuracy. Treatment options then include steroids, anti-coagulation,
chemotherapy for chemosensitive tumours (e.g.: small cell lung cancer), radiotherapy,
or stenting.
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6. What are the risk factors for lung cancer? Smoking, occupational exposures (asbestos,
beryllium), exposure to radioactivity (uranium mining), and pulmonary fibrosis.
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Lung Surgery
Examining a lobectomy:
▪ Inspection: Lateral thoracotomy scar, ribs/clavicle may be pulled in over the site of surgery.
▪ Palpation: Trachea central (occasionally deviated in upper lobectomies), apex beat may or may
not be displaced.
▪ Percussion: May be dull over the area excised, but there may also be compensatory
hyperinflation giving an increased resonance to the remainder of the lung on that side.
▪ Auscultation: Reduced AE at area removed, but compensatory hyperinflation may minimise this.
Examining a pneumonectomy:
▪ Inspection: Lateral thoracotomy scar, flattening of the chest on the operated side.
▪ Palpation: Trachea deviated towards the pneumonectomy, reduced chest expansion on affected
side, apex beat shifted towards the side of the pneumonectomy.
▪ Percussion: Dull on the affected side.
▪ Auscultation: Reduced breath sounds on the affected side (if the trachea has been dragged over
you may hear transmitted bronchial sounds from this).
Examining a lung transplant:
▪ Inspection: Clamshell incision (transverse thoracosternotomy scar), median sternotomy scar,

lateral thoracotomy scar, Cushingoid (steroids), gum hypertrophy (cyclosporin), hypertrichosis
(cyclosporin).
▪ The remainder of the exam depends on whether a single or double transplant was performed –
if single, you may have one abnormal lung (i.e.: with fibrotic changes) and one normal lung; if
double, you may find completely normal palpation, percussion and auscultatory findings.
General: Consider factors like the underlying cause – for example if they are hyperexpanded consider
COPD.
Questions:
1. What are the indications for lobectomy and pneumonectomy? Lung cancer (almost always non-
small cell rather than small cell), solitary pulmonary nodules, localised bronchiectasis (localised
with recurrent infection or haemoptysis), lung abscess, tuberculosis.
2. What are the common indications for lung transplant? Obstructive (COPD, alpha-1-anti-trypsin
deficiency), restrictive (pulmonary fibrosis), supparative (cystic fibrosis, bronchiectasis), vascular
(pulmonary hypertension).
3. What are the complications of lung transplantation? Infection including viral agents like HSV and
CMV, rejection (very common, with most experiencing a couple of episodes of rejection in the
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first 6 months), immunosuppression and cushings related to immunsuppressant medications,

and bronchiolitis obliterans.
Obesity Hypoventilation Syndrome (OHS)
Also known as the Pickwickian Syndrome.
Scenarios: Snoring, headaches, poor sleep quality, breathlessness, reduced exercise tolerance, difficult
to control blood pressure, impotence.
Examination of OHS:
▪ Inspection: Obese (predominantly abdominal), peripheral and central cyanosis, respiratory flap
due to hypercapnia, micrognathia, enlarged tonsils and uvula, increased circumference of the
neck.
▪ Complications:
▪ Pulmonary hypertension: Left parasternal heave, loud P2, split second heart sound.
▪ Cor pulmonale: Raised jugular venous pressure, peripheral pitting oedema.
▪ Secondary polycythaemia: Palmar erythema, facial plethora.
▪ Weight loss surgery: Apronectomy scar.
▪ There may often be features of obstructive sleep apnoea in the history too, or evidence of a
clear underlying cause such as acromegaly, hypothyroidism and Cushing’s.
▪ Congestive cardiac failure.
▪ Other chronic lung disease (e.g: COPD) with steroid use and Cushingoid features.
Investigations:
▪ Bedside tests: Oxygen saturations (reduced), blood pressure (poorly controlled), calculate Body
Mass Index (for OHS and most cases of OSA), arterial blood gas (hypoxia,
hypercapnia), electrocardiogram (right heart strain), Epworth sleep score questionnaire.
▪ Bloods: FBC (secondary polycythaemia), TFTs (hypothyroidism), assessment of cardiovascular

risk with lipids (raised), fasting glucose (raised).
▪ Imaging: Chest radiograph (other causes of breathlessness including malignancy and

COPD), echocardiogram (right heart strain due to pulmonary hypertension).
▪ Special tests: Sleep studies including overnight oximetry and full polysomnography (hypoxia,
apnoeas >10s, hypopnoeas if OSA also present), spirometry (restrictive lung defect).
Treatment:
▪ Non-pharmacological: Education, dietician referral, exercise advice, DVLA information (stop

driving until symptoms controlled), smoking cessation (support, NRT, varenicline/champix,
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buproprion/zyban), reduce alcohol intake, avoid medications that may contribute to sedation
(sedating anti-histamines), mandibular advancement devices.
▪ Medical: Continuous positive airway pressure (CPAP via face or nasal mask), long term oxygen
therapy (LTOT); occasionally modafinil (stimulate wakefulness).
▪ Surgical: To the upper airways such as uvulopalatopharyngoplasty.
Questions:
1. What is polysomnography? Done in a sleep lab – EEG, EMG, EOG, ECG, oxygen saturation, body
position recording. These are taken together to look for evidence of respiratory disturbance and
whether it is obstructive at the upper airways or centrally due to reduced respiratory drive.
2. What are the complications of obesity? Insulin resistance, hypertension, hyperlipidaemia,

myocardial infarctions, strokes, cancers, arthritis, thrush (intertrigo), reduced life expectancy.
3. What are the secondary causes of obesity? Endocrine causes such as hypothyroidism, Cushing
syndrome, hypothalamic disease causing hyperphagia; or genetic diseases including Prader Willi
Syndrome.
4. What are the diagnostic criteria for obesity hypoventilation syndrome? PaCO2 >6, BMI >30, sleep
breathing disorder without another explanation for this.
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Pleural Effusion
productive cough, chest pain.
Examining a pleural effusion:
▪ Inspection: Reduced chest expansion on the affected side, tachypnoeic.
▪ Palpation: Trachea shifted away from the affected side, reduced chest expansion on the
affected side, apex beat shifted away from the affected side.
▪ Percussion: Stony dull percussion note.
▪ Auscultation: Reduced breath sounds, crackles and/or bronchial breathing heard at it’s upper
edge, reduced vocal resonance.
Classic cases:
1. Rheumatoid arthritis: Symmetrical deforming polyarthropathy mainly affecting the small joints
of the hands which spares the distal interphalangeal joints (DIPJs) and is associated with ulnar
presence of infection, urine dip for proteinuria.
2. Malignancy: Cachectic, clubbing, wasting of dorsal interossei, hypertrophic pulmonary

osteoarthopathy (HPOA), Horner’s syndrome (miosis, ptosis, anhidrosis), cervical
lympadenopathy, mastectomy scars, lobectomy/pneumonectomy scars.
3. Empyema: Chest drain in-situ or scar from recent drainage, IV cannula and IV antibiotics, febrile.
4. Congestive cardiac failure: Cool peripheries, irregularly irregular pulse, raised JVP, sacral
oedema, basal crepitations, peripheral oedema.
5. Chronic liver disease: Leukonychia, palmar erythema, easy bruising, liver flap, jaundice, spider
naevi, gynaecomastia, distended abdomen, sacral and peripheral oedema.
6. Renal failure: AV fistula, scars for current or previous neck lines, raised JVP, pericardial rub, basal
crepitations, sacral and peripheral oedema, catheterised.
7. Pulmonary embolism: Accompanying calf swelling and tenderness.
8. Yellow nail syndrome: Yellow, slow growing nails with some degree of onycholysis and very
curved, and features of a pleural effusion or bronchiectasis on the chest, and lymphoedema
elsewhere.
▪ Fluid within the pleural space: Exudate (infection which could be bacterial or mycobacterial,
malignancy which could be primary or secondary, inflammatory conditions like RA), transudate
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(heart/liver/renal failure, hypoalbuminaemia secondary to malabsorption and nephrotic

syndrome, hypothyroidism), empyema, haemothorax, or chylothorax.
▪ Pleural thickening: Pleural plaques due to asbestos exposure or mesothelioma (note normal
vocal resonance).
▪ Mass lesion: Primary bronchial malignancy or secondary.
▪ Fluid within the lung: Pneumonia, pulmonary oedema, pulmonary haemorrhage.
▪ Raised hemidiaphragm: Collapse, pneumonectomy, phrenic nerve palsy, diaphragmatic

eventeration, subphrenic abscess, mass within the liver such as metastases.
▪ Bedside tests: ECG (right heart strain), ABG (hypoxia, respiratory failure, acidosis), obtain
a sputum sample (send for MCS and AFBs; cytology to r/o a neoplastic process), urine
dipstick (for proteinuria suggestive of nephrotic syndrome).
▪ Bloods: FBC (anaemia, high white cell counts, platelet count to ensure invasive procedures
safe), CRP/ESR (markers of inflammation), U&Es (renal failure), LFTs (liver failure, protein for
Light’s), LDH (for Light’s), clotting (liver failure, to ensure invasive tests safe); additional tests
depending on suspicion may include blood cultures, ANA, and RF.
▪ Imaging: CXR (size of the effusion, mediastinal shift, co-existent lung pathology to assist in
underlying diagnosis), USS chest (to asses for septations, to insert drains), CT with contrast
enhancement of pleura (examine underlying lung tissue and contralateral lung, mediastinal
lymphadenopathy, pleural thickening; especially if cause remains unclear after aspiration).
▪ Special tests: pleural aspiration with a 21G needle and 20ml syringe (measure LDH, protein,
MCS, gram stain and AFBs, cytology; if non-purulent but infection suspected test pH as <7.2
indicates need for drain, if oesophageal rupture/pancreatitis suspected test amylase, if
chylothorax centrifuge and test for triglycerides, cholesterol crystals, cholesterol and
chylomicrons, if rheumatoid suspected send glucose), percutaneous pleural biopsy (if pleural
nodularity), thoracoscopy (if exudative and malignancy suspected), bronchoscopy (if
haemoptysis or bronchial obstruction).
Referral:
Management:
▪ Non-pharmacological: Chest drain insertion if causing respiratory compromise or if an empyema

or haemothorax; in those with malignant recurrent effusions options include pleurodesis,
pleurectomy and insertion of a long term drain.
▪ Medical: Treatment of the underlying cause, especially true if a transudate (e.g.: heart failure
and diuretics).
Possible questions:
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1. How do you distinguish between a transudate and an exudate? Traditionally an effusion with a
pleural protein of <30g/dL was a transudate, and an effusion with a pleural protein >30g/dL was
an exudate. Due to the grey area near the threshold, Light’s criteria can also be utilised,
especially when the protein is between 25-35g/dL.
2. What are Light’s Criteria? An effusion is an exudate if the pleural fluid protein divided by serum
protein is >0.5, if pleural fluid LDH divided by serum LDH >0.6, and/or pleural fluid LDH is
>2/3rds the upper normal limit of LDH. Only one criteria needs to be met to meet Light’s criteria
for an exudate.
3. What are the causes of a lymphocyte predominant effusion? Tuberculosis, malignancy, CCF, or
any longstanding effusion.
4. How much should be allowed to drain at any one time? 1-1.5 litres after which there is an
increasing risk of fluid shifts and subsequent pulmonary oedema.
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Pulmonary Fibrosis
Possible scenarios: Fatigue, shortness of breath, difficulty in breathing, reduced exercise tolerance.
Examining lung fibrosis: You need to ask yourself three questions…
▪ Which part of the lung is affected?
▪ Is there a possible underlying cause identified examining peripherally?
▪ Are there any signs of treatment such as steroids?
▪ Are there any signs of complications such as cor pulmonale?
Classic cases:
1. Rheumatoid arthritis or methotrexate use: Symmetrical deforming polyarthropathy mainly

affecting the small joints of the hands which spares the distal interphalangeal joints (DIPJs) and
is associated with ulnar deviation and dorsal subluxation of metacarpophalangeal joints (MCPJs),
and nodules on the extensor aspects of the forearm, basal crepitations. Specific issues to
address – presence of immunosuppression, presence of infection, urine dip for proteinuria.
2. Dermatomyositis: Photosensitivity, gottron’s papules, mechanic hands, heliotrope rash, shawl

pattern erythema, proximal myopathy. Specifically address if there is evidence of a primary
malignancy.
3. Limited Systemic Sclerosis: Sclerodactyly, digital ulcerations secondary to Raynaud’s, calcinosis,

smooth/shiny/tight skin on hands and face.
4. Sarcoidosis: Rashes, de- and hyperpigmentation, lupus pernio, lymphadenopathy, erythema

nodosum.
5. Radiation: Lymphadenopathy, mediastinoscopy scars, radiation tattoo marks.
6. Amiodarone: Slate grey skin, photosensitivity, warfarin or easy bruising, atrial fibrillation or
presence of pacemaker/ICD, basal crepitations.
7. Ankylosing spondylitis: Marked cervical lordosis with exaggerated thoracic kyphosis, limited
movement in the spine, protuberant abdomen, reduced chest expansion, mid-distolic AR
murmur, apical crepitations; offer urine dip to asses if proteinuria.
8. Fibrosis patient with single lung transplant: Fibrotic changes on one side, normal sounds on the
other with a thoracotomy scar.
Associated signs:
1. Steroid use: Purpura, cushingoid appearance, proximal myopathy.
2. Cyclosporin use: Occasionally used as a steroid sparing agent and causes gum hypertrophy.
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6. Malignancy: Cachexia, lymphadenopathy, monophonic wheeze etc.
When examining someone it is useful to remember this classification as it will remind you of the key
ones and the areas they affect:
▪ Apical (BREASTS-X): Berylliosis, Radiation, Extrinsic allergic alveolitis, Ankylosing

spondylitis, Sarcoidosis, Tuberculosis, Silicosis, histiocytosis-X.
▪ Basal (RRAAID): Radiation, Rheumatoid arthritis, Autoimmune Disease, Asbestosis, Idiopathic

pulmonary fibrosis, Drug related (amiodarone, nitrofurantoin, methotrexate and illicit drugs).
▪ Other causes of crackles: pneumonia, heart failure, bronchiectasis, malignancy. The crackles of
fibrosis do not clear with coughing and tend to be fine, end inspiratory ones.
However, if asked by the examiner what the causes of ILD are it may be more helpful to classify them in
a neater, more systematic way:
▪ Idiopathic
▪ Iatrogenic: Radiation, medications (methotrexate, amiodarone, nitrofurantoin, illicit drugs and

some chemotherapy agents).
▪ Inhaled toxins: Asbestosis, silicosis, berylliosis, extrinsic allergic alveolitis.
▪ Infectious: Tuberculosis.
▪ Rheumatological: Rheumatoid arthritis, SLE, systemic sclerosis, dermatomyositis, sarcoidosis,

HLA B27 associated arthropathies, ANCA associated vasculitidies.
▪ Inherited: Neurofibromatosis, Gaucher’s disease, tuberous sclerosis,

lymphangioleiomyomatosis.
▪ Bedside tests: PEFR, ECG (right heart strain), ABG (hypoxia, respiratory failure, acidosis)
inflammation) and consider special tests such as autoimmune screen including ANA, RF, ANCA,
anti-GBM, anti-dsDNA, ACE, serum precipitins, CK.
▪ Imaging: CXR (linear or reticulonodular infiltrates, pattern of disease, honeycombing if severe,

BHL in sarcoid and TB, pleural plaques of asbestos), high resolution CT (diagnostically –
pattern/distribution/subtype; prognostically – ground glass infiltrates mean lots of cells and so a
process that tends to be steroid responsive, honeycombing in contrast has a poor
prognosis), MRI (occasionally used for apical imaging).
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▪ Special tests: Spirometry (restrictive defect with FEV1:FVC >70%, reduced TLC and FRC, reduced
gas transfer factor and coefficient), bronchoalveolar lavage (diagnostic – asbestos, eosinophils,
neoplastic cells; prognostic – lymphocytosis indicates a good response to
steroids), biopsy (bronchoscopy + transbronchial lung biopsy or video-assited thoracoscopic
biopsy or open lung biopsy for histological analysis).
Referral:
Management:
▪ Conservative: Smoking cessation, stop causative medications and or occupational exposures,

advise pneumococcal and annual influenza vaccination in addition to routine vaccinations of
childhood, consider long term or ambulatory oxygen therapy.
▪ Medical: Immunosuppression (pred 40mg trial, then consider continuing or tapering off), steroid
sparing agents, traditionally triple therapy (steroids, azathioprine and NAC) but now moving
away from this (PANTHER trial findings – increased mortality and hospitalisations), pirfenidone
(criteria: IPF, FVC 50-80% predicted, started by specialist team).
▪ Surgical: Single or double lung transplant.
Possible questions:
1. What is the commonest form of idiopathic pulmonary fibrosis? Usual interstitial pneumonia (UIP)
which shows a sub pleural distribution on HRCT.
2. What are the histopathological subtypes of idiopathic interstitial pneumonias? They can be
broadly divided into the types below. The importance is that they differ significantly in terms of
mortality and treatment options. For example cryptogenic organising pneumonia has a good
steroid response whereas the only option for diffuse alveolar damage is supportive care.
▪ Usual interstitial pneumonia
▪ Desquamative interstitial pneumonia
▪ Nonspecific interstitial pneumonia
▪ Cryptogenic organising pneumonia
▪ Diffuse alveolar damage
▪ Lymphoid interstitial pneumonia
3. What is pirfenidone? Immunosuppressant with anti-fibrotic effects (e.g.: through reducing

fibroblast activity) shown to reduce disease progression and mortality.
*Example presentation: This is an elderly male in whom my presumed diagnosis is interstitial lung
disease. This is suggested by the presence of clubbing and fine-end inspiratory crepitations heard at the
lung bases which do not alter with coughing. The differential diagnosis of basal lung fibrosis includes
idiopathic fibrosing alveolitis, asbestosis, autoimmune disorders like rheumatoid arthritis and
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dermatomyositis, medications like methotrexate and amiodarone, and radiation induced; and similar
auscultatory findings can be heard in infection and left heart failure. There was no evidence of
respiratory failure. There was a loud P2 and pitting oedema to the mid calf suggestive of cor pulmonale.
Although the patient is cachectic there are no palpable lymph nodes. To investigate him further I would
like an arterial blood gas to assess oxygenation, electrocardiogram for right heart strain, and spirometry
to confirm a restrictive lung defect with reduced gas transfer. On the blood tests I would be particularly
interested in an autoimmune screen and inflammatory markers. The imaging modality of choice would
be high resolution computed tomography of the chest looking for ground glass shadowing and honey-
combing, and I would also request echocardiography to asses right heart function and pressures. The
diagnosis could be explored further through bronchoalveolar lavage or lung biopsy. I would counsel him
on the diagnosis and signpost to appropriate support groups, advise smoking cessation and avoidance of
occupational exposures, arrange pneumococcal and annual influenza vaccination, and consider referral
to pulmonary rehabilitation. I would treat any underlying conditions, and he should receive a trial of
steroids, and be considered for other steroid sparing or anti-fibrotic agents, infections should be treated
promptly, and the need for long term oxygen therapy considered. Single or double lung transplant is
offered to some patients.
Tuberculosis
Scenarios: Cough, night sweats, fevers, weight loss, haemoptysis. Patients with TB can be in the
examination related to their initial presentation or long term sequelae of treatment prior to the advent
of successful antibiotic therapy etc.
Classic cases: General points to note are if the patient is cachectic and has finger clubbing, if there is
orange discolouration of eye secretions or urine in the catheter bag (rifampicin use), and whether there
is kyphosis (Pott’s disease).
▪ Pleural effusion: Check the area around the safe triangle for chest drain scars, reduced chest
expansion unilaterally, trachea and apex beat displaced away from effusion (if very large), stony
dull percussion note, reduced air entry, bronchial breathing at the upper edge, reduced vocal
resonance.
▪ Lobectomy: Thoracotomy scar, chest wall retraction, reduced chest expansion unilaterally,
trachea and apex beat (occasionally) pulled towards site of surgery, dullness to percussion or
hyperresonance over remainder of lung, reduced air entry at site of surgery.
▪ Apical lung fibrosis: Tracheal deviation towards the affected side, fine crepitations heard at the
lung apex.
▪ Local bronchiectasis: Either a traction bronchiectasis in and around fibrotic areas, or secondary
to bronchial obstruction from a granuloma or enlarged lymph node. Coarse crepitations are
heard.
▪ Phrenic nerve crush to paralyse ipsilateral diaphragm: Scar superior to the clavicle in the
supraclavicular fossa, reduced chest expansion on affected side, dull percussion note at the
base, reduced air entry at the base.
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▪ Thoracoplasty: Chest wall deformity, absence of a section of ribs, trachea and apex
(occasionally) pulled towards affected area, reduced chest expansion on affected side, dull
percussion note, reduced air entry.
▪ Induced pneumothorax: Scarring in the safe triangle from recurrently inducing pneumothoraces.
▪ Plombage: Inert objects inserted into the pleural cavity to compress adjacent lung – variable
findings but likely dull percussion note, reduced air entry and reduced chest expansion.
Investigations:
▪ Bedside tests: Weight (as a baseline, to estimate weight loss, for dosing), fluid samples for ziehl
nielssen/auramine staining and culture (sputum, early morning urine).
▪ Bloods: FBC (anaemia), CRP/ESR (raised), LFTs (rifampicin, isoniazid and pyrazinamide are
hepatotoxic), virology (to asses for HIV co-infection).
▪ Imaging: Chest radiograph (Apical fibrosis, consolidation, cavities, collapse; hilar

lymphadenopathy, Ghon focus, Ranke’s complex; exclude alternatives like aspergilloma within
an old TB cavity), CT thorax (more detailed than CXR).
▪ Special tests: Bronchoscopy and bronchalveolar lavage (microbiological samples), lymph node
biopsy (histological samples for microscopy and culture).
Questions:
1. What is the difference between…
▪ Drug resistant TB? Resistant to one of the anti-TB therapies.
▪ Multi-drug resistant TB? Resistant to at least rifampicin and isoniazid.
▪ Extremely drug resistant TB? Resistant to isoniazid, rifampicin, fluroquinolone and at

least one of the injectable second like agents like amikacin.
2. What is a Ghon focus and a Ranke’s complex? A Ghon focus is a tuberculoma within the lung as
part of primary TB which is known as a Ghon complex if associated with hilar lymphadenopathy.
If these then progress to undergo calcification they are known as Ranke’s complex.
3. What stages of pulmonary TB are there? Broadly they can be divided into latent and active, with
the later divided into primary and post-primary/re-activation.
4. What was the theory behind old surgical treatments for TB? To collapse the affected lobe and
thereby reduce oxygenation to the TB microbes – however, TB can survive in low oxygen
environments.
5. What is the difference between…
▪ Mantoux? Tuberculin injected intradermally to induce a type IV delayed hypersensitivity

reaction over the following 24-48 hours. The size of the reaction and history of past
vaccination are then taken into consideration when interpreting the result. False
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negatives can occur in the presence of immunusuppression (e.g.: advanced HIV) and
sarcoidosis.
▪ Quantiferon testing? Measures the interferon gamma response to tuberculosis antigens

which are not present in the BCG vaccine and is more sensitive so less likely to cause a
false negative in an immunosuppressed individual.
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Brief Clinical Consultation

Pulmonary Embolism
Scenarios: Chest pain, breathlessness, cough, coughing up blood, calf pain.
Questions to ask:
▪ When did the symptoms start, did they come on suddenly or gradually, and how have they
progressed since then?
▪ Any chest pain, pain breathing in, sharp pain?
▪ Any cough, coughing up blood, coughing up phlegm and what colour if so?
▪ Any calf pain?
▪ Any palpitations, dizziness?
▪ Any recent travel, illness or surgery?
▪ Are you on the oral contraceptive pill or other hormonal contraception? Is there any chance you
could be pregnant?
▪ Any recent weight loss or have you noticed any lumps or bumps anywhere?
▪ Any fever or chills?
▪ Any other medical problems? Ever been diagnosed with blood clots in the legs or lung, or cancer?
▪ Are you on any medications? Any allergies?
▪ Any family history of any conditions – specifically of blood clots?
▪ Do you smoke, drink alcohol or take recreational drugs?
▪ Are you working at the moment?
▪ Any concerns or specific questions that you have for me?
Systems to examine:
▪ Haemodynamic status: Capillary refill time, pulse rate (tachycardia or atrial fibrillation), jugular
venous pressure.
▪ Respiratory: Sputum pots, peripheral or central cyanosis, pleural rub, crackles, bronchial
breathing, wheeze, bruits.
▪ Cardiac: Right ventricular heave, palpable or loud P2, wide splitting of S2.
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▪ Legs: Calf pain or swelling.
▪ Vascular: Pulmonary embolism (due to hypercoagulability, endothelial injury, haemodynamic

stasis or turbulence), vasculitis, arterio-venous malformations.
▪ Parenchymal: Pneumonia, aspiration pneumonia and tuberculosis, pneumothorax, neoplasia

(primary or secondary).
▪ Airways: Bronchiectasis.
▪ Cardiovascular: ACS, aortic dissection, tamponade.
▪ Rareties: Hereditary haemorrhagic telangiectasia, endometriosis, other embolic sources (septic

emboli, fat emboli, air emboli, amniotic fluid emboli).
Investigations: This is a medical emergency and as such I would see and assess these patients as a
priority to perform an ABCDE and risk assessment.
▪ Bedside tests: Oxygen saturations (hypoxia), temperature (febrile if infection), blood

pressure (hypotensive if massive PE; both arms if dissection a
possibility), electrocardiogram (sinus tachycardia is the commonest finding, but look for right
heart strain in V1-V3 and III in particular with T wave inversion and ST depression, or the S1Q3T3
pattern), arterial blood gas (hypoxia, hypocapnoea and alkalosis).
▪ Bloods: FBC (anaemia, thrombocytopaenia), clotting (baseline pre-

anticoagulation), ESR/CRP (infection), LFTs (baseline pre-anticoagulation, consideration of
metastatic disease), bone profile (metastatic disease), calculate a Wells score and consider the
need for a d-dimer (good negative predictive value so use if suspicion low), troponin (though
may also be positive in PE).
▪ Imaging: Chest radiograph (main reason is to exclude alternative causes such as mass lesions
and consolidation), CT pulmonary angiogram (filling defects, alternative causes), ventilation
perfusion SPECT (V:Q mismatch; for those with contrast allergy or significant renal
impairment), compression ultrasonography of the legs (deep venous
thrombosis), echocardiogram (can diagnose massive PE).
▪ Special tests: Consider sending a thrombophilia screen prior to initiating anti-coagulation (eg:
multiple previous thromboses, unusual site thromboses, significant family history), consider
screening for malignancy in unprovoked PEs.
Treatment:
▪ Non-pharmacological: Re-assurance, counsel on anti-coagulation and it’s risks and interactions.
▪ Medical: Oxygen, analgesia, start with low molecular weight heparin at treatment dose (or UFH
if significant renal impairment), prior to conversion to warfarin or NOVACs (e.g.: rivaroxaban) –
give for at least 3 months if unprovoked, for 3 months if provoked and at least 6 months if
cancer; if massive PE (BTS guidelines: Causing circulatory collapse as evidenced by tachycardia,
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hypotension, requiring >40% FiO2 and clinical/ECG/ECHO features suggestive of right heart
strain) then 1st line therapy is thrombolysis (e.g.: 50mg bolus of alteplase).
▪ Surgical: Inferior vena caval filter (if patient cannot have anti-coagulation; remove and start anti-
coagulation at a later date if circumstances change), surgical embolectomy.
Questions:
1. How would your management alter if this was a pregnant woman?
▪ VTE is the biggest direct cause of maternal mortality in the UK.
▪ Non-massive PE investigation: Chest radiography and doppler ultrasound of the lower

limbs to start; a raised d-dimer can simply be a feature of pregnancy. If I had a
reasonable clinical suspicion of PE I would initiate LMWH prior to further investigation. If
these were unable to explain symptoms I would then proceed to VQ scanning or CTPA
(the former carries a higher risk of childhood cancer, whilst the latter carries a higher
risk maternal breast cancer).
▪ During the scans you and your baby will be exposed to a low level of radiation.
This is no different to radiation that we are being exposed to all the time – from
the sun, rocks in the ground and the food we eat. Whilst we try very hard to
avoid exposing patients to extra radiation, the reality here is that leaving a blood
clot undiagnosed and untreated is of far more danger to you and your child than
the small risks from the scan, as clots can cause long term lung damage and
even death.
▪ We will discuss your case with the imaging specialists and take into account the
stage of your pregnancy and your kidney function to decide which scan is best,
and if possible, to alter the scanning process to reduce the amount of radiation
to the lowest dose possible whilst obtaining useful pictures.
▪ Massive PE: ECHO and CTPA, and consider thrombolysis or IV UFH.
▪ Ongoing treatment: LMWH (continue for at least 3 months and/or until 6 weeks
postpartum and graduated compression stockings.
2. What are the specific changes in pregnancy that put a woman at risk of VTE? Venous stasis,
haemorrhage, pre-eclapmsia and eclampsia, being an older mother and multiparous also
increases risk.
3. What would be contraindications to thrombolysis? Absolute contraindications would include

haemorrhagic stroke, ischaemic stroke within 6 months, CNS damage or CNS cancer, major
trauma or surgery within the last 3 weeks, and GI bleeding within 1 month.
4. What is rivaroxaban? Factor Xa inhibitor that can be used in the treatment of PE.
5. What are the other causes of a cough with a normal chest radiography? Gastro-oesophageal
reflux disease, post-nasal drip, asthma and atopy, medications like ACE inhibitors.
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Sudden Loss of Vision

Scenarios: Changes in vision, curtain across vision.
Questions to ask:
▪ When did it start, how has it progressed, has it continued to get worse or gone away completely?
▪ Is one eye or both eyes affected?
▪ Painful or painless?
▪ Was it preceded by floaters in the eye or flashing lights? Can you see haloes around lights? Could
you zig zag lines across your vision?
▪ Was it associated with weakness, numbness or pins and needles in the arms or legs, problems
with your speech, or a fit?
▪ Have you hit your head recently or done anything that might have damaged the eye?
▪ How are you feeling otherwise – weight loss, fevers, muscle pains, headaches, rashes, joint
pains?
▪ Do you wear glasses – short or long sighted?
▪ Any other medical problems – specifically, have you ever been told you have an irregular heart
beat or atrial fibrillation, high blood pressure, stroke or heart attack? If you have diabetes did
you measure your blood sugar during the episode?
▪ Are you on any medications?
▪ Any allergies?
▪ Any family history or eye problems or strokes?
▪ Do you smoke, drink alcohol, or take recreational drugs?
▪ What do you do for a living?
▪ Any concerns or questions for me?
Systems to examine:
▪ Eye:
▪ Look at the eye for obvious asymmetry or abnormality.
▪ Feel the temporal arteries for tenderness, thickening and reduced pulsations.
▪ Visual acuity.
▪ Visual fields.
▪ Pupils – size (fixed and mid-dilated or dilated), RAPD.
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▪ Fundoscopy – red reflex, swollen optic disc, optic disc pallor, retinal abnormalities.
▪ Cardiovascular: Feel the pulse for irregularity, listen over the carotids for bruits, listen to the
heart sounds for murmurs.
▪ Complete with a neurological examination if there is time.
▪ Anterior chamber: Acute angle closure glaucoma.
▪ Vitreous: Vitreous haemorrhage.
▪ Retina: Central retinal artery occlusion, amaurosis fugax (transient obstruction of retinal,
ophthalmic or ciliary artery), central retinal vein occlusion, retinal detachment.
▪ Optic nerve: Optic neuritis, giant cell arteritis.
▪ Intracerebral: Stroke, migraine.
Investigations:
▪ Bedside tests: Blood sugar (low or high), electrocardiogram (atrial fibrillation), blood
pressure (low or high).
▪ Bloods: FBC (polycythaemia, thrombocythaemia), U&Es (renal

impairment), lipids (raised), fasting glucose and HbA1c (raised), ESR (raised), clotting (deranged).
▪ Imaging: Carotid doppler (for CRAO and amaurosis fugax), MRI or CT head (ischaemic
events), fluoroscein angiography (for CRVO to establish if laser needed).
▪ Special tests: Temporal artery biopsy (inflammation).
Treatment:
▪ Non-pharmacological: Re-assurance, sign post to information leaflets and support groups, input
from physiotherapy and optometry teams, consider the need for urgent ophthalmology review
or inpatient assessment.
▪ Medical:
▪ Glaucoma: IV acetazolamide, topical pilocarpine, analgesia, anti-emetics, surgical or

laser iridotomy.
▪ Vitreous haemorrhage: Laser therapy to new vessels, vitrectomy, optimise diabetic

control.
▪ Central retinal artery occlusion: Firm ocular massage if presenting within 90 minutes,
measures to reduce intraocular pressure if presenting acutely, optimisation of
cardiovascular risk factors.
▪ Amaurosis fugax: 300mg aspirin for 2 weeks followed by 75mg of clopidogrel daily.
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▪ Central retinal vein occlusion: Optimise/treat underlying cardiovascular and

haematological diseases, pan retinal focal neovascularisation or anti-VEGF to prevent
neovascularisation.
▪ Optic neuritis: IV then oral steroids.
▪ Giant cell arteritis: High dose oral steroids.
▪ Migraine: High dose aspirin, anti-emetics and triptans.
Questions:
1. How would you decide when an individual with a history of amaurosis fugax needs
assessment? A combination of the ABCD2 score and clinical assessment. Those requiring
inpatient assessment include crescendo TIAs (more than 2 in a week) or ongoing
symptoms/signs. If they score 4 or more they need to be seen and investigated in a specialist
clinic within 24 hours, if they score 3 or less, they need to be seen and investigated within a
specialist clinic within 1 week.
2. Do patients who’ve had a TIA or amurosis fugax need brain imaging? Not necessarily – it is
indicated in those in whom there is uncertainty regarding the pathology (suspected migraine,
epilepsy or tumour) or vascular territory (as it will affect decision for CEA). Ideally they should be
imaged with diffusion weighted MRI, but a CT head is a reasonable option if MRI is not
available urgently. All TIA/AmFu patients need dopplers if they have anterior circulation
symptoms and would be potential surgical candidates for endarterectomy.
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Syncope
Scenarios: Fainting, palpitations, loss of consciousness, jerking movements.
Questions to ask:
1. How many episodes have you had? How long have you been having them for? Can you think of
anything that changed around that time?
2. Do you get any warning that they’re about to happen – palpitations, chest pain, shortness of
breath, dizziness, weakness, headache, change in sensation, hearing or taste?
3. What happens when you faint – do you lose consciousness and if so for how long? Has anyone
seen you make any unusual movements? Are you aware of what’s happening?
4. What happens when you come round again – have you noticed tongue biting or incontinence?
Can you get yourself off the floor afterwards or do you need help? Do you feel sleepy or
confused?
5. Have you sustained any injuries?
6. Any changes in your speech, any weakness or numbness?
7. Have you ever had anything like this before? Any strokes, seizures, fits, epilepsy, or problems
with the head?
8. Any other problems you see the doctor for? Any medications? Any family history?
9. Do you drink alcohol, smoke or take any recreational drugs?
Systems to examine:
▪ Haematological: Pale palmar creases, conjunctival pallor, purpura.
▪ Cardiovascular: Bradycardia, irregular rhythm, heart murmurs, 3rd heart sound and basal lung
crepitations with peripheral oedema.
▪ Neurological: If focal neurology reported.
▪ Medication and alcohol.
▪ Neurally mediated: Vasovagal, situational, carotid sinus hypersensitivity.
▪ Cardiac: Brady- or tachyarrythmias, aortic stenosis, outflow tract obstruction.
▪ Postural hypotension and autonomic failure.
▪ Neurological: Epilepsy (idiopathic or secondary to intracranial lesions), narcolepsy, cataplexy.
▪ Steal syndromes.
▪ Hyperventilation and panic attacks.
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Investigations:
▪ Bedside tests: blood pressure including lying and standing (hypotension, postural hypotension
usually with a drop of >20 systolic or >10 diastolic), electrocardiogram (conduction
abnormalities, sinus bradycardia), finger prick glucose (hypoglycaemia).
▪ Bloods: FBC (anaemia), U&Es (electrolyte abnormalities), magnesium (electrolyte

abnormalities), bone profile (electrolyte abnormalities), TFTs (hypothyroidism).
▪ Imaging: Echocardiogram (valvular abnormalities).
▪ Special tests: Tilt table testing (postural hypotension), carotid sinus massage (carotid sinus
hypersensitivity), longer ECG monitoring (ambulatory 24 or 48 hour monitors, event recorders,
or implantable/external loop recorders).
Management:
▪ Non-pharmacological: Advice that if they symptoms coming on that they get themselves down
to the floor, review medication list and stop contributing agents, avoid precipitants such as
alcohol, stay hydrated, DVLA considerations.
▪ Medical: Treat the underlying cause.
Questions:
1. What condition would you suspect if the ECG showed right bundle branch block and ST elevation
in V1-V3? Brugada Syndrome.
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Thunderclap Headache
Scenarios: Sudden headache, worst ever headache, fit.
Questions to ask:
▪ How quickly did the headache come on – over seconds, minutes, hours; when did this happen,
and what were you doing at the time?
▪ How severe was it – 0 being no pain at all and 10 being the worst pain you can imagine?
▪ How long did it take to get that severe – over seconds, minutes, hours?
▪ How bad is it now?
▪ Was there any warning that this was going to happen? Do you normally suffer from headaches
(and if so, is this one like your usual headaches/what made you come into hospital on this
occasion)?
▪ What does the headache feel like it and where is it?
▪ Do you have any additional symptoms like nausea, vomiting, neck stiffness, fever, double vision,
reduced vision, weakness, numbness, and have you had any fits?
▪ Do you have any other medical problems?
▪ Is there a family history of any conditions? Anyone else with headaches or had problems with the
brain?
▪ Do you smoke, drink alcohol, or take recreational drugs (e.g.: cocaine)?
Systems to examine:
▪ Blood pressure, temperature.
▪ Neurological: Acuity, pupils (dilated down and out pupil with ptosis suggests a posterior
communicating artery aneurysm, miosis and partial ptosis of Horners suggests dissection), fields,
movements, fundoscopy (papilloedema, intraocular haemorrhage), pronator drift, strength,
reflexes, co-ordination, plantars.
▪ Meningism: Neck stiffness, photophobia, Kerning’s sign (hip and knee flexed, slowly straighten
the knee, positive if they report pain on extension).
▪ Primary headache: Migraine, coital headache.
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▪ Secondary headache: Subarachnoid haemorrhage, cerebral venous sinus thrombosis, carotid

artery dissection, malignant hypertension, pituitary apoplexy, glaucoma, meningitis, encephalitis
and cerebral abscess.
Investigations:
▪ Bedside tests: Blood pressure (hypertension is a risk factor), electrocardiogram (QT

prolongation, arrhythmias, ST changes).
▪ Bloods: Baseline bloods.
▪ Imaging: Computed tomorgraphy of the head ideally within 6 hours (to diagnose and exclude
differentials, sensitivity of up to 100% within 6 hours if reviewed by a specialist neuroradiologist)
followed by angiography if SAH confirmed to identify the site of the bleed.
▪ Special tests: Lumbar puncture (CT will miss 2% of SAH, so if negative go onto LP, ideally at 12
hours, looking for xanthochromia – the lab will measure oxyhaemoglobin and bilirubin).
Treatment:
▪ Non-pharmacological: Urgent referral to a neurosurgical centre with intubation, ventilation, NG

feeding etc as necessary.
▪ Medical: Oral nimodipine (reduces risk of vasospasm and subsequent cerebral ischaemia),
analgesia, anti-emetics, anti-epileptics.
▪ Surgical: Open (clipping) or endovascular (coiling) treatment (to prevent re-bleeding).
Questions:
1. What genetic conditions are associated with an increased risk of SAH? Autosomal dominant
polycystic kidney disease, Ehlers Danlos syndrome, Marfan’s syndrome.
2. What are the complications of SAH? Re-bleeding, vasospasm and cerebral ischaemia,
hydrocephalus, seizures, epilepsy, death.
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Transient Ischaemic Attack (TIA)

Scenarios: Discrete episode lasting <24 hours involving slurred speech, difficulty swallowing, vertigo,
weakness, numbness, visual loss.
Questions to ask:
1. How quickly did symptoms develop?
2. How long did the symptoms last for?
3. Any previous episodes or episodes of visual loss alone?
4. Was there associated symptoms of slurred speech/swallowing difficulties/speech difficulties/limb

weakness/limb numbness/facial drooping etc?
5. Have the symptoms completely gone away now?
6. Was there aura/headache/pins and needles/fitting/abnormal movements/incontinence/tongue

biting/palpitations/sweating/hunger?
7. Do you have diabetes (if so was sugar tested during

event)/hypertension/hypercholesterolaemia/MIs/smoking/alcohol/drug abuse/family history?
Systems to examine:
1. Feel the radial pulse for atrial fibrillation.
2. Look for xanthelasma and corneal arcus.
3. Examine the cardiovascular system, listening in all four areas.
4. Auscultate the carotids.
5. *If visual loss was in the history – visual acuity, visual fields, eye movements, fundoscopy.*
6. Ask for a finger prick glucose, a urine dipstick for protein/blood/glucose, fundoscopy, blood
pressure in both arms, and an ECG.
7. Request to proceed to a full neurological examination of the cranial nerves and limbs including a
swallow test (if time allows and patient sitting in chair consider a focused examination i.e.:
Follow 1 stage then 2 stage commands, facial nerve movements, palatal and tongue deviation,
pronator drift, muscle strength in arms, sensation in arms, finger-nose).
▪ Migraine: Warning signs, positive symptoms, headache, photophobia, phonophobia, nausea and
vomiting.
▪ Epilepsy: Warning signs, positive symptoms, drowsy afterwards, no recollection of event, urinary
incontinence, tongue biting.
▪ Hypoglycaemic episode: Palpitations, sweating, hunger, loss of consciousness.
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▪ Temporal arteritis: If visual loss – headache, scalp tenderness, jaw claudication, painful proximal
muscles.
Determining urgency:
Decide it its in the carotid or vertebrobasilar circulation. Use the ABCD2 score – Age >60 (1); BP >140s
and/or 90d (1); Clinical features of unilateral weakness (2), speech disturbance without weakness (1),
other (0); Duration >60 minutes (2), 10-59 minutes (1), <10 minutes (0); Diabetes (1). Scores determine
management:
▪ 4 or more or crescendo TIA: Specialist investigation within 24 hours.
▪ 3 or less: Specialist investigation within 1 week.
The other reason you may request urgent inpatient evaluation are 2 or more TIAs (including amaurosis
fugax) in a week (crescendo), on warfarin therapy (for urgent imaging to rule out a bleed).
▪ Bedside tests: As requested above.
▪ Blood tests: FBC (anaemia, polycythaemia, thrombocythaemia,

thrombocytopaenia), U&Es (renal failure), bone
profile (hypercalcaemia), glucose (hyperglycaemia) and HbA1c (monitor long term
control), lipids (hyperlipidaemia), clotting (INR), ESR (particularly if amaurosis fugal, to rule out
temporal arteritis); consider if panel looking for unusual causes warranted (i.e.: <65, lack of risk
factors etc) including viral screening, ANA, anti-dsDNA, anti-cardiolipin, complement.
▪ Imaging: CXR (aspiration, cardiomegaly), carotid dopplers (significant stenosis on the

appropriate side may warrant surgery, only request if patient is a surgical
candidate), ECHO (embolic source, valvular pathology, ventricular function, bubble ECHO if PFO
suspected), MRI head with DWI +/- MRA (very sensitive for detecting ischaemia and can give
indication of acuity, can rule out alternatives such as tumours and dissection).
▪ Special tests: 24-48 hour tape (to rule out underlying arrhythmia such as AF).
Management:
▪ Non-pharmacological: Smoking cessation, alcohol intake within suggested limits, healthy diet,
weight loss if appropriate, DVLA (no need to inform, but shouldn’t drive for 1 month, or 3
months if 3 or more TIAs in close succession).
▪ Medical: Aspirin 300mg PO for two weeks followed by clopidogrel 75mg PO OD (unless AF etc in
which case anti-coagulation should be considered with warfarin or NOVACs), optimise
BP/DM/Cholesterol.
▪ Surgical: Carotid endarterectomy.
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Upper GI Bleed
Scenarios: Brown or bloody vomiting, abdominal pain, bleeding rectally, black stools, dizziness, fainting,
chest pain, palpitations.
Questions to ask:
▪ When did you first start vomiting?
▪ What colour is it – coffee grounds, brown or bloody; and has it been that colour from the start or
did the blood come later?
▪ How much did you vomit up and how many times did you vomit?
▪ Have you been eating and drinking with this?
▪ Any abdominal pain and if so, can you tell me more about that pain?
▪ When did you last open your bowels – any blood in the stool or black and sticky stools?
▪ Any dizziness, fainting, chest pain or palpitations?
▪ Any previous episodes like this and have you ever had a camera test down the food pipe?
▪ Do you suffer from heart burn or reflux?
▪ Has there been any weight loss recently?
▪ Do you have liver disease?
▪ Do you drink alcohol – how much?
▪ Have you used painkillers like ibuprofen or diclofenac recently?
▪ Do you take aspirin or warfarin?
▪ Have you been on steroids or anti-depressants recently?
▪ Any other medical problems?
▪ Do you take any medications? Any allergies?
▪ Any family history?
▪ Do you smoke or take recreational drugs?
▪ What do you think this could be? Do you have any particular concerns or questions?
Systems to examine:
▪ Haemodynamic status: Capillary refill time, heart rate, jugular venous pressure.
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▪ Abdominal: Peripheral stigmata of chronic liver disease (spider naevi, palmar erythema,
purpura, gynaecomastia, reduced body hair), liver flap, blood in the oral cavity, telangiectasiae
of HHT, Virchow’s node, epigastric tenderness, palpable liver.
▪ Ask to perform a digital rectal examination.
▪ Anatomical:
▪ Inflammation, ulceration, malignancy or vascular malformation (angiodysplasia) at any

point from oesophagus, stomach or duodenum.
▪ Mallory weiss tear.
▪ Varices and portal hypertensive gastropathy.
▪ Aortoenteric fistula.
▪ Clotting abnormalities, warfarin use.
▪ Inherited conditions: Hereditary haemorrhagic telangiectasia.
▪ Other bleeding source: Haemoptysis, nose bleed, oral cavity bleeding.
Investigations: This case could be a medical emergency – I would utilise an ABCDE approach ensuring a
secure airway and IV access together with the following:
▪ Bedside tests: Blood pressure (hypotension, postural

hypotension), electrocardiogram (ischaemia secondary to anaemia).
▪ Bloods: FBC (anaemia, thrombocytopaenia), X-match (at least 2 red cell units, more if significant
bleed, and consider the need for other blood products if large volume transfusions
expected), U&Es (urea for Blatchford score, look for AKI secondary to hypovolemia), clotting and
fibrinogen (correct any abnormalities), LFTs (possibility of vatical bleed in CLD).
▪ Imaging: Erect CXR (to exclude perforation with air under the diaphragm, oesophageal
perforation, aspiration), endoscopic evaluation (urgency dictated by Blatchford score and clinical
assessment, can be diagnostic and therapeutic).
▪ Special tests: Angiography (if endoscopy fails to demonstrate the site of the bleeding and
bleeding ongoing or recurrent).
Treatment:
▪ Non-pharmacological: Resuscitate and consider the need for ITU review, anaesthetic support to
secure airway, or immediate intervention like balloon tamponade (e.g.: Sengstaken Blakemore),
place NBM pending scope.
▪ Medical: IV fluids, blood and other blood product transfusion, anti-emetics (preferred agent:
metoclopramide, as it is pro-kinetic so helps clear the stomach allowing better endoscopic
evaluation); if known variceal bleed give tazocin and adequately resuscitate so there is no
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evidence of ischaemia and at that point consider terlipressin, and post-endoscopy PPI may be
given orally or as an IV infusion for 72 hours, with h.pylori eradication if duodenal ulcer or CLO
positive. Variceal bleeds should be offered secondary prophylaxis with beta blockers like
propanolol or carvedilol as outpatients with repeat endoscopy in 4-6 weeks time.
▪ Surgical: In those in whom haemostasis cannot be achieved consider the need for interventional
radiology or surgical input (partial gastrectomy, TIPSS).
Questions:
1. What is the purpose of the Blatchford score? To decide on need for endoscopy – if you score
more than 0 – you need an endoscopy, if you score 0 you can be managed as an outpatient.
2. What is the purpose of the Rockall score? There is a pre- and post-endoscopy Rockall score
available, with the latter used in predicting mortality and re-bleed risk.
3. What are the complications of an upper GI bleed? Hypotensive shock, organ failure and death,
aspiration pneumonia, sepsis, re-bleed, decompensation of underlying liver disease.
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Angina
Scenarios: Chest pains, breathlessness, palpitations.
Questions to ask:
▪ Tell me more about the chest pain – where, when, spread, severity, quality, relieving factors,
associated symptoms, previous episodes?
▪ Any associated nausea, vomiting, clamminess, palpitations, fainting?
▪ What are you usually doing when they happen? Have you ever had them at rest or related to
eating?
▪ Any pain in the legs when you walk?
▪ Any shortness of breath, breathlessness lying flat, waking up at night very short of breath or
ankle swelling?
▪ Have you noticed any rashes on the chest or is it painful to touch the chest?
▪ Do you have any other medical problems – specifically, high blood pressure, high cholesterol,
diabetes, previous heart attacks or strokes?
▪ Do you have any family history – specifically of heart problems or strokes? If so – how old were
your relatives when this happened?
▪ Do you smoke? Drink alcohol? Take recreational mediations?
▪ What do you work as? How have the chest pains affected your work or family life?
▪ Do you have any particular concerns about what this may be, or any specific questions that you
would like me to answer?
▪ Cardiac: Angina (stable or unstable), myocardial infarction, coronary spasm, aortic stenosis and
other valvular disease or HOCM. If a single acute episode also think about pericarditis and aortic
dissection.
▪ Haematological: Anaemia.
▪ GI: GORD, oesophageal spasm, achalasia, cholecystitis and gallstone disease.
▪ Respiratory: Pulmonary embolism, pneumothorax, pleurisy, lower respiratory tract infection.
▪ Musculoskeletal: Rib fracture, muscle damage, costochondritis.
▪ Cutaneous: Shingles.
Systems to examine:
▪ Pulses: Heart rate and rhythm, consider feeling lower limb pulses if symptoms of PVD reported
and you have time.
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▪ Heart: Apex beat position, heaves or thrills, heart sounds, added sounds, murmurs.
▪ Respiratory: Listen for crepitations indicative of heart failure, and consider alternative diagnoses
such as bronchial breathing or pleural rub, ensure the calves are soft and non-tender.
▪ Abdominal: Feel the epigastrium and right upper quadrant for any tenderness.
Investigations:
▪ Bedside tests: Blood pressure (raised), electrocardiogram (left ventricular hypertrophy, atrial
fibrillation), urine dipstick (proteinuria, glycosuria), fundoscopy (hypertensive
retinopathy), finger prick blood glucose (diabetes).
▪ Bloods: Fasting glucose (diabetes), HbA1c (diabetes), cholesterol

profile (hyperlipdaemia), U&Es (renal impairment), FBC (anaemia), TFTs (thyroid
dysfunction), LFTs (prior to starting statins).
▪ Imaging: Chest radiograph (if features of heart failure), echocardiogram (if murmurs or features
of heart failure).
▪ Special tests: Cardiac catheterisation (to confirm diagnosis, and consider balloon angioplasty or
stenting) – if not tolerate or deemed of lower risk according to NICE guidelines, offer the patient
non-invasive functional cardiac imaging such as myocardial perfusion scintigraphy or stress
echocardiography.
Treatment:
▪ Non-pharmacological: Education and signpost to support groups, warn about the features that
would indicate the need to seek urgent medical attention (chest pain lasting >20 minutes, not
responding to GTN, unpredictable bouts of angina), warn that they should not drive if symptoms
occur unpredictably/at rest/with emotion/at the wheel (but DVLA do not need to be notified,
their insurer may do), smoking cessation, maintain healthy weight, healthy diet, exercise,
cardiac rehabilitation (following revascularisation).
▪ Medical: GTN spray for acute episodes, beta blocker or calcium channel blocker are 1st line for
angina, add in long acting nitrates or ivabradine or nicorandil or ranolazine; unless
contraindicated start aspirin 75mg PO OD (or clopidogrel), a statin and consider ACEi (especially
if diabetic).
▪ Surgical: Coronary revascularisation (CABG or percutaenous transluminal angioplasty).
Questions:
1. What would you tell a patient asking about sexual activity? Ok as long as they can walk up down
two flight of stairs briskly, and avoid sildenafil and similar drugs, if pain develops during sex –
stop.
2. How would you manage a patient with suspected acute coronary syndrome? I would perform an
ABCDE assessment as this is a medical emergency – I would give oxygen to maintain saturations,
obtain a chest radiograph to rule out heart failure, mediastinal widening or differentials such as
consolidation; I would request blood pressures in both arms to ensure there was no significant
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discrepancy, perform a 12 lead electrocardiogram looking for ST changes, LBBB, q waves and
arrhythmias, obtain IV access and send bloods for baseline and 12 hour troponin, haemoglobin,
venous gas, glucose, cholesterol and renal function; I would take a history and perform a full
systems examination. If the diagnosis of ACS was confirmed with chest pain, suggestive ECG
changes and/or troponin rise I would give 300mg aspirin, and analgesia and antiemetics with
GTN spray, morphine and metoclopramide, and ensure they were on a cardiac monitor given
the arrhythmic risk. If it was a STEMI I would liaise urgently with the nearest PCI team. If it was
an NSTEMI or unstable angina it would risk stratify with the GRACE score which predicts 6
month mortality and utilise this to guide further investigations and management – specifically
the need for early angiography, clopidogrel, anti-thrombin agents and glycoprotein IIb/IIIa
agents. Other agents to commence the patient on if not already taking are beta blockers, ACE-I
and a statin.
3. Which medications are prone to causing oesophagitis? NSAIDs, doxycycline, bisphosphonates.
4. Which medications relax the lower oesophageal sphincter and predispose to reflux? Nitrates,
calcium channel blockers, and anti-cholinergics including tricyclic anti-depressants.
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Palpitations
If regular:
▪ Sinus tachycardia: Anxiety, alcohol excess, caffine excess, recreational drugs, anaemia, infection,
thyrotoxicosis, phaeochromocytoma, hypoglycaemia.
▪ Supraventricular tachycardia: AVNRT (commonest), AVRT (eg: WPW), atrial tachycardias.
▪ Torsades de pointes secondary to long QT syndromes: Congenital, drug induced (e.g.:

erythromycin, ketoconazole, tricyclics), low magnesium/potassium/calcium.
▪ Ventricular tachycardia.
If irregular:
▪ Atrial fibrillation.
▪ Extrasystoles.
Dermatitis Herpetiformis
Coeliac’s disease
Investigations:
▪ Bedside tests:
▪ Bloods: FBC (anaemia, raised RDW), haematinics (low folate, low iron), bone profile and vitamin
D (vitamin D deficiency), clotting (vitamin K deficiency), IgA anti-tissue transglutaminase
antibodies (false negatives if on gluten free diet, or if IgA deficient), consider testing for other
autoimmune conditions if symptoms present.
▪ Imaging: Endoscopic evaluation and biopsy (villous atrophy, crypt hyperplasia, intraepithelial
lymphocytes).
▪ Special tests: Skin biopsy (direct immunofluorescence for IgA deposition in the dermis).
Management:
▪ Non-pharmacological: Dietician referral (avoid gluten, can have rice, some can tolerate low
intake of oats).
▪ Medical: Prescribe gluten free foods, emollients, emollients, dapsone (with close haematological
monitoring, consider G6PD deficiency testing first).
Diabetic Skin Disease
Scenarios: Skin rash, itchy skin, skin ulcer, diabetic follow up.
Questions to ask:
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▪ When did you first notice the rash, how did it start, how has it progressed, have you had
anything like it before, is it painful or itchy, have you had any investigations or treatment for it?
▪ How long have you had diabetes for, how well are your sugars controlled, do you take tablets or
insulin, do you check you sugars at home, who manages your diabetes, do you know if it’s
affected your eyes, kidneys or nerves?
▪ Have you had any other symptoms during this time – fever, weight loss, night sweats, lumps or
bumps elsewhere, joint pains, problems with you bowel, bladder or breathing?
▪ Do you develop pain in the legs on walking, what distance can you walk before this happens,
does you ever get the pain when you are lying flat in bed?
▪ Do you have any other medical problems and are you on any medications?
▪ Any allergies?
▪ Any family history of any skin conditions?
▪ Have you been abroad recently?
▪ How have these symptoms affected your day to day life?
Patterns of skin disease:
▪ Diabetic ulcer: Painless, deep ulcers over pressure areas associated with a combination of
peripheral neuropathy and peripheral vascular disease. Need a combination of weight relieving
aids, dressings, antibiotics, and good glycaemic control.
▪ Granuloma annulare: Round, annular, non-tender and non-pruritic skin coloured lesions; often
on dorsum of hands, feet and elbows.
▪ Diabetic dermopathy (“shin spots”): Round, atrophic lesions on the pre-tibial area. Become
pigmented due to haemosiderin deposition. Usually multiple and bilateral and may heal with
scarring.
▪ Necrobiosis lipoidica diabeticorum: Well demarcated, tender orange-brown patches with central
epidermal atrophy and a waxy appearance with overlying telangiectasiae. Grow slowly on the
pre-tibial area, tendency to ulcerate if injured with risk of secondary infection. Skin biopsy
shows a granulomatous reaction to collagen. Can use topical or intralesional steroids.
▪ Diabetic cheiroarthropathy: Seen in longstanding type 1 diabetes, sclerodactyly with limited

joint mobility, thickened and waxy skin.
▪ Diabetic bullae: Spontaneous and typically non-scarring sterile bullae which can become
secondarily infected. Typically affect hands and feet.
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▪ Acnathosis nigricans: Seen in insulin resistant states; on flexor surfaces, the neck and in the
axillae; there is velvety thickening and hyperpigmentation of the skin in discrete patches with
associated papillomatosis. Advise weight loss and rule out an underlying malignancy.
▪ Eruptive xanthomas: Seen in hyperglycaemia and hypertriglyceridaemia. Arise as crops of small,

yellow papules with an erythematous rim, often pruritic, resolve spontaneously over weeks.
▪ Vitiligo: Especially in type 1 diabetics as a co-existent autoimmune disease. Hypopigmented

patches, especially in sun-exposed areas.
Systems to examine:
▪ Cutaneous: Finger prick marks of glucose testing, injection site reactions (lipoatrophy or
lipohypertrophy), rashes as above, inspect within skin folds for candida and staph infections,
hair loss, xanthelasma.
▪ Cardiovascular: Palpate the radial, brachial, carotid, femoral, popliteal, posterior tibial and
dorsalis pedis pulses.
▪ Abdomen: Insulin pump, insulin injection sites for lipohypertrophy or lipoatrophy.
▪ Neurological: Glove and stocking sensory loss.
Investigations:
▪ Bedside tests: Finger prick glucose (raised), urine dipstick (glycosuria,

proteinuria), fundoscopy (dots, blots, hard exudates, cotton wool spots, new vessel
formation), ankle brachial pressure index (peripheral vascular disease).
▪ Bloods: FBC (anaemia in renal disease, raised WCC in infection or inflammation), U&Es (diabetic
nephropathy), fasting glucose (raised), HbA1c (raised), lipids (raised).
▪ Imaging: Duplex ultrasonography (to identify stenosis, and lengths of occlusions).
▪ Special tests: Skin biopsy (if underlying cause unclear).
Management:
▪ Non-pharmacological: Education, diabetic specialist nurse support.
▪ Medical: Depends on cause but generally to support good glycaemic control (but not always, for
example it has no effect on necrobiosis lipoidica) and optimise other cardiovascular risk factors,
and consider the need for steroids (eg. In necrobiosis lipoidica), antibiotics, dressings etc.
▪ Surgical: May be required.
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Eczema
Scenarios: Itchy, skin rash.
Questions to ask:
▪ When did you first notice the rash, where did it start, how has it changed since then, does it
come and go, does it seem worse at particular times of year, is it worse before your period or in
pregnancy?
▪ Have you ever had anything like it in the past, any hayfever, asthma, skin allergies when you
were younger?
▪ Does anyone in the family have any of those problems?
▪ Is there anything else you see a doctor for? Any previous operations?
▪ Are you taking any medications at the moment? Any allergies?
▪ Any other medical problems run in the family?
▪ What do you do for a living – does that involve any chemicals or anything that you think may be
irritating your skin?
▪ Who’s at home with you, any pets?
▪ Any change in bath products or washing liquids or anything like that recently?
▪ Do you smoke, ever smoked, drink alcohol or take recreational drugs?
▪ How has your mood been recently?
▪ Do you have any particular worries or questions for me today?
Systems to examine:
▪ Cutaneous: Look for the different possible types – atopic (often flexural location),
erythrodermic, contact/irritant, pompholyx, discoid, varicose; and then look for key features
such as erythema and lichenification, fissuring, excoriations, generally dry skin, and any
evidence if possible infection (eg: weeping and crusting of staph aureus, vesicles and erosions of
herpeticum, with the latter being an indication for admission).
▪ Irritant contact dermatitis: Beneath watch straps, under earrings or contact points of belts or
jewellery, on specific finger tips (eg: chefs and garlic).
▪ Psoriasis: Particularly the flexural form of psoriasis, look for suggestive nail changes or
involvement in other areas such natal cleft or umbilicus or hairline.
▪ Discoid lupus: Erythematous scaly patches, mostly in sun exposed areas, which heal with
pigmentation, scaring and alopecia.
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▪ Infective: Intertrigo (candidiasis within a skin fold), tinea (dermatophyte fungal infections that
usually are erythematous with minimal overlying scale and an annular raised edge), and scabies
(look interdigitally, very itchy, excoriations).
Investigations:
▪ Bedside tests: MCS and viral swabs (exclude superadded infection).
▪ Special tests: Biopsy (spongiosis, keratosis, inflammatory infiltrate).
Management:
▪ Non-pharmacological: Educate, supplementary written information, support groups,

involvement from General Practitioner and dermatologist as required, avoid precipitants and
allergens if appropriate, avoid irritants in clothing such as synthetic materials and woollen
clothes.
▪ Medical: Topical – emollients (apply often and liberally, especially if features of a flare starting
with increased irritability, dryness, redness and swelling), with wrapping to improve absorption,
steroids, tacrolimus; phototherapy; or oral therapy like prednisolone or steroid sparing agents
like cyclosporin, antibiotics and anti-virals if infected.
Questions:
1. What is the difference between skin prick testing and patch testing? Skin patch tests are typically
used to detect contact allergens which are causing an irritant dermatitis, whilst skin prick test
are used to identify other allergens including inhaled ones that may be contributing to asthma
or hayfever symptoms.
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Erythema Nodosum
Scenarios: Tender rash.
Questions to ask:
▪ When did it start, where did it affect first, how has it progressed, it is painful or itchy, have you
ever had anything like it before?
▪ Can you think of anything that might have triggered it – any sore throats?
▪ Any other problems – fever, night sweats, weight loss, lumps or bumps elsewhere, ulcers in the
mouth or down below, shortness of breath, cough, sputum, blood in sputum, joint pain,
diarrhoea?
▪ Any red eyes, problems with your vision or eye pain?
▪ Any other problems you see a doctor for, ever had any operations?
▪ Are you on any medications? Were there any new medications around the time this problem
started? Are you on any hormonal contraception?
▪ Any conditions that run in the family?
▪ Have you ever had or been in contact with tuberculosis? Did you have the BCG vaccination as a
child?
▪ Is there a chance you could be pregnant?
▪ Do you have any particular questions or worries you would like me to address today?
Systems to examine: For this routine start by examining the legs, then once your happy that this is
erythema nodosum, move to the hands looking for any evidence of arthropathy, then look inside the
mouth for tonsillitis and ulcers, lean them forward and feel for enlarged parotids and cervical nodes,
then listen to the posterior aspect of the chest, then sit them back and listen at the apices, especially if
older lie them flat and feel for an enlarged spleen and liver.
▪ Cutaneous: Raised, erythematous tender nodules which progress into violaceous purpura.
▪ Oral cavity: Enlarged and erythematous tonsils and uvula, ulcers.
▪ Haematological: Cervical lymphadenopathy.
▪ Respiratory: Asymmetry, percussion note, and auscultation – focus on the anterior chest as
upper lobe pathology is the most likely given the possible underlying differentials.
▪ Idiopathic.
▪ Hormonal: Oral contraceptive pill, pregnancy.
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▪ Infectious: Tuberculosis, streptococcal infection, Lyme’s disease, leprosy.
▪ Rheumatological: Sarcoidosis, rheumatoid arthritis, Behcet’s disease.
▪ Gastrointestinal: Inflammatory bowel disease.
▪ Haematological: Lymphoproliferative disease.
▪ Mimics: Insect bites, urticaria, purpura.
Investigations:
▪ Bedside tests: Oxygen saturations (pulmonary disease), sputum samples (if sputum – MCS and
AFBs), throat swab (streptococcus), pregnancy test (occasional cause), stool sample (if diarrhoea
– MCS).
▪ Bloods: FBC (anaemia, raised white cell count), CRP/ESR (may be raised), anti-streptolysin O
titre (strep throat), blood film/LDH (lymphproliferative disease), autoimmune panel including
ACE, rheumatoid factor and ANA (autoimmune disease).
▪ Imaging: Chest radiograph (bihilar lymphadenopathy, pulmonary infiltrates, apical lesions).
▪ Special tests: Skin biopsy (panniculitis, non-caeseating granulomas), high resolution CT chest (as
for the chest radiograph), bronchoalveolar lavage (if TB suspected but sputum negative),
mantoux or interferon gamma release assay (if no positive AFB or culture sample but diagnosis
of TB still suspected).
Management:
▪ Non-pharmacological: Education, re-assurance.
▪ Medical: Paracetamol, NSAIDs, otherwise treatment of the underlying cause if required; steroids
occasionally used but ensure underlying infection excluded.
Hypopigmentation
Vitiligo: Non-scarring, well demarcated hypopigmentary macules, particularly affecting sub exposed
areas. Wood’s light will accentuate the hypo pigmented patches and bright blue-white patches,
particularly on light skin where it can be difficult to visualise. Check the navel and scars, ask about
genital involvement to assess extent; inspect the hair bearing areas for associated loss of hair
pigmentation. Associated with other autoimmune conditions (pernicious anaemia, thyroid disorders,
addison’s, type 1 diabetes mellitus). Advise avoidance of sun exposure, high factor sun block, minimise
skin injury (Koebner phenomenon), monitor for other autoimmunity, refer to Changing
Faces Camouflage Service (camouflage cosmetics provider), topical steroids and calcneurin inhibitors,
ultraviolet therapy.
▪ Differential diagnosis: Conditions listed below, potent topical steroid use, post-inflmmatory
hypo pigmentation (e.g.: eczema).
Piebaldism: Autosomal dominant, local absence of melanocytes affecting skin and hair within that area,
many have a white forelock (area of white hair and scalp which may also affect the the eyebrows and
eyelashes), present from birth, doesn’t progress during life.
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Pityriasis Versicolor: Multiple macules across the trunk with surface scale, accentuated by tanning of
the surrounding skin, and appearing hypo pigmented on darker skins (though can appear pigmented on
those with pale skin). Under Wood’s Light they will fluoresce yellow-green. Non-contagious and caused
by malessezia furfur overgrowth, especially in hot and humid weather. Treated with ketonconazole
shampoo or selenium washes; or if particularly resistant, oral course itraconazole. Warn that recurrence
is common.
Discoid lupus: Multiple, erythematous, scaly and inflamed patches that heal with hypo pigmentation,
scaring, atrophy and alopecia; particularly affect sun exposed areas. Check their autoantibody profile
(e.g.: ANA, ENA, anti-dsDNA, RF) and inflammatory markers, and arrange biopsies with
immunofluoresence if there is diagnostic uncertainty. Advise avoidance of sun exposure, high factor sun
block, offer referral to the Changing Faces Camouflage Service (camouflage cosmetics), topical and
intralesional steroids, oral hydroxychloroquine. 5% progress to SLE so monitor for systemic features
(mouth ulcers, malar rash, serositis, renal failure, arthropathy, cytopaenias).
Tuberous Sclerosis: Ash leaf macules.
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Skin Cancer
Basal Cell Carincoma: Commonest non-melanoma skin cancer. Slowly, locally invasive, head and neck
and other sun-exposed areas. Transluscent, pearly, overlying telangiectasia, progressing to an indurated
rolled edge with an ulcerated centre. Check for local lymph node enlargement. Diagnostic or therapeutic
biopsy for histology +/- excision, either traditional surgery or Mohs micrographic surgery, curettage and
cautery, cryotherapy, topical imiquimod, photodynamic therapy, and radiotherapy.
▪ Gorlin’s Syndrome: Multiple basal cell cancers, autosomal dominant, associated with palm and
sole pitting, jaw cysts, cataracts, and spine and rib abnormalities.
Squamous Cell Carcinoma: Indurated, erythematous, nodular, keratinising, ulcerating lesions.

Metastasise to local lymph nodes. Risk factors include UV exposure, immunosuppression, chemical
carcinogens, human papilloma virus, chronic inflammation, genetic conditions (e.g.: xeroderma
pigmentosum, albinism), and pre-malignant conditions (e.g.: Bowen’s disease, multiple actinic
keratoses). Can be confused with BCCs, amelanotic malignant melanoma. Diagnose with incision or
punch biopsy. Utilises TNM staging, metastatic potential affected by site, size, depth, and concurrent
immunsuppression. Treated with curettage and cautery, topical imiquimod, cryotherapy, Mohs surgery,
and radiotherapy.
Malignant Melanoma: Ask the patient about personal history, family history, sun exposure, burning and
blistering particularly in childhood, type 1 and 2 skin, outdoor jobs, living in sunny countries in past, and
past sun bed use.There are four types:
▪ Lentigo Maligna: When a patch develops a nodule within it heralding deep invasion.
▪ Superficial Spreading: Large and flat, grows laterally then horizontally.
▪ Nodular: Rapidly growing pigmented nodule, can bleed and ulcerate.
▪ Differential: Amelanotic MM, pyogenic granuloma.
▪ Acral Lentiginous: Palm, sole, nail.
The dermatologist will examine under a dermatoscope, excise with at least a 2mm margin (and assess
Breslow thickness), and may do sentinel lymph node biopsies. Screen for spread with FBC, bone profile
and LFTs, and CT CAP. Staged via the TNM system. Treated with wide local excision, chemo
(dacarbazine) and sometimes radiotherapy.
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Ulcers
Scenarios: Leg ulcer, painful ulcer, slow to heal injured area.
Questions to ask:
▪ When did you first notice it, how did it start, how has it changed since then, what treatments
have you tried?
▪ Have you had any ulcers like this or elsewhere before?
▪ Is it painful or painless?
▪ Do you have any numbness, pins and needles, pain, or swelling in the feet and legs?
▪ Do you suffer from varicose veins, and if so have you ever had any treatments for these, any
blood clots in the legs before?
▪ Do you have any heart disease, diabetes, high blood pressure, high cholesterol, pain in the legs
when you walk, previous heart attacks or strokes or are you a smoker?
▪ Any joint pain, muscle pain, rashes, mouth ulcers, dry eyes and mouth, painful or white fingers in
the cold weather, change in bowel habit with blood, mucus or diarrhoea?
▪ Any other problems that you’ve seen a doctor for in the past, any previous operations?
▪ Are you on any medications at the moment, any creams being used, any bandaging of the legs
being used?
▪ Any medical problems that run in the family?
▪ Who’s at home with you and what do you work as?
▪ Any alcohol or recreational drugs?
▪ Any particular worries or questions for me today?
Systems to examine:
▪ Ulcer: Location, size, depth, painful or painless, evidence of infection, surrounding skin (atrophie
blanche, haemosiderin deposition, lipodermatosclerosis, warty hyperplasia, varicose veins; loss
of hair, callosities; purpuric rashes).
▪ Peripheral vascular and neurological: Feel the temperature, check capillary refill time, feel the
popliteal, dorsalis pedis and posterior tibial pulses, check joint position, vibration, soft touch and
sharp touch sensation looking for stocking distribution sensory loss.
▪ Geneal inspection for associated conditions: Arthropathy in the hands, digital ulceration and
ischaemic changes, livedo reticularis, abdominal distension (consider an abdo exam to rule out
pelvic masses causing compression, especially if asymmetrical changes of venous hypertension
are visible).
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▪ Venous ulcer: Gaiter area near the medical and lateral malleoli, large, superficial, relatively
painless.
▪ Arterial ulcer: Distal, over pressure areas, deep and punched out, painful.
▪ Neuropathic ulcer: Distal, sites of trauma, deep, painless; associated features of diabetes,
syringomyelia or tabes dorsalis (tertiary neurological syphilis).
▪ Necrobiosis lipoidica: Shins, red-brown, depressed and atrophic, telangiectasia, slowly enlarge,
can ulcerate if they encounter trauma, painful or painless depending on co-existing neuropathy.
▪ Haematological: Sickle cell (punched out, raised margins, deep).
▪ Rheumatological: Vasculitic (punched out, deep), pyoderma gangrenosum (initial pustule or

nodule, breaks down into an ulcer, violaceous edge, purulent appearance, painful, heals with
scarring).
Investigations:
▪ Bedside tests: Ankle brachial pressure index (asses for peripheral vascular disease as a cause or
prior to using compression bandaging), urine dipstick (glycosuria, proteinuria, haematuria), MCS
and viral swabs (superadded infection).
▪ Bloods: Depends on the underlying cause – arterial or neuropathic then do lipids, fasting
glucose; vasculitic or pyoderma do FBC, U&Es, ESR/CRP, autoimmune panel; if possibility of
sickle cell do haemoglobinopathy screen.
▪ Imaging: Plain radiographs or MRI or bone scan (if deep, and possibility of underlying infection
like osteomyelitis), venous and/or arterial dopplers (to asses vascular supply of the limb),
▪ Special tests: Biopsy (confirm cause, look for malignant transformation), patch testing (to rule
out allergies to creams and dressings being used).
Management:
▪ Non-pharmacological: Educate, supplementary written information, general beneficial lifestyle

measures (smoking cessation, exercise, healthy diet, weight loss), MDT approach (GP, tissue
viability nurse, district nurses, dermatologists), arrange medical photography so progress can be
monitored over time and between different teams involved in the patients care, dressings,
graduated compression bandaging.
▪ Medical: Treat the underlying cause or contributory co-morbidities, emollients, topical steroids.
▪ Surgical: Re-vascularisation, debridement, amputation, skin grafting.
Questions:
1. What would you think if an ulcer was slow to heal and how would you mange it? Re-asses the
diagnosis and the management of risk factors, consider the possibility of malignant change (ie:
Marjolin’s ulcer) or infection, consider if there is a contact hypersensitivity to the creams or
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dressings being used. Management would involve MCS and viral swabs, dermatology and tissue
viability nurse input, and consideration of biopsy or patch testing.
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Acromegaly
Scenarios: Joint pain, change in vision, bumping into things, change in appearance,
gloves/shoes/dentures not fitting, headaches.
Questions to ask:
1. Have you noticed a change in your appearance?
2. Have you noticed things not fitting anymore like rings, shoes, gloves or dentures?
3. Do you know if you snore at night – and if so, is this new or getting worse?
4. Have you had headaches, changes in your vision, or increased sweating?***These are key
questions as they are all indicators of active disease***
5. Have you been bumping into things at your side?
6. Have you experienced numbness or tingling in the hands or painful joints?
7. Is there any recent change in your bowel habit?
8. Have you noticed a change in your libido, problems having or maintaining erections or milk
production from your nipples?
9. Do you have any other medical conditions – diabetes, heart disease, bowel tumours?
10. What medications are you currently taking?
11. Are there any conditions which run in your family?
Systems to examine:
▪ Cutaneous: Oily skin, skin tags, acanthosis nigricans, fingerprick marks of blood glucose testing.
▪ Musculoskeletal: Coarse facial features, prominent supra-orbital ridge, enlargement of the ears
and nose, prognathism, macroglossia, spacing between the teeth, spade like hands, features of
carpal tunnel syndrome (scar from tunnel release, wasting of thenar eminence, weakness of
thumb abduction and opposition, sensory loss over lateral three and half digits, positive Tinel
and Phalen’s tests).
▪ Ocular: Bitemporal hemianopia.
▪ Cardiac: Irregularly irregular rhythm, displaced apex beat, 3rd heart sound, bibasal crepitations
on lung auscultation, peripheral pitting oedema.
▪ Thyroid: Multinodular goitre, galactorrhoea.
So for this routine you should start at the hands, ask them to shake your hand then turn them over
palms up and look for finger prick marks of diabetes testing, check for a carpal tunnel release scar and
look for thenar muscle wasting, establish if there is reduced sensation at the little finger vs the thumb
and check median motor function with resisted thumb abduction, utilise Phalens and tinels sign, then
move up the arms, check the pulse and ask for a blood pressure and go to the face where you should
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feel over the supra-orbital ridge, look from above and the side, and assess visual fields for the
bitemporal hemianopia, look inside the mouth for the interdental spacing and macroglossia, and then
ask them to raise their arms so you can see if there is acanthosis nigricans or skin tags, palpate the apex
beat and auscultate the heart.
▪ Pituitary tumour secreting GH or co-secreting GH and prolactin; these can be solitary of be part
of syndromes such a Multiple Endocrine Neoplasia Type 1, Carney complex or McCune Albright
syndrome.
▪ GHRH or GH production from mitotic lesions such as those in the hypothalamus or carcinoid
lesions.
▪ Cushing’s Syndrome: Thin skin, purpura, acne, hirsuitism, intrascapular fat pad.
▪ Hypothyroidism: Coarse facial features, dry skin, loss of outer third of eye brow, bradycardia,
slow relaxing reflexes.
Investigations:
▪ Bedside tests: Blood pressure (raised), electrocardiogram (left ventricular hypertrophy,

arrhythmias), finger prick glucose (may be raised), urine dipstick (glycosuria), fundoscopy (optic
nerve swelling or atrophy, features of diabetic and hypertensive retinopathy), review old
photographs (looking for changes in physical appearance over time).
▪ Bloods: Random growth hormone (raised), insulin-like growth factor 1 level (raised), oral glucose
tolerance test with growth hormone measurement (failure to suppress growth hormone
production), prolactin (1/3rd will have a tumour that over expresses both GH and
prolactin), thyroid function tests (to rule out hypothyroidism), LH/FSH (risk of hypopituitarism so
reduced GnRH or if prolactinoma), bone profile (hypercalcaemia of MEN1).
▪ Imaging: MRI pituitary with contrast (masses), echocardiogram (ventricular hypertrophy,

cardiomyopathy).
▪ Special tests: Goldman perimetry (to formally asses for field defects).
Management:
▪ Non-pharmacological: Education, support groups and information leaflets, physiotherapy and

occupational therapy.
▪ Medical: Somatostatin analogues like octerotide (2nd line, once monthly injections, stop GH
secretion, risk of gallstones); alternative 3rd line agents include dopamine agonists
(carbergoline), GH receptor antagonist (pegvisomant) and radiotherapy; optimise complications
such as heart disease, diabetes and obstructive sleep apnoea.
▪ Surgical: Endonasal transphenoidal surgery (1st line, risk of hypopituitarism or recurrence).
Questions:
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1. What is the commonest cause of acromegaly? Benign growth hormone secreting tumour of the
anterior pituitary called a somatroph adenoma; very rarely it is due to a pituitary carcinoma, or
a GHRH secreting carcinoid tumour or hypothalamic tumour.
2. What hereditary conditions pre-dispose to acromegaly?
▪ Carney complex: Autosomal dominant; myxomas of heart and skin, hyperpigmentation,

endocrine tumours.
▪ Familial isolated pituitary adenoma: Autosomal dominant with incomplete penetrance.
▪ Multiple endocrine neoplasia type 1: Autosomal dominant; parathyroid hyperplasia,

pituitary tumors, pancreatic endocrine tumours.
▪ McCune Albright syndrome: New mutations; bony abnormalities, cafe au lait patches,
overactivity of endocrine glands.
3. What test can be used to monitor response to treatment? Insulin-like growth factor 1 levels.
4. Which features on the history and examination indicate active disease? Headaches, sweating,
bitemporal hemianopia, hypertension, and hyperglycaemia.
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Addison’s Disease
Scenario: Tanned skin, change in skin colour, fatigue, abdominal pain, dizzy spells.
Questions:
1. Have you noticed a change in the colour of your skin – when did you first notice this, do you have
any photographs of what your skin was like before, have you been anywhere sunny recently, do
you have any scars and if so have any of these changed colour?
2. Have you been feeling more tired and lethargic?
3. Have you been feeling dizzy, especially when standing up, or have you experienced any fainting?
4. Have you had any chest pain or palpitations?
5. Have you had any stomach pain, loss of appetite or diarrhoea?
6. Have you had any fevers, night sweats, cough, weight loss, or have you noticed any lumps or
bumps anywhere?
7. Any joint pains or muscle aches?
8. Have your periods changed at all recently?
9. Do you have any other medical problems – have you had any operations or been to hospital
before?
10. Are you taking any medications?
11. Is there a family history of any problems, especially of the immune system?
12. Have you been in contact with tuberculosis or have you travelled abroad recently?
13. Do you smoke, drink or take recreational drugs?
14. How are the symptoms affecting your day to day life?
Systems to examine:
▪ Cutaneous: Tanned skin with hyperpigmentation visible particularly in the palmar creases,
pressure areas (e.g.: extensor aspect of elbows, under the bra or belt), scars, nipples and buccal
mucosa with areas not sun exposed also affected, sparse axillary hair; vitiligo, alopecia, scars
from previous tuberculosis treatment, evidence of previous peripheral auto-amputations
following meningococcal sepsis, finger prick glucose testing marks of diabetes, macroglossia,
candida of the skin or oral mucosa, thyroidectomy scar.
▪ Ears: Feel the ears – calcification of the auricular cartilage can occur in longstanding disease.
▪ Cardiovascular: Tachycardia.
▪ Haematological: Lymphadenopathy.
▪ Neurological: Bitemporal hemianopia, generalised muscle weakness.
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▪ Abdominal: Bilateral adrenalectomy scars, depression, anorexia, multisystem disease with

autonomic failure or anaemia.
▪ Iatrogenic: Exogenous steroid withdrawal with subsequent adrenal failure.
▪ Immune: Autoimmune adrenalitis (alone or with other organ specific autoimmune disease such
as vitiligo, pernicious anaemia, type 1 diabetes).
▪ Infectious: Mycobacterial (tuberculosis), bacterial (meningococcus), viral (AIDS), fungal

(histoplasmosis).
▪ Infiltrative: Sarcoidosis, amyloidosis, haemochromatosis.
▪ Haemorrhagic: Anti-coagulants, anti-phospholipid syndrome (+/- lupus).
▪ Congenital: Congenital adrenal hyperplasia.
▪ Mimics: Nelson’s Syndrome.
Investigations:
▪ Bedside tests: Blood pressure lying and standing (postural drop, hypotension), venous blood
gas (hyperkalemic metabolic acidosis, check lactate), finger prick glucose (hypoglycaemia), urine
dipstick (if no cause found, heavy proteinuria may suggest the nephrotic syndrome of
amyloidosis etc).
▪ Bloods: FBC (lymphocytosis, eosinophilia), U&Es (hyponatremia, hyperkalemia, raised

urea), morning cortisol (low), synacthen test (give tetracosactide and measure cortisol before
and at 30 and 60 minutes, fails to stimulate cortisol production), ACTH (to identify pituitary
issues), TFTs (may have co-existing thyroid dysfunction, either due to autoimmunity or pituitary
failure), prolactin (may be raised in prolactinoma), LH/FSH (may be low if pituitary failure), bone
profile (hypocalcaemia due to hypoparathyroidism in APS 1, or hypercalcaemia related to the
Addison’s).
▪ Imaging: Chest radiograph (underlying tuberculosis, sarcoidosis, malignancy), abdominal x-

ray (adrenal calcification).
▪ Special tests: Depends on presentation but consider anti-21 hydroxylase

antibodies (autoimmune adrenalitis) and further imaging and autoimmune screening.
Management:
▪ Non-pharmacological: Education, medic alert bracelet or warning card, sick day rules, support
groups, caution when starting new medications like enzyme inducers in these patients that may
increase clearance of steroids.
▪ Medical: Acutely the patient will likely require aggressive resuscitation measures (0.9% saline,
5% dextrose) and steroids (IV hydrocortisone). Chronically glucocorticoids (oral hydrocortisone
20mg am, 10mg pm), mineralocorticoids (oral fludrocortisone) and sometimes androgens.
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▪ Surgical: Endonasal transphenoidal pituitary surgery if pituitary adenoma is the cause.
Questions:
1. Which other conditions can give a generalised increase in pigmentation? Sun exposure,
Addison’s, Nelson’s, Cushing’s disease, haemochromatosis and other iron overload states, liver
and renal failure, and medications (amiodarone, minocycline).
2. What are the polyglandular autoimmune syndromes?
▪ Type 1: Autosomal recessive AIRE gene mutation which causes immunodeficiency

leading to chronic mucocutaneous candidiasis in addition to Addion’s disease,
hypoparathyroidism and other organ specific autoimmune diseases.
▪ Type 2: Addison’s disease, type 1 diabetes, hypo or hyperthyroidism.
3. What are key points to address when counselling a patient with Addison’s disease?
▪ Sick day rules: Double the dose of oral steroid for fever over 37.5 or infection requiring
antibiotics, if vomiting use the 100mg emergency hydrocortisone injection and seek
medical advice urgently, they should be registered with their local ambulance trust so
that any call-outs are given emergency priority.
▪ Strenuous exercise (ie: marathon): A team mate should know how to administer
emergency hydrocortisone via injection in case of serious injury, they may need to
increase their steroid dose for heavy exercise.
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Charcot Foot
Scenarios: Pain in the foot, numbness in the foot, shoes not fitting, deformity of the foot.
Questions to ask:
▪ When did you first notice you were having problems with your foot, how has it progressed, have
you seen anyone about it?
▪ Do you experience numbness or pins and needles in the feet, does it affect the hands too, how
does this affect your walking, any falls?
▪ Have you had any ulcers – painful or painless, any infected ulcers, any antibiotic courses?
▪ Do you get pain in the calves or the chest when you walk, how long can you walk before this
happens, does it get better with rest?
▪ Any back pain, any problems with bowels or bladder?
▪ What other medical conditions do you have – with regards to the diabetes, when was it
diagnosed, how, by who, who follows you up for this, do you see a podiatrist, do you get photos
taken of your eyes, do you know of any problems with the eyes/kidneys, do you monitor your
own sugars at home, how good do you think your sugar control is?
▪ What medications are you taking? Have you always been on this treatment for your diabetes or
has it changed? Any allergies?
▪ Any problems run in the family, anyone else in the family had nerve problems?
▪ Do you smoke (ever smoked), drink alcohol, or take recreational drugs?
▪ How are the symptoms affecting your day to day life?
▪ What do you understand has caused the changes in your foot?
▪ What are your concerns about the changes?
Systems to examine:
▪ Cutaneous: Hair loss, ulcers, gangrene, amputations, pes planus, rockerbottom foot.
▪ Vascular: Capillary refill time, dorsalis pedis, posterior tibial.
▪ Neurological: Soft touch, sharp touch, joint position, vibration sense, proprioception, reflexes
and plantars.
▪ Endocrine: Diabetes.
▪ Infectious: Syphilis (tabes dorsalis), leprosy.
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▪ Spinal: Syringomyelia (if upper limb joint affected).
▪ Hereditary: Charcot Marie Tooth.
Investigations:
▪ Bedside tests: Dipstick urine (protein, glucose), fundoscopy (retinopathy), blood

pressure (hypertension), BMI (raised), electrocardiogram (left ventricular hypertrophy,
ischaemic changes), ankle brachial pressure index with handheld doppler (peripheral vascular
disease).
▪ Bloods: HbA1c (raised), U&Es (nephropathy), lipid

profile (hyperlipidaemia), LFTs (NASH), haematinics (B12), syphilis serology (tabes dorsalis).
▪ Imaging: Plain radiograph foot and ankle (fractures, ankylosis, dislocations), MRI foot and
ankle (as before, soft tissue oedema, marrow oedema).
▪ Special tests: Nerve conduction tests (axonal or demyelinating type pattern).
Treatment:
▪ Non-pharmacological: Education (due to poor glucose control over many years, likely to mean
that there is also damage to the eyes and kidneys; long term risks include skin and bone
infections, amputations, kidney failure and blindness), healthy lifestyle changes (exercise, diet,
weight loss, smoking cessation, reduce alcohol intake), podiatry referral, orthotics referral, total
contact cast followed by a bespoke shoe.
▪ Medical: Amend anti-diabetic medications, consider bisphosphonates, optimise other

cardiovascular risk factors including hypertension and hyperlipidaemia.
▪ Surgical: Amputations.
Questions:
1. How does an acute Charcot Joint present and how would you manage it? Acutely, red, hot,
swollen foot in an individual with peripheral sensory neuropathy such as secondary to diabetes.
Plain radiographs and MRI can show changes (fractures despite no trauma history), though the
former may be normal in early disease. You need to offload the foot in a total contact cast for 3-
6 months and advise to avoid weight bearing. After this time, convert to an individualised shoe
from the orthotics department. Some advocate the use of bisphosphonates.
2. What is the differential diagnosis of an acute Charcot Joint? Cellulitis, arthritis (crystal, septic,
inflammatory), trauma (fracture, sprain), deep vein thrombosis.
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Cushing’s Syndrome
Scenarios: Fatigue, weight gain, difficult to control high blood pressure, acne, increased hair growth,
menstrual irregularities, problems conceiving.
Questions to ask:
▪ Have you been feeling more tired and lethargic recently?
▪ Have you been feeling weak, especially when it comes to getting up from a chair or climbing
stairs?
▪ How has your mood been – have you felt low or upset more than usual or are having trouble
sleeping?
▪ Have you noticed any changes in your appearance such as acne, increased hair growth or weight
gain?
▪ Have you been more thirsty than usual, and passing water more often?
▪ Have you had any infections in the last few months – for example, skin infections, urine
infections or thrush?
▪ Have you had any pain in your muscles, joints, or back and have you broken any bones (if so –
what was the mechanism)?
▪ Have you had your blood pressure and sugars measured recently?
▪ Have you had any cough, coughing up blood, or chest pain?
▪ Do you have any other medical problems or have you undergone any surgery?
▪ Are you on any medications – especially steroids – even creams, inhalers, or nasal sprays, or
short oral courses within the last few months?
▪ Are there any conditions that run in your family?
▪ Do you drink alcohol or smoke?
▪ How are your current symptoms affecting your day to day life?
Systems to examine:
▪ Cutaneous: Raised BMI, thin skin, pigmented skin, lentigines, finger prick blood glucose
marks, purpura, acne, plethoric face and facial fullness, xanthelasma, hirsuitism, inter scapular
and supraclavicular fat pads, violaceous striae at sites of weight gain, acanthosis nigricans,
bilateral adrenalectomy scars (usually posterior).
▪ Neurological: Proximal myopathy, bitemporal hemianopia.
▪ Musculoskeletal: Spinal tenderness or kyphoscoliosis (osteoporosis, crush fractures).
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So for this routine you would start at the hands looking for thin skin and easy bruising then turning them
palm side up and looking for diabetic testing marks, carpal tunnel release scars, thenar atrophy,
weakness of thumb abduction, reduced sensation of the lateral 3 and a half fingers and positive Phalens
and tinels tests; I would then scan up the arm and request a blood pressure, inspect the hair for loss,
and the face for acne, plethora and facial fullness, then ask them to place their hands behind their head
evaluating for acanthosis nigiricans then asking them to stand from sitting with their arms across their
chest to asses for proximal myopathy. To finish I would get them to sit forward and percuss down the
spine for tenderness or kyphosis suggestive of osteoporosis and double check that there aren’t any
adrenalectomy scars.
▪ Iatrogenic: Steroids – so look very carefully for features suggestive of a chronic arthritis, lupus,
COPD, skin disease etc that may warrant long term steroids.
▪ Adrenal: Adrenal hyperplasia, adrenal adenoma, adrenal carcinoma.
▪ Pituitary: Adenoma (“Cushing’s disease”), carcinoma.
▪ Hypothalamic: Adenoma.
▪ Ectopic ACTH/CRH: Small cell lung cancer, bronchial carcinoid and other neuroendocrine
tumours in the abdomen, medullary cell thyroid cancer.
▪ Mimics: Pseudo-Cushing’s (depression, alcoholism, obesity), hypothyroidism, late pregnancy.
Investigations:
▪ Bedside tests: Blood pressure (raised), finger prick glucose test (raised), urine
dipstick (glycosuria), venous blood gas (hypokalemic metabolic alkalosis,
hyperglycaemia), review of old photos (examine for changes in appearance over
time), pregnancy test (can mimic), electrocardiogram (LVH criteria), fundoscopy (cataracts).
▪ Bloods: Low dose dexamethasone suppression test (unsuppressed, confirms cortisol excess), 24
hour urinary cortisol (raised, confirms cortisol excess), U&Es (hypokalemia), FBC (increased
infection risk so look at WCC), fasting glucose (raised), HbA1c (raised), lipids (raised).
▪ Imaging: CXR (underlying lung lesion), echocardiogram (if features of cardiac dysfunction).
▪ Special tests: ACTH (high suggests pituitary source), high dose dexamethasone suppression
test (suppressed suggests adrenal cause, unsuppressed suggests ectopic
source), CRH (hypothalamic source or ectopic), MRI pituitary (for mass lesion but
?incidentaloma), bilateral inferior petrosal sinus sampling (to confirm that excess ACTH is
coming from pituitary source and not ectopic), CT abdomen (adrenal mass, adrenal hyperplasia,
ectopic sources like neuroendocrine tumours in pancreas), CT chest (pulmonary lesion and
metastases), somatostatin receptor scintigraphy (for neuroendocrine tumours), USS
thyroid (identify possible medullary cell lesions for FNA), PRKAR1A mutation analysis (Carney
complex); dual energy x-ray absorbiometry (DEXA; to asses for osteoporosis).
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*Example…I would like a baseline panel of blood tests looking for features such as a hypokalemic
metabolic alkalosis however the specific tests for Cushing’s are to first confirm hypercortisolism with
either a 24 hour urinary cortisol measurement or low dose dexamethasone suppression test looking for
failure of suppression. I would then proceed to localise the source by measuring the ACTH
and considering a high dose dexamethasone suppression test – the latter would typically show
suppression in a pituitary cause, but not in cases of adrenal or ectopic secretion. Further tests based on
these findings include bilateral inferior pertrosal sinus sampling and imaging.
Management:
▪ Non-pharmacological: Education, support regarding physical changes, smoking cessation advice,

optimising modifiable cardiac risk factors, warn regarding side-effects of reducing their cortisol
level (malaise, joint pains etc, and possibility of addisonism post-treatment); if iatrogenic, review
patient and liaise with specialists if required to slowly wean down steroid dose and/or to
consider steroid sparing agents.
▪ Medical: Somatostatin analogues (octerotide), anti-glucocorticoids (metyrapone, ketoconazole;

adjuvant therapy for adrenal carcinoma), optimise co-morbidities especially cardiovascular, may
need post-operative or post-radiotherapy hormone replacement,
▪ Surgical: Removal of the underlying tumour or adrenelecomy (first line), radiotherapy
Questions:
1. What is Carney complex? Autosomal dominant condition, multiple lentigines, atrial myxoma,
adrenal overproduction of cortisol leading to Cushing’s syndrome.
2. What is Nelson’s syndrome? Can occur in patients who have undergone bilateral adrenalectomy
leading to the unmasking of a pituitary adenoma which in the absence of any negative feedback
rapidly expands in size. Suspect if the patient becomes very pigmented, has headaches, and
starts bumping into things. They should be monitored post-operatively with serial ACTH levels
and MRIs.
3. What are the commonest causes of Cushing’s syndrome? Most cases are due to exogenous
steroids. Of those caused by endogenous cortisol excess, the commonest cause is an ACTH
secreting pituitary adenoma (Cushing’s disease).
4. Patients with many endocrine diseases are at risk if osteoporosis, what is the definition of this
term? It is defined as a bone density if more than 2.5 standard deviations below the mean value
for an adult of the same gender and race (ie: T score > -2.5).
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Hyperthyroidism
Scenarios: Weight loss, anxiety, tremor, palpitations, diarrhoea, menstrual irregularities.
Questions to ask:
▪ Have you noticed a swelling in your neck – any problems with swallowing, breathing, or have you
noticed your voice becoming husky?
▪ Do you tend to feel anxious, restless and hot recently?
▪ Have you lost any weight and if so – is this despite a normal or increased appetite?
▪ Have you noticed any skin changes?
▪ Have you experienced tremors, palpitations or shortness of breath?
▪ Have you noticed a change in the appearance of your eyes, double vision, changes in how you
see colours, or eye pain? Does the red and green of traffic lights look as distinct to you at the
moment?
▪ Have you been feeling weaker – for example, have you found it difficult getting out of a chair or
going up a flight or stairs?
▪ Have you had diarrhoea?
▪ Have your periods been lighter than normal?
▪ Do you have any other medical conditions? Do you have asthma (as you will want to use a beta
blocker)?
▪ What medications are you on?
▪ Are there any conditions that run in your family?
▪ Are you pregnant or planning to conceive a family? Do you have children at home (will affect
your feelings about radio iodine)?
▪ Do you smoke?
Systems to examine:
▪ Cutaneous: Palmar erythema, tar staining, thyroid acropachy, tremor of outstretched hands,
slim, sweaty, restless, pre-tibial myxoedema.
▪ Ocular: Exophthalmos, lid retraction, conjunctival injection, exposure keratitis, chemosis,

tarrsorrhaphy, ophthalmoplegia, lid lag, red desaturation, relative afferent pupillary
defect. Note that lid lag and lit retraction are just features of hyperthyroidism and are not
specific to Grave’s.
▪ Neck: Goitre – smoothly enlarged, multi-nodular or single nodule; thyroid bruit, presence or
absence of retrosternal extension and lymphadenopathy.
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▪ Cardiovascular: Tachycardic, irregularly irregular pulse, systolic flow murmur.
▪ Neurological: Proximal myopathy, brisk reflexes.
▪ Iodine abnormalities: Iodine excess (Job Badestow effect).
▪ Iatrogenic: Amiodarone, levothyroxine.
▪ Thyroid: Single nodules, multi-nodular goitre, post-partum thyroiditis, De Quervain’s/subacute

thyroiditis.
▪ Ectopic: TSH secretion from pituitary mass, TRH secretion from hypothalamic mass, ectopic TSH
production from struma ovari (ovarian teratoma containing thyroid tissue) or beta hcg
production from hydatidiform mole or choriocarcinoma.
Investigations:
▪ Bedside tests: Electrocardiogram (sinus tachycardia, arrhythmia), pregnancy test (for

interpretation of results, and implications on treatment), blood pressure (can cause
hypertension), temperature (can cause fever), visual acuity and fundoscopy (if not done already
to asses for sight threatening disease; papilloedema, optic atrophy).
▪ Bloods: TFTs (low TSH, high T4), anti-thyroid peroxidase (positive), anti-
thyroglobulin (positive), anti-TSH receptor antibodies/TRAbs (positive).
▪ Imaging: Not routinely required. Echocardiogram (if features of high output cardiac
failure), radio-iodine scan (to identify hot nodules or diffusely low uptake of De Quervains vs
high uptake of Grave’s).
Management:
▪ Non-pharmacological: Education, smoking cessation.
▪ Medical: Beta blockers (i.e.: propanolol), eye drops, lubricants and selenium supplementation;
carbimazole, propylthiouracil (for 1st trimester pregnancy), occasionally block and replace is
used with thyroxine (for example – in someone with significant eye disease). Treat for 18
months then review.
▪ Surgical: Radio-iodine, subtotal thyroidectomy.
Questions:
1. What other conditions can mimic Grave’s ophthalmopathy? Peri-orbital oedema in

hypothyroidism and the nephrotic syndrome, orbital/optic nerve mass/cavernous sinus mass.
2. What are the problems with treating a patient with radio-iodine? Eye disease can get worse
precipitating malignant Grave’s eye disease, and cannot be used in pregnancy, breastfeeding, or
those with iodine allergy; patients remain radio-active following treatment. Because of the latter
they should avoid close contact with other people for 12 days, and with pregnant women and
children for 30 days. Those with urinary incontinence will need a catheter inserted.
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3. How would you manage a patient with severe Grave’s ophthalmopathy? Advise smoking
cessation, discuss urgently with ophthalmology regarding possible treatments which could
include high dose steroids, radiotherapy or surgical decompression.
4. What are the long term risks of hyperthyroidism? Heart failure, arrhythmias,
hypertension, osteoporosis.
5. What are the risks of carbimazole and propylthiouracil? Agranulocytosis.
6. Why does eye disease develop in Grave’s? Glycosaminoglycan deposition in the skin and extra-
ocular muscles.
7. What would be the indications for urgent admission/referral in those with thyroid
disease? Psychosis, fast atrial fibrillation or heart failure, or very dehydrated secondary to
severe diarrhoea, goitre causing dysphagia or difficulty breathing, and someone with thyroid eye
disease and reducing visual acuity, change in colour vision, opthalmoplegia, optic disc swelling
or if sudden and progressive.
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Hypothyroidism
Scenarios: Fatigue, constipation, menorrhagia, weight gain, hair loss, dry skin, tingling in the hands.
Questions to ask:
▪ Have you been feeling more tired and lethargic recently?
▪ Have you had a low mood or felt that your memory isn’t as good as it used to be?
▪ Have you been sleeping well – does your partner say that you snore or stop breathing at any
times at night?
▪ Do you tend to feel cold all the time?
▪ Do you have muscle pains?
▪ Have you experienced weight gain or any changes in your skin or hair?
▪ Have you had any constipation?
▪ Have your periods been heavier than normal?
▪ Have you noticed any lumps in your neck – if so, have you experienced difficulty breathing,
difficulty swallowing or pain?
▪ Do you have any other medical conditions?
▪ Are you on any other medications?
▪ Are there any conditions that run in the family?
▪ How is this affecting your day to day life?
Systems to examine:
▪ Voice: Hoarse, deep, cognitive slowing.
▪ Neck: Goitre, previous thyroidectomy scar.
▪ Cutaneous: Raised BMI, dry skin, puffy hands and face, pale palmar creases and conjunctival
pallor, hair loss, loss of outer third of the eyebrow, peri-orbital oedema, xanthelasma; vitiligo,
finger prick testing marks of diabetes, pigmented skin of Addison’s.
▪ Neurological: Thenar eminence wasting, loss of sensation lateral 3 and a half fingers, positive
Tinel’s and Phalen’s tests, delayed relaxation of reflexes.
▪ Cardiovascular: Cool peripheries, bradycardic.
▪ Respiratory: Reduced asymmetrical chest expansion, stony dull percussion note, reduced air
entry, reduced vocal resonance.
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▪ Immune: Hashimoto’s thyroiditis, atrophic thyroiditis.
▪ Iatrogenic: Radio-iodine therapy, amiodarone, lithium, interferon alpha.
▪ Iodine abnormalities: Deficiency (commonest cause worldwide), excess (Wolff Chaikoff effect).
▪ Infiltration: Riedel’s thyroiditis, amyloidosis, haemochromatosis, sarcoidosis.
▪ Congenital: Thyroid agenesis, dyshormonogenesis.
▪ Secondary: Pituitary failure.
Investigations:
▪ Bedside tests: Blood pressure (lying and standing blood pressure for Addison’s), pregnancy
test (tight control of TFTs required).
▪ Bloods: Thyroid function tests (high TSH, low T4), anti-thyroid peroxidase antibodies (positive
>90%), anti-thyroglobulin antibodies (positive >90%), FBC (normo- or macrocytic
anaemia), creatinine kinase (may be raised), lipids (raised cholesterol and triglycerides).
▪ Imaging: Ultrasound (if there is asymmetry or nodules are felt).
Management:
▪ Medical: T4 (levothyroxine, start low and titrate up every month; then monitor annually).
Questions:
1. Would you treat somebody with subclinical hypothyroidism? There are risks to treatment
including reduced bone mineral density and arrhythmias, but there are some individuals who
have a high probability of developing clinical disease – antibody positive, previous radio-iodine
therapy or Grave’s disease, other organ specific autoimmune disease, or TSH>10.
2. What other diseases are common in those with hypothyroidism? Type 1 diabetes mellitus,
autoimmune hepatitis, primary biliary cirrhosis, vitiligo, pernicious anaemia.
3. What signs would specifically suggest that the patient is hypothyroid following treatment of
Grave’s disease? Thyroid acropachy, exophthalamos, ophthalmoplegia, pre-tibial myxoedema,
thyroidectomy scar.
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Crohn’s Disease
Scenarios: Abdominal pain, weight loss, change in bowel habit, blood/mucus PR.
Questions to ask:
1. When did the symptoms start? Describe them, severity, factors which relieve and exacerbate
them, progression, previous episodes?
2. Associated symptoms – change in bowel habit, diarrhoea, constipation, blood/mucus, vomiting,

nausea, weight loss, night sweats, fever?
3. Extra-intestinal features – mouth ulcers, sore or red eyes, change in vision, joint or back pains,
rashes, yellowing of the skin?
4. Systems review – dysuria, frequency, vaginal discharge, dyspareunia, IMB/PCB, menhorragia,

last period, pregnancies, risk of currently being pregnant?
5. Initial diagnosis – when, follow up, treatments, surgeries, colonoscopies, complications?
6. Do any conditions run in your family, do you have a history of bowel problems specifically?
7. Any recent travel, contacts unwell, change in diet, smoking, alcohol, recreational drugs, risk
factors for HIV?
8. Affect of symptoms on work, child-rearing, day-to-day activities?
Systems to examine:
▪ Skin: Clubbing, mouth ulcers, erythema nodosum, pyoderma gangrenosum, psoriasis, scars from
previous tunnelled lines.
▪ Eyes: Red, irritated, sore eyes, reduced visual acuity.
▪ Abdominal: Surgical scars, stomas, masses, tenderness.
▪ Musculoskeletal: Joint pain/swelling/deformities especially sponylitis or oligoarthritis of joints

like the knees and ankles.
▪ Treatment related: Cushingoid (steroids), gym hypertrophy and hypertrichosis (cyclosporin).
▪ Crohn’s disease: Active flare of inflammation, stricture, adhesions, fistulas, abscess, malignancy,
infection related to immunsuppression (e.g.: CMV colitis), extra-intestinal issues like primary
sclerosing cholangitis.
▪ Other gastrointestinal: Ulcerative colitis, infection (bacterial, mycobacterial, viral, protozoal,

helminths; opportunistic related to HIV/immunosuppression), vasculitis, Behcets, malignancy
(solid organ or haematological), irritable bowel syndrome, Coeliac’s disease, cholelithiasis,
pancreatitis, gastritis.
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▪ Genitourinary tract: Urinary tract infection, renal tract stones, pelvic inflammatory disease,
endometriosis, pregnancy related.
▪ Bedside tests: Urine dipstick (UTI, renal tract stones, pregnancy

test), temperature (infection), weight (weight loss), PR examination (blood, mucous, masses,
fistulae), stool MCS, culture, OCP, toxin (infectious precipitants).
▪ Blood tests: FBC (anaemia, raised platelets and

WCC), CRP/ESR (raised), U&Es (dehydration), LFTs (gallstones or PSC), haematinics (B12, folate
and iron deficiency), vitamin D (deficiency from malabsorption).
▪ Imaging: Plain abdominal radiograph (Dilatation, mass, thumb printing, perforation), CT

abdomen and pelvis (to investigate cause of symptoms, especially colonic, or prepare for
surgery), small bowel enteroscopy or MRI (assessing small bowel disease), MRI (perianal
disease), plain films of joints or MRI (spondylitis, arthritis), plain chest radiograph (to consider
differentials like tuberculosis).
▪ Special tests: Faecal calprotectin (if raised suggests intestinal inflammation), colonoscopy or
sigmoidoscopy (macroscopically: rectal sparing, cobblestone appearance, discontinuous
inflammation and ulceration; microscopically: granulomas, crypt abnormalities, inflammation,
ulceration), diagnostic laparotomy (if cause remains unclear).
Management:
▪ Non-pharmacological: Smoking cessation (referral to stop smoking clinic, NRT, buproprion,

varenicline; smoking cessation can reduce the risk of relapse by 65%), dietary advice, advise to
avoid NSAIDs (increased flare risk), support groups and give them a contact detail for the IBD
specialist nurse.
▪ Pharmacological: Induce remission with high dose aminosalicylic acids (e.g.: pentasa) and
steroids (9mg budesonide for small bowel disease, 40mg prednisolone for colonic disease; plus
consideration of bone and stomach protection), they may also need azathioprine or
mercaptopurine added in; if in hospital with a flare thromboprophylaxis is vital. To maintain
remission agents like azathioprine or mercaptopurine are used (alternatives are methotrexate).
Active or fistulating Crohn’s may also meet criteria for the use of infliximab. Other options
include elemental diets and total parenteral nutrition, or metronidazole for perianal disease.
▪ Surgical: If medical treatments failing (anastamotic recurrence common) or to manage long

term complications (e.g.: stricturoplasty).
Questions:
1. What are the side-effects of ASA compounds? Like sulphasalazine they can cause headache,
nausea, and abdominal pain in a dose-related manner; idiosyncratically they are rarely
associated with agranulocytosis, Steven’s Johnson Syndrome and pancreatitis.
2. What are the side-effects of steroids? Early on there is weight gain, acne, fluid retention, sleep
disturbance, alteration of mood, hyperglycaemia, and dyspepsia. Courses over 12 weeks have an
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increasing risk of osteoporosis, avascular necrosis, myopathy, infections, and posterior

subcapsular cataracts. On weaning patients off steroids they may experience iatrogenic
Addison’s or myalgia and fatigue.
3. What test can be performed to asses the safety of thiopurines (azathioprine and
mercaptopurine)? A TPMT activity test or genotype to identify those at risk of leukopaenia and
then close monitoring of cell counts. For example weekly FBCs for 2 months, then at least every
3 months; with advice for the patient to seek medical advice urgently if they have a sore throat
or other signs of infection.
4. What are considered poor prognostic factors in Crohn’s? Onset <40 and female gender; perianal,
fistulating, stricturing, perforating disease; steroids required at first flare; upper GI lesions.
5. What investigations are required prior to starting immunotherapy? Check hep B status (risk of
hepatic failure), presence of immunity to zoster, and screening for latent tuberculosis (risk of
reactivation); consider giving outstanding live vaccines as these cannot be used once treatment
has started.
6. What factors affect fertility in Crohn’s disease? Pelvic surgery and disease, immunsuppressants
(i.e.: methotrexate), malnutrition, psychosocial factors.
7. What factors increase the risk of small bowel and colorectal malignancy in Crohn’s? Disease
duration >10 years, co-existing primary sclerosing cholangitis. Those with PSC need annual
surveillance colonoscopy.
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Hepatitis B and C
Scenario: Fatigue, athralgia, right sided abdominal pain, jaundice, weight loss, dark urine.
History:
1. If known diagnosis of hepatitis B or C – When were you diagnosed? Do you know how you
caught the virus? What investigations did you undergo at that time apart from blood tests – for
example scans or biopsies, and did these show any other problems? Have you ever received
treatment? How long were you on treatment and did you receive the full course? Did you
develop any problems with that? How have you felt since?
2. Have you noticed being more tired than normal? Jaundice? Tummy pain? Dark urine? Joint
pains? Rashes? Weight loss? Fevers?
3. What medications are you taking and what other medical problems do you have? Have you
ever received vaccinations against hepatitis?
4. Has anyone in your family, or anyone you know ever had hepatitis?
5. What job do you do – have you ever worked in healthcare?
6. Do you smoke, drink, or take recreational drugs?
Examination:
▪ Skin: Tattoos, track marks, vasculitic rashes, bullous rashes (porphyria cutanea tarda),
xerophthalmia.
▪ Abdominal: Icterus, ascites, purpura, asterixis, spider naevi, palmar erythema.
Investigations:
▪ Bedside tests: Urine dipstick (pregnancy testing for purposes of screening and treatment, risk of
glomerulonephritis).
▪ Bloods: LFTs/GGT (may be normal), FBC, clotting, full virological screen (HIV antigen-antibody
testing, anti-hepatitis A IgG, anti-HB sAg, anti-HB cAb, anti-hepatitis C IgG)
▪ Imaging: USS abdomen (cirrhosis, portal hypertension, splenomegaly, focal lesions)
▪ Special tests: Liver biopsy (to assess cirrhosis, to exclude co-existing pathology).
General management issues: Vaccinate against hepatitis A and B (for contacts too), advise alcohol
cessation, give information leaflets and support; discuss important lifestyle issues including clean needle
programmes, safe sex, and contraceptive advice; if cirrhotic should be offered regular USS abdomen to
screen for hepatocellular carcinoma.
Management of Hepatitis B:
▪ Specific testing issues: HBeAg, anti-HBe, anti-HBc, anti-hepatitis D.
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▪ Specific treatments: Pegylated interferon alpha (subcutaneous) alone; with other options
including tenofovir or entecavir.
▪ Problems you may need to enquire about: Interferon can cause major depressive episodes and
severe flu-like symptoms that can prevent patient from being treated or completing treatment
courses. Note than HCC can even develop in non-cirrhotic individuals on occasion so monitoring
crucial.
Management of Hepatitis C:
▪ Specific testing issues: Genotype testing (1 is commonest in UK and least treatable, genotypes
2+3 most amenable to treatment; patients may be infected by more than one genotype), HCV
RNA viral load.
▪ Specific treatments: Pegylated interferon alpha (subcutaneous) and ribavirin (oral), adding in
newer protease inhibitors (boceprevir, telaprevir) to this regimen for genotype 1 patients.
Treatment duration depends on genotype and other factors.
▪ Problems you may need to enquire about: Interferon can cause major depressive episodes and
severe flu-like symptoms that can prevent patient from being treated or completing treatment
courses.
Questions:
1. How long does it take for tests to become positive for hepatitis B and C? Hep C incubation in 6-9
weeks with symptomatic episodes at infection very rare, and serology can take 3-6 months to
become positive.
2. How are the hepatitis viruses transmitted? Hep B via mother to child, sexual intercourse, IVDU
and needle-stick injuries. Hep C is via IV drug use, blood transfusions pre-1991, needlestick
injuries, from mother to child, and rarely, via sexual intercourse.
3. What extra-hepatic features of hepatitis C do you know? Sjogrens, cryoglobulinaemia, ITP,

autoimmune hepatitis and thyroiditis, membranous glomerulonephritis.
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Hereditary Colon Cancer Syndromes

Scenarios: Relative recently diagnosed, symptoms of a particular malignancy, about to start a family.
Questions to ask:
▪ Any weight loss, night sweats, fevers, lumps or bumps noticed?
▪ Any nausea, vomiting, abdominal pain, change in bowel habit, constipation, diarrhoea, black
stools, bloody stools?
▪ Any itching, dark urine, pale stool, episodes where you’ve looked yellow?
▪ Any pain passing urine or passing bloody urine?
▪ If female – any change in your periods, any post-coital, intermenstrual, or post-menopausal

bleeding, any new breast lumps, when did you start your periods and then enter the menopause,
do you have children, how old were you with your first, how many kids, did you breast feed?
▪ Any cough, shortness of breath, coughing up blood?
▪ Any headaches in the morning or worse on straining, any associated weakness, numbness or
change in your hearing, taste or smell?
▪ Any new or changing moles or other skin lesions?
▪ Anything else you see the doctor for, any operations, are you any tablets and do you gave any
allergies?
▪ Who else in your family has been affected – are they on your mother or fathers side, at what age
were they diagnosed, what was their diagnosis, were there any other unusual features (eg:
bilateral breast cancer, male breast cancer), what treatment did they receive?
▪ What do you do for a living, any exposure to toxins like asbestos or radiation?
▪ Who’s at home with you?
▪ What is your main concern today, do you have any specific questions today and is there anything
specific you were hoping I could do for you today?
Differentials to exclude and systems to examine:
▪ Familial adenomatous polyposis: Conjunctival pallor, thyroid masses, cervical lymphadenopathy,

abdominal masses, irregular hepatomegaly, offer to perform digital rectal examination for
masses, melena and blood.
▪ Gardner’s syndrome: Same spectrum as FAP but with bony and soft tissue abnormalities.
▪ Lynch syndrome (HNPCC): Conjunctival pallor, cervical lymphadenopathy, abdominal masses,

irregular hepatomegaly, iliac fossa masses, offer to perform digital rectal examination for
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masses, melena and blood and consider the need for a bimanual examination for uterine or
adnexal masses.
▪ Peutz Jeugers syndrome: Pigmented lesions on palms and soles, conjunctival pallor, pigmented
lesions on the lips and buccal mucosa, cervical lymphadenopathy, abdominal masses, irregular
hepatomegaly, offer to perform a digital rectal examination for masses, melena and blood.
Investigations:
▪ Familial adenomatous polyposis: FBC, LFTs, TFTs, upper and lower GI endoscopies with
histology, CT CAP.
▪ Lynch syndrome (HNPCC): FBC, LFTS, upper and lower GI endoscopies with histology,
hysteroscopy with histology.
▪ Peutz Jeugers syndrome: FBC, LFTs, upper and lower GI endoscopies with histology, CT CAP.
Management: General measures include referral to a clinical geneticist, obtaining detailed information
about the other relatives cancer including the exact mutation or number of polyps identified, and
educating about the non-familial risk factors for cancer (smoking, alcohol, diet, weight, asbestos
exposure).
▪ Familial adenomatous polyposis: Early prophylactic colectomy in late teens to early twenties,
followed by 3 yearly upper GI endoscopy every 3 years from the age of 30 years.
▪ Lynch syndrome (HNPCC): Colonoscopy every 2 years from the age of 25 until polyp number
suggests prophylactic cold tommy required, upper GI endoscopy every 2 years from the age of
50.
▪ Peutz Jeugers syndrome: Colonoscopy and upper GI endoscopy every 2 years from the age of 25.
Questions:
1. What mutations are involved in the above conditions? FAP (APC gene chromosome 5, autosomal
dominant), Peutz Jeugers syndrome (STK11 gene in chromosome 19, autosomal dominant),
2. What national screening programme exists for colon cancer? Faecal occult blood testing
between 60-70 years old.
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Hereditary Haemochromatosis
Scenarios: Tanned skin, thirst, weight loss, joint pain, jaundice, haematemesis, erectile dysfunction.
Questions to ask:
1. Is there any family history of diabetes or problems with the liver? Autosomal recessive condition.
2. Where do your family originate from? Commoner in Northern Europeans, especially those of
Irish origin.
3. Do you experience joint pain? Psuedogout is a feature of the disease.
4. Have you noticed increasing thirst, going to the toilet more often, or weight loss in recent
months? Pancreatic iron deposition causes diabetes.
5. Have you noticed any difficulty with having or maintaining erections? Can occur due to testicular
or pituitary deposition of iron.
6. Have you noticed that you become fatigued more easily, are breathless lying flat, are awoken at
night suddenly short of breath or have problems with ankle swelling? Can develop a dilated
cardiomyopathy.
Systems to examine:
▪ Skin: Tanned skin.
▪ Cardiovascular: Irregular pulse, raised JVP, displaced apex, 3rd heart sound, bibasal crepitations,
peripheral oedema.
▪ Abdominal: Features of chronic liver disease (palmar erythema, spider naevi, purpura,
gynaecomastia, axillary hair loss), jaundice, hepatomegaly, splenomegaly, hepatic masses
suggestive of HCC.
▪ Musculoskeletal: Swollen/red/tender joints, scars from joint replacement.
▪ Alcohol excess: Can also cause raised ferritin, predispose to diabetes and joint disease (gout),
and eventually result in chronic liver disease and HCC.
Confirming the diagnosis:
Raised ferritin (can be in the thousands at diagnosis), raised transferrin (>55% in men, >50% in women;
if raised confirm on a fasting sample), HFE genotyping (C282Y and H63D mutations), and liver biopsy.
▪ Bedside tests: Blood sugar (raised), urine dipstick (glycosuria), ECG (atrial fibrillation and other
arrythmias, conduction abnormalities).
▪ Blood tests: FBC (polycythaemia), LFTs (deranged depending on disease stage), INR (marker of
liver synthetic function), ferritin (for diagnosis and monitoring response to
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treatment), transferrin saturation (for diagnosis), fasting glucose (to screen for diabetes), AFP (if
HCC suspected or patient at risk).
▪ Imaging: Abdominal USS (cirrhosis), ECHO (dilated cardiomyopathy), plain films of

joints (chrondrocalcinosis).
▪ Special tests: Ferriscan (to estimate liver iron load), genetic testing (as above, to asses if
homozygous for the mutation), liver biopsy (degree of fibrosis and cirrhosis).
Management:
▪ Non-pharmacological: Counselling, regular venesection (aiming for a ferritin <50 initially with
venesections weekly-two weekly, followed by 3-4 times a year, the latter may be done via the
National Blood Service).
▪ Pharmacological: Treat co-morbidities (ie: diabetes, heart failure).
▪ Surgical: Liver transplant.
Questions:
1. What is the mutation? Autosomal recessive
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Hereditary Haemorrhagic Telangiectasia (HHT)

Also known as Osler Weber Rendu Disease.
Scenarios: Fatigue, breathlessness, recurrent epistaxis, haemoptysis, haematemesis, melena,

haematuria.
Questions to ask:
▪ Do you have any abdominal pain, change in bowel habit, blood in your stools, black stools,
vomiting, blood in the vomit?
▪ Any nosebleeds – how often, how heavy, ever needed to go to hospital with them?
▪ Any cough, blood in sputum, shortness of breath?
▪ Any breathlessness lying flat, waking up at night gasping for breath, or swollen ankles?
▪ Any headaches, numbness, pins and needles, weakness, fits, changes in your vision, speech or
hearing?
▪ Ever experience tinnitus or hearing your own heart beat?
▪ What are your periods like, do you find them heavy?
▪ Have you had any problems with bleeding anywhere else – for example after being to the dentist
for a tooth removal?
▪ Do you experience any shortness of breath, fatigue, dizziness, palpitations or chest pain?
▪ Any recent weight loss?
▪ Any other problems you see a doctor for?
▪ Are you on any medications, have you ever taken iron tablets?
▪ Is there anyone in the family with similar problems?
▪ Who’s at home with you and what do you do for a living?
▪ Do you have any particular worries or any questions you would like me to answer?
Systems to examine: For this routine, start at the hands, looking particularly at the finger pulps and
palmar creases, check for clubbing, move up to the face checking the conjunctivae, then around the
mouth, lips, buccal mucosa and tongue; then lie flat and palpate for masses, a liver and a spleen and
listen for bruits; then sit forward and listen to the back of the lungs for bruits.
▪ Skin: Telangiectasia affecting the skin including the lips and oral mucosa, clubbing, pale palmar
creases and conjunctival pallor.
▪ Respiratory: Cyanosis, bruits, crepitations.
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▪ Cardiovascular: High output state with tachycardia, raised JVP, 3rd heart sound, bibasal
crepitations and peripheral oedema.
▪ Gastrointestinal: Hepatomegaly, splenomegaly, bruits, dilated abdominal veins.
▪ CNS: Focal neurology, paraplegia.
▪ Systemic sclerosis: Telangiectasia, calcinosis, sclerodactyly, Raynaud’s, microstomia, dysphagia.
▪ Peutz Jeugers syndrome: Pigmented lesions on the lips, buccal mucosa and fingertips (tongue is
not affected and they do not blanche on pressure); symptoms of anaemia, recurrent abdominal
pain.
▪ Von Willebrands disease: Mucosal bleeding like epistaxis and menorrhagia but no particular
physical signs.
Confirming the diagnosis:
Patient must meet 3 out of 4 of the Curaco Criteria – recurrent epistaxis, mucocutaneous telangiectasia,
visceral AVMs, and/or family history.
▪ Bedside tests: Urine dip (haematuria), oxygen saturations (right to left shunts).
▪ Bloods: FBC (anaemia), iron studies (deficiency due to bleeding), LFTs (hepatic vascular
malformations).
▪ Imaging: At baseline they should undergo MRI brain (to identify any AVMs), transthoracic
cardiac echocardiogram with agitated saline or if not available a CT chest (for pulmonary AVMs);
if anaemia is out of proportion to epistaxis perform upper GI endoscopy; if there are deranged
LFTs or high output cardiac failure or specific symptoms of liver failure they should undergo liver
USS with dopplers.
▪ Special tests: Genetic testing (multiple mutations so diagnosis is primarily with the criteria
above, but sometimes utilised in children or those in whom the diagnosis is uncertain).
Management:
▪ Non-pharmacological: Counselling, supplementary written information, genetic counselling,

avoid scuba diving.
▪ Pharmacological: Iron supplementation (oral or intravenous), blood transfusion, oestrogen (to

induce squamous metaplasia), tranexamic acid.
▪ Surgical: Embolisation and ligation of AVMs, cauterisation of nasal telangiectasiae, liver

transplantation.
Questions:
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1. What is the mutation? Commonest is a mutation in the TGF beta receptor, endoglin, on
chromosome 9.
2. What are the possible complications of HHT? Bleeding, anaemia, high output cardiac failure;
haemorrhage, paradoxical emboli, liver failure.
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Marfan’s Syndrome
Scenarios: Chest pain, shortness of breath, joint pain, change in vision.
Questions to ask:
▪ Do you have any chest pain – sudden onset, spreading to back, worse on inspiration, associated
nausea, vomiting, palpitations, radiation elsewhere?
▪ Do you have any cough or shortness of breath?
▪ Any fevers, night sweats, weight loss, blood in your urine, rashes?
▪ Any changes to your vision?
▪ Any dislocated joints in the past or are your joints very flexible?
▪ Any episodes where you suddenly feel anxious, sweaty and have a headache; any lumps in the
neck; any problems with thirst, constipation or abdominal pain?
▪ How tall are you?
▪ Any thing else you’ve seen a doctor for?
▪ Are you on any medications, anything from the pharmacy, any allergies?
▪ Do you smoke, drink, or take recreational drugs?
▪ Who’s at home and are you working at the moment?
▪ What is your main worry today and do you have any particular questions for me?
Systems to examine:
▪ Inspection: Height, and whilst standing up look the the back of the thorax for kyphoscoliosis and
at the front for pectus excavatum and carinatum, spread your arms out wide (disproportionately
long arm span to height), arachnodactyly, put thumb in fist (will come out the other side), place
your thumb and little finger in a ring around your wrist (they will overlap), ask them to look
quickly back and forth from side to side (iridodonesis due to upward lens dislocation) and blue
sclerae, look inside the mouth with a pen torch looking for a high arched palate and any mucosal
neuromas (especially on the tip of the tongue).
▪ Cardiovascular: Look for prominent neck pulsations, feel for a collapsing pulse, ask for a blood
pressure, feel for their apex, sit them forward and ask them to take a deep breath in and out
and hold it and listen for an early diastolic murmur of aortic regurgitation, listen for ejection
click and late systolic murmur of mitral valve prolapse.
▪ Respiratory: Feel the tracheal position, and if chest pain reported percuss and auscultation for a
pneumothorax, inspect in the axillae for chest drain scars.
▪ Abdominal: If time you could ask and inspect for herniae.
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▪ Physiologically tall.
▪ Homocysteinuria: Differ in the absence of cardiac complications, the presence of cognitive

impairment, recurrent thromboembolic events and downward and medial lens dislocations.
▪ MEN 2b: Marfinoid body habitus, mucosal neuromas, medullary thyroid cancer,
phaeochromocytoma; it doesn’t effect the eyes or the heart.
▪ MASS phenotype: Mitral valve prolapse, mild non-progressive aortic root dilatation, skin and
skeletal manifestations.
▪ Other connective tissue disorder: Ehlers Danlos (AD, fish mouth scars, hypermobility, blue
sclerae, listen for mitral valve prolapse, look for evidence of previous GI complications), pseudo
xanthoma elasticum (AR, plucked chicken skin appearance, hypermobility, blue sclerae, angioid
streaks on fundoscopy, listen for mitral valve disease and screen for hypertension and
accelerated atherosclerosis).
Investigations:
▪ Bedside tests: Electrocardiogram, blood pressure for wide pulse

pressure, temperature/fundoscopy/dipstick (for infective endocarditis).
▪ Bloods: Depends on presentation.
▪ Imaging: Chest radiograph (cardiomegaly, pulmonary oedema, widened mediastinum due to

aortic root dilatation or dissection), annual echocardiogram (to assess aortic root diameter and
for aortic regurgitation amongst other abnormalities).
▪ Special tests: Diagnosis based on the Ghent Criteria rather than genetic testing in most cases.
Treatment:
▪ Non-pharmacological: Counsel them on the diagnosis, particularly the familial element and risk
of pneumothoraces and heart disease, supplement this with written information and sign post
to appropriate sources of support; need to managed within an MDT consisting of doctors
(genetic, counsellor, cardiologists, General Practitioner, ophthalmologist, orthopaedics,
rheumatology, respiratory, cardiothroacics), physiotherapy, occupational therapy.
▪ Medical: Manage co-morbidities including arrhythmias, beta blockers and angiotensin receptor
blockers to slow progression of aortic root dilatation.
▪ Surgical: Aortic valve replacement (tissue or mechanical), aortic root repair (root >5cm).
Questions:
1. What are the causes of a high arched palate? Marfan’s syndrome, homocysteinuria, Friedreich’s
ataxia, Tuner’s syndrome, Noonan’s syndrome.
2. What is the genetic defect in Marfan’s Syndrome? Autosomal dominant mutation in fibrillin-1 on
chromosome 15 with complete penetrance but a variable phenotype.
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3. What conditions cause blue sclerae? Osteogenesis imperfecta, marfans, pseudoxanthoma

elasticum, Ehlers Danlos, alkaptonuria (due to deposition rather than a thin sclera).
4. What is the cause if MEN 2b? Spontaneous or autosomal dominant defect in RET proto-
oncogene that causes a marfinoid body habitus, mucosal neuromas, medullary thyroid cancer
and phaeochromocytomas. Genetic testing available. Treatment is thyroidectomy and close
monitoring for phaeochromocytoma.
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Neurofibromatosis Type 1
Scenarios: Seizures, visual disturbance, headaches, rashes.
Questions to ask:
▪ Have you noticed any skin rashes, skin discolouration or lumps or bumps on the skin?
▪ Have you had headaches, seizures, fits or funny turns; is there any weakness, numbness or pins
and needles anywhere?
▪ Is there any change in your speech, hearing or balance; do you feel clumsier than normal or have
you noticed ringing in the ears?
▪ Do you experience palpitations, headaches, anxiety, sweating, tremor?
▪ Do you have any other medical conditions, especially high blood pressure?
▪ Are you on any medications?
▪ Does anyone in the family have problems like these and are there any other conditions that run
in your family?
▪ Who’s at home with you, what do you do for a living?
▪ At what’s age did you leave school, did you go on to college or university?
Systems to examine: For this routine start at the hands with the arms outstretched, check for pronator
drift and rebound phenomenon and past pointing and intention tremor, then as you scan up to the face
take a closer look at one set of the neurofibromas somewhere on their body in order to palpate and
delineate, then look at the irises, check acuity, fields, pupillary responses, eye movements, facial
sensation and muscle strength, hearing, and then ask them to raise their arms to look in their armpits,
listen for a renal bruit, sit them forward and show that you are looking at the shape of their spine, finish
by listening to the chest and performing fundoscopy.
▪ Cutaneous: Cafe-au-lait spots (>6, >15mm in diameter), neurofibromas (>2; soft, subcutaneous,
varying size, may be pedunculated), plexiform neurofibroma (>1), axillary freckling.
▪ Ophthalmological: Lisch nodules using a pen torch, then fundoscopy for optic nerve glioma or
atrophy from compression or swelling due to raised intracranial pressure.
▪ Skeletal: Kyphosis, scoliosis, bowing of the legs.
▪ Neurological: Abnormal visual fields, reduced visual acuity, papilloedema, sensorineural hearing
loss, hearing aids, palpable peripheral nerves – focus on 2, 3, 4, 5, 6, 7, 8 and cerebellar signs.
▪ Respiratory: Crepitations.
▪ Cardiovascular: Murmur of co-arctation.
▪ Abdominal: Bruit of renal artery stenosis.
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▪ Decrum’s disease: Multiple lipomas – varying size, soft, mild fluctuance, overlying skin can be
mobilised separately from them.
▪ Tuberous sclerosis: Adenoma sebacaeum, subungual fibroma, shagreen patches, ash-leaf

macules.
Investigations:
▪ Bedside tests: Blood pressure (hypertension, and check for postural hypotension which is a
feature of phaeos).
▪ Imaging: MRI (optic nerve glioma), chest radiograph or CT chest (fibrosis, cysts), renal tract USS
plus dopplers (renal artery stenosis).
▪ Special tests: Slit lamp examination (to confirm Lisch nodules if not seen on routine
examination), urinary metanephrines (to screen for phaeochromocytoma – if confirmed, the
most likely location is adrenals, in which case MRI is the best to localise, although a CT is usually
sufficient, and otherwise a MIBG scan be used to search for extra-adrenal ones).
Management:
▪ Non-pharmacological: Education and support, genetic counselling and family screening.
▪ Medical: Anti-epileptics, anti-hypertensives (alpha then beta for phaeochromocytoma).
▪ Surgical: Removal of lesions (e.g.: disfiguring, compressive, neoplastic).
Questions:
1. What is the mode of inheritance? Autosomal dominant with complete penetrance – type 1
chromosome 17 gene defect, type 2 chromosome 22 gene defect.
2. What criteria are used to diagnose type 1 neurofibromatosis? The National Institute of Health
criteria which enable diagnosis in the presence of 2 or more of 1st degree relative with NF1, 6 or
more cafe au lait macules, 2 or more neurofibromas, 1 or more plexiform neuroma, two or more
lisch nodules, osseous abnormalities, axillary freckling and optic nerve glioma.
3. What are the features of neurofibromatosis type 2? Bilateral acoustic neuromas, accompanied
by meningiomas and schwannomas, and some have cafe au lait spots. Family members should
have hearing tests.
4. What would you like to examine to ascertain if there is an acoustic neuroma present? Cranial
nerve 5 (reduced facial sensation and masticatory muscle weakness), 6 (eye abduction), 7 (facial
droop), hearing loss, cerebellar signs including nystagmus.
5. What is a plexiform neurofibroma? Larger neurofibromas that can grow to a considerable size
and cause significant distortion of the involved body part; there is also a risk of neoplastic
transformation unlike the other skin lesions of this condition.
6. What neurocutaneous syndromes do you know? Neurofibromatosis, tuberous sclerosis, Von

Hippel Lindau syndrome, Sturge Weber Syndrome, ataxia telangiectasia.
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7. What secondary causes of hypertension are seen in Neurofibromatosis? Phaeochromocytoma,

renal artery stenosis and co-arctation.
8. What hereditary conditions are associated with phaeochromocytomas? Neurofibromatosis, Von

Hippel Lindau, and multiple endocrine neoplasia type 2a and 2b (in addition to medullary cell
thyroid cancers and parathyroid hyperplasia).
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Tuberous Sclerosis
Scenarios: Rash, headaches, fits, shortness of breath, difficult to treat blood pressure, poor progress at
school or college.
Questions to ask:
▪ When did the rash start, how has it changed since then, where on your body does it affect?
▪ Any headaches, weakness, numbness, tingling, fits, funny turns, changes in your vision, hearing,
speech or swallowing?
▪ Any shortness of breath or cough?
▪ Any problems passing urine, any blood in the urine, and abdominal swelling, has anyone told you
that you have problems with high blood pressure or your kidneys?
▪ Any other medical problems that you see a doctor for, any operations in the past?
▪ Anyone else in the family with a rash or similar problems to these, any other medical problems
that run in the family?
▪ Who’s at home with you, what do you do for work?
▪ How old were you when you left school, how did you do in exams, did you go to college or
university?
▪ Do you smoke, ever smoked, drink alcohol, or take recreational drugs?
▪ How is your mood?
▪ Do you have any particular worries or questions for me?
Systems to examine: For this routine get the patient on the couch, ideally with their top off, start with
the hands out straight for tremor and nail changes, then scan up the arms for a fistula and check the
blood pressure, examine the facial rash, look in the mouth at the palate and gums, check the neck for
scars, scan the thorax for ash leaf macules, look for scars of peritoneal dialysis and transplant, ballot the
kidneys, sit them forward, check for nephrectomy scars, listen to the lungs and finish at the heart and
fundoscopy if you have time.
▪ Cutaneous: Peri-ungual fibromas on the nails (look at nails and toenails), adenoma sebaceum
(facial angiofibromas) on the face, ash leaf macule on the thorax (ask to inspect these under
Woods lamp as the depigmented macule will fluoresce), shagreen patches over the lumbar
region.
▪ Fundoscopy: Retinal phakomas (grey/white/yellow patches).
▪ Renal: Look for tremor, check for AV fistulas, check gums for hypertrophy (could be cyclosporin
for the transplant or phenytoin from the epilepsy) and at the same time look at the hard palate
as a high arched palate is seen in tuberous sclerosis, neck scars (lines, parathyroidectomy),
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nephrectomy scars, peritoneal dialysis scars, renal transplant, ballotable kidneys due to renal
angiomyolipomas or cysts.
▪ Cardiac: Rhabdomyomas may cause audible murmurs due to turbulent flow across them.
▪ Neurological: Brief neurological examination to asses for focal neurology if reported by the
patient.
▪ Neurofibromatosis type 1: Cafe au lait spots, neurofibromas, axillary freckling, lisch nodules.
▪ Von Hippel Lindau: Cysts in the kidneys, pancreas, liver and epididymis; cerebellar
haemangioblastomas, retinal angiomas, risk of phaeochromocytoma and renal cell cancer.
Investigations:
▪ Bedside tests: Woods lamp (to highlight the ash leaf macules), blood
pressure (hypertension), electrocardiogram (conduction blocks, Wolff Parkinsons white,
hypertrophy due to outflow tract obstruction), urine dipstick (haematuria), oxygen
saturations (cystic lung disease).
▪ Bloods: FBC (anaemia due to haematuria), U&Es (due to renal cysts and angiomyolipomas).
▪ Imaging: Plain films of the skull (railroad track calcification), MRI brain (tubers and
subependymal nodules, lesions may calcify), echocardiogram (rhabdomyomas), renal tract
USS/MRI (angiomyolipomas, renal cysts), CT chest (lymphangioleiomyomatosis, pneumothorax,
chylous pleural effusions).
▪ Special tests: Spirometry (if lung involvement).
Management:
▪ Non-pharmacological: Educate on the diagnosis and give supplementary written information,

focus on the familial element with a 50% risk of transmission to children and the increased risk
of epilepsy; utilise all relevant members of the MDT including neurologist, epilepsy specialist
nurse, general practitioner, genetic counsellor and nephrologists, if they have epilepsy give the
relevant advice regarding DVLA notification and safety tips for day to day life (showers not
baths, leave the door open, don’t swim unaccompanied, avoid heights like scaffolding).
▪ Medical: Treat co-morbidities like epilepsy and renal disease.
▪ Surgical: Renal transplant, excision of large lesions, arterial embolisation of bleeding

angiomyolipomata.
Questions:
1. What is the mode of inheritance of tuberous sclerosis? Autosomal dominant but with variable
penetrance, due to defects of chromosome 9 in TSC 1 (hamartin), and chromosome 16 in TSC 2
(tuberin).
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2. Why do patients with tuberous sclerosis develop renal cystic disease? The TSC 2 gene lies next to
the ADPKD 1 gene on chromosome 16 and as such they can develop manifestations of both
conditions.
3. What renal complications can these individuals develop? Renal cysts and angiomyolipomas, cyst
infection, cyst bleed, cyst rupture, renal failure, renal cell carcinoma (unlike in ADPCKD, both TS
and especially VHL carry a high risk of RCC).
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Confusion
Scenarios: Worsening memory, getting lost, not coping at home, incontinence, personality change,
depression.
Questions to ask:
▪ When did you first notice problems with your memory, what did you notice first, how has it
changed since that time, what do you find particularly difficult?
▪ How is your memory of things from a long time ago, such as from your childhood; do you find
yourself forgetting names, getting lost, losing track of the days, having problems with cooking
like leaving the stove on?
▪ Any change in your writing, speech or swallowing?
▪ Any problems with your mobility, do you find your walking is slower or that you have trouble
with stairs or with falling?
▪ If there have been falls – any injuries to the head or anywhere else on your body, have you had to
go to hospital?
▪ Any problems with the bowels or waterworks – going more often than normal, having difficulty
going, having accidents?
▪ How has your mood been during this, do you feel low, or find that you’ve been more emotional
than normal; have you had less of an appetite or been sleeping badly?
▪ Have you been having more vivid dreams than normal or seeing or hearing things that you think
might not really be there?
▪ Any headaches, numbness, pins and needles, weakness, changes in your hearing or vision,
shaking, or unusual movements?
▪ Any weight loss, fevers, lumps, bumps, or pains that are bothering you?
▪ Any other problems that you see a doctor for, any previous operations?
▪ Are you on any medications, any allergies, do you have a blister pack or dosette box, ever taken
penicillin?
▪ Any medical problems that run in the family?
▪ Do you smoke, ever smoked, drink alcohol, taken recreational drugs?
▪ Who’s at home with you and how do you feel you’re coping?
▪ Any carers or family nearby to help?
▪ Do you have any particular worries, concerns or questions for me?
Systems to examine:
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▪ Cognitive: AMTS or ideally a Montreal Cognitive Assessment (MOCA) tool, Geriatric Depression
Scale (GDS).
▪ Neurological: Gait (slow, shuffling, loss of arm swing, poor turn of Parkinson’s, Lewy body,
Parkinson’s plus syndromes or vascular Parkinsonism; broad based and ataxic of normal
pressure hydrocephalus), check for tremor, vertical gaze palsy, cerebellar features.
▪ Dementia: Alzheimers, Parkisons and Lewy body dementia, vascular, frontotemporal, rarities
like prion disease should also be borne in mind; potentially reversible elements such as B12 and
folate deficiency, hypothyroidism, liver/renal/cardiac failure, hypercalcaemia, neurosyphilis,
intracranial pathology such as normal pressure hydrocephalus, chronic subdural or mass lesion.
▪ Delerium: May co-exist with the above or be solitary – screen for infection and electrolyte
abnormalities, medications and drugs including alcohol in terms of effect/toxicity/withdrawal.
▪ Mimics: Depression, anxiety, neglect.
Investigations:
▪ Bedside tests: Temperature (infection), urine dipstick and MSU (infection).
▪ Bloods: FBC (anaemia, elevated WCC), CRP/ESR (raised), U&Es (hyponatremia, renal
failure), TFTs (hypothyroidism), bone profile (hypercalcaemia), LFTs (liver
failure), B12/folate (deficiency), VDRL/TPHA (neurosyphilis – VDRL usually negative as late stage
in disease but TPHA would be positive).
▪ Imaging: CT head (hydrocephalus, subdural, intracranial lesion, multi-infarct), radiograph of the

chest (infection, cardiac failure, mass lesion).
▪ Special tests: Lumbar puncture (encephalitis, neurosyphilis).
Treatment:
▪ Non-pharmacological: Counsel on the diagnosis, supplementary written information and

signpost to sources of support; rule out reversible or contributing factors, review the drug
cardex; consider the need for input from social care, physiotherapy, occupational therapy,
speech and language therapy, or referral to a dedicated memory clinic or day care centres;
consider safety aspects like DVLA; introduce the idea of advanced care planning.
▪ Medical: Treat any identifiable underlying cause, optimise cardiovascular risk profile; if
Alzheimer’s then consider the use of cholinesterase inhibitors (eg: donepizil, rivastigmine) in
mild cognitive impairment or NMDA antagonists (eg: memantine) in more severe impairment or
if the above is contraindicated or not tolerated; advise caution with antipsychotics.
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Myasthenia Gravis
Scenarios: Double vision, weakness, quiet voice, difficulty breathing.
Questions to ask:
▪ When did the weakness start, what muscles are affected, how has it progressed, are symptoms
worse late in the day?
▪ Have you had double vision or drooping of the eyes?
▪ Any difficulty speaking or swallowing?
▪ Any shortness of breath?
▪ Any recent signs of infection?
▪ Any other medical problems – in particular any autoimmune diseases?
▪ Are you on any medications or do you have any allergies?
▪ Does anyone in the family suffer from muscle problems, or autoimmune conditions?
▪ Do you smoke (ever smoked), drink alcohol, or take recreational drugs?
▪ What are your concerns?
Systems to examine:
▪ Inspect: Around the bed for a spirometer, and at the patient more closely for a sternotomy scar
indicating thymectomy.
▪ Eyes: Look for ptosis and a complex ophthalmoplegia (where multiple different cranial nerves
appear to be affected through the eyes – such as double vision looking up to the left caused by
the left eye, and double vision looking to the right caused by the right eye), and then ask them
to look up for a period of 20 seconds to show fatiguability with the development of worsening
ptosis.
▪ Face: Check if you can overcome their eye scrunch, and asses for a myasthenic snarl.
▪ Speech: Ask them to count to 50 listening for the voice getting gradually quieter and more
slurred.
▪ Neck muscles: Asses for weakness of the neck muscles for example by asking them to flex their
neck whilst pushing up against their forehead.
▪ Arms: Test strength with shoulder abduction, then get the patient to bat one arm up and down
10-20 times, and then repeat strength testing again – you should find that the exercised arm is
now weak, whereas the other has normal strength. There is no wasting or fasciculation, there is
a normal sensory examination, and reflexes and tone are normal.
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Complex ophthalmoplegia can also be caused by:
▪ Inherited disorders: Chronic progressive external ophthalmoplegia (part of Kearns Sayre

syndrome), congenital myasthenia and mitochondrial myopathies.
▪ Trauma and local infection, including within the cavernous sinus.
▪ Inflammatory disorders: Miller fisher syndrome, mononeuritis multiplex.
▪ Graves ophthalmoplegia.
As a whole, a similar picture can be caused by botulism, variants of Gullain Barre syndrome, congenital
myasthenia’s and mitochrondrial myopathies.
Investigations:
▪ Bedside: Vital capacity (respiratory involvement possible and this is the most sensitive way to
detect deterioration at the bedside), oxygen saturations (monitor for hypoxia), arterial blood
gas (hypoxia, hypercapnia), ice test (place crushed ice in a glass and apply to the patients eye for
3 minutes – this will causes ptosis to improve in MG).
▪ Bloods: Anti-acetylcholine receptor antibodies and Muscle-specific Tyrosine Kinase

antibodies (sensitive for MG), TFTs (not uncommon to have concurrent Graves’
disease), U&Es (hypokalemia a recognised precipitant of worsening symptoms), FBC/CRP (to rule
out intercurrent infection that may cause symptoms to deteriorate).
▪ Imaging: CT or MRI thorax (at diagnosis, to rule out thymoma).
▪ Special tests: Tensilon test (edrophonium test – give IV acetylcholinesterase inhibitor to increase
the amount of ACh available in the NMJ and thereby temporarily improve weakness – monitor
closely for bradycardia, conduction block and asystole with a resus trolley to hand – it is because
of these dangerous complications that it has fallen out of favour), single fibre
electromyography (decremental response to repeated stimulation).
Treatment:
▪ Non-pharmacological: Review drug cardex for causative medications which can be stopped (e.g.:
penicillamine, gentamicin), speech and language review, ITU review, NG feeding, CPAP.
▪ Medical: Acetylcholinesterase inhibitors (pyridostigmine), steroids, steroid sparing agents

(azathioprine), IVIg, plasma exchange, rituximab.
▪ Surgical: Thymectomy.
Questions:
1. What is chronic progressive external ophthalmoplegia? Mitochondrial myopathy disorder –

there is slow but progressive development of ptosis accompanied by ophthalmoplegia. There
may be systemic features such as retinitis pigmentosa, muscle weakness elsewhere, cataracts,
hearing loss, and sensory neuropathy. Systemic features lead to it being called Kearns Sayre
Syndrome.
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2. How does Lambert Eaton Syndrome differ from myasthenia gravis? Antibodies against
presynaptic calcium channels, associated with small cell lung cancer, weakness may improve
with exercise, no ocular symptoms but there is autonomic involvement and hyporeflexia, poor
response to tensilon test, treat with 3,4-diaminopyridine.
3. What are the complications of myasthenia gravis? Acutely – type 2 respiratory failure, aspiration
pneumonia, atelectasis, pulmonary embolism. Chronically – weakness, side effects of steroids
and steroid sparing immunosuppression.
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Pituitary Failure
Scenarios: Headache, bumping into things.
Questions to ask:
▪ Have you noticed any changes in your vision – for example that you are missing things at the side
of your vision or bumping into things, or that you’ve been having double vision or seeing colours
like red less vividly than normal?
▪ Have you had any headaches – where do you feel the pain, are they worse in the mornings?
▪ Have you been more tired than usual?
▪ Adrenal insufficiency – Have you lost your appetite? Do you experience nausea, vomiting,
abdominal pain or weakness?
▪ GH deficiency – Do you have less energy than you used to have? Have you gained weight?
▪ TSH deficiency – Do you feel the cold more than you used to? Have you been constipated? Have
you had dry skin or had hair loss?
▪ For males – Have you noticed changes in your libido? Have you had any problems having or
maintaining erections? Have you noticed any breast growth or difficulty growing facial hair?
Have you had any hot flushes? Are you currently trying to conceive and if so have you been
successful? Have you put on weight?
▪ For females – Have you noticed any changes in your periods? Have you noticed changes in your
libido? Have you had any hot flushes? Have you noticed that you breasts have changed in
size? Are you currently trying to conceive and if so have you been successful? Have you put on
weight?
▪ Compression of pituitary stalk – Are you drinking more and passing water more often?
▪ If the diagnosis is already known – How big was your tumour, what symptoms did you have
initially, what treatments have you received, are you now on hormone replacement and if so do
you have a steroid alert card and understand the ‘sick day rules’?
Systems to examine:
▪ General inspection: BMI, dry skin, hair loss, prominent supra-orbital ridges, conjunctival pallor,
prognathism, increased space between teeth, macroglossia, large hands, loss of facial/axillary
hair, gynaecomastia.
▪ Visual: Visual fields for bitemporal hemianopia, eye movements for ophthalmoplegia suggesting
local invasion, fundoscopy for optic nerve swelling.
▪ Neurological: Difficult rising from a chair without using arms.
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▪ Pituitary: Non-functioning adenoma, adenoma producing prolactin/GH/ACTH/TSH with

compression of remaining tissues, pituitary apoplexy.
▪ Other mass lesions: Meningioma, craniopharyngioma, Rathke’s pouch cyst, metastases (breast,
lung, kidney), internal carotid artery aneurysm.
▪ Granulomatous: Neurosarcoidosis, mycobacterial infection.
Investigations:
▪ Bedside tests: Finger prick glucose (low).
▪ Bloods: Prolactin (low or high), growth hormone stimulation test (OGTT), IGF-1 level (low or
high), LH/FSH (low), testosterone (low), oestradiol (low), TSH/thyroxine (low or high), morning
cortisol (low or high), short synacthen test (produces a
response), FBC (anaemia), U&Es (hyperkalemia, hyponatremia).
▪ Imaging: CT head with contrast (meningiomas and craniopharyngiomas typically calcify), MRI
with gadolinium (pituitary mass with compression of surrounding structures, or stalk and
leptomeningeal enhancement of sarcoid).
▪ Special tests: Goldmann perimetry tests (formal visual field assessment).
Management:
▪ Non-pharmacological: Education and advice, steroid bracelets.
▪ Medical: Hormone replacement (glucocorticoids, thyroid hormones, sex hormones, growth

hormone).
▪ Surgical: Trans-phenoidal surgery (first line if having mass effect).
Questions:
1. How would you manage an adrenal crisis? Intravenous fluids and 4 hourly IV hydrocortisone
100mg (or 6 hourly IM hydrocortisone if access difficult to obtain) until eating and drinking
normally and not vomiting. They can then revert to normal oral hydrocortisone dose, unless
there is an underlying illness that warrants keeping the steroid dose a bit higher for a few days.
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Proximal Weakness
Scenarios: Weakness of arms and legs, difficulty climbing stairs or brushing hair, painful muscles.
Questions to ask:
▪ When did the symptoms start, how have they progressed, how is it affecting your life now?
▪ Are the muscles painful or stiff?
▪ Is the weakness worse at particular times?
▪ Have you noticed problems with your speech or swallowing?
▪ Any drooping of the eyelids?
▪ Have you had any headaches, pain on chewing food, or visual loss?
▪ Have you suffered weight loss, fevers or night sweats?
▪ Have you had any rashes or noticed that you are more sensitive to the sun at the moment?
▪ Any cough or breathlessness?
▪ Any change in bowel habit, nausea or vomiting?
▪ Any other problems that you see a doctor for?
▪ Are you on any medications – particularly statins or steroids, and have you got any allergies?
▪ Any family members with muscle problems?
▪ Do you drink alcohol, smoke (ever smoked), or take recreational drugs?
▪ Who’s at home with you?
▪ Are you working currently?
▪ Any particular questions or concerns for me?
▪ Muscular:
▪ Acquired: Iatrogenic (steroids, statins), immune (polymyalgia rheumatica, polymyositis,

dermatomyositis), endocrine (hypothyroidism, Cushing’s, vitamin D deficiency).
▪ Congenital: Muscular dystrophies and mitochondrial cytopathies.
▪ Neuromuscular junction: Myasthenia gravis, botulism.
▪ Motor nerves: Diabetic amyoptrophy, alcohol, CIDP, GBS.
▪ Anterior horn cell: Motor neurone disease.
Systems to examine:
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▪ Inspect for fasiculations and wasting, and for dermatological manifestations of dermatomyositis
(shawl rash, gottron’s papules, photosensitivity, peri-ungual erythema, heliotrope rash, peri-
orbital oedema).
▪ Feel for temporal artery tenderness.
▪ Arm strength.
▪ Ask patient to rise from sitting.
▪ Assess strength of forced neck flexion.
▪ Check reflexes.
▪ If time: Perform a full neurological examination of the cranial nerves, upper limbs, lower limbs
for the weakness, and respiratory and abdominal examinations for any possible underlying
malignancy and interstitial lung disease. In a woman, offer to perform a breast examination.
Investigations:
▪ Bedside tests: Vital capacity (if respiratory muscle involvement suspected).
▪ Bloods: Creatinine kinase (raised), ESR/CRP (raised), anti-nuclear antibody and anti-Jo1 and anti-
Mi2 (positive), TFTs (low or high), morning cortisol (high), vitamin D level (low), fasting
glucose (high), FBC (anaemia), bone profile (hypercalcaemia), LFTs (deranged).
▪ Imaging: Chest radiograph (lung mass), CT CAP (underlying malignancy).
▪ Special tests: Electrophysiology including nerve conduction studies and

electromyography (), muscle biopsy (to diagnose conditions like polymyositis, dermatomyositis
and inclusion body myositis).
Treatment:
▪ Non-pharmacological: Education, support, physiotherapy, occupational therapy, speech and

language therapist, social services assessment, avoid precipitants.
▪ Medical: Correct endocrine abnormalities, consider steroids and steroid sparing agents for
immune causes.
▪ Surgical: Resection of underlying malignancy.
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Primary pulmonary hypertension

Scenarios: Breathlessness, reduced exercise tolerance, cough including haemoptysis, ankle swelling,
chest pain.
Questions to ask:
▪ Do you find you get breathless – when, for how long, any wheeze, cough, sputum, blood, worse
on lying down, how does this affect day to day activities?
▪ Any chest pain – where, quality, severity, spread, associated symptoms, duration, what brings it
on, what seems to help when having the pain?
▪ Any ankle swelling or waking up at night with breathlessness or chest pain?
▪ Any calf pain?
▪ Any joint pains, rashes, or red eyes?
▪ Do you have any other medical problems – specifically, any childhood infections, rheumatic
fever, blood clots in the legs or lungs, joint problems, longstanding lung problems?
▪ Are you taking any medications – specifically, oral contraceptives or diet medications?
▪ Is there any health problems that run in the family?
▪ Who’s at home with you – if a partner is present – do they ever say that you snore at night or
stop breathing?
▪ Any chance you could be pregnant right now or are you planning to get pregnant any time soon?
▪ Do you smoke, ever smoked, drink alcohol or take recreational drugs or alternative therapies?
▪ Have you ever been in contact with TB?
▪ Any thoughts about what this could be, or any particular concerns you would like me to address?
▪ Parenchymal lung disease: COPD (including alpha-1-antitrypsin disease), pulmonary fibrosis,

bronchiectasis.
▪ Pulmonary vascular disease: Primary pulmonary hypertension, secondary pulmonary

hypertension (thromboembolic, parenchymal lung disease, autoimmunity, left sided cardiac
disease, thoracic cage abnormalities, obstructive sleep apnoea, sickle cell disease).
▪ Cardiac disease: Congenital heart disease, constrictive pericarditis.
Systems to examine:
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▪ Cardiac: Features of cor pulmonale with raised jugular venous pressure, right ventricular heave,
loud P2, PSM of TR, EDM of PR, peripheral oedema; features of other cardiac pathology
(murmurs, added sounds, displaced apex).
▪ Respiratory: Wheezes and crepitations suggesting underlying lung disease.
▪ Cutaneous and musculoskeletal: Rashes, tender and swollen joints.
Investigations:
▪ Bedside tests: Oxygen saturations (hypoxia), arterial blood gas (hypoxia,

hypercapnia), electrocardiogram (right heart strain, atrial fibrillation), if they are a young female
also request a pregnancy test (high morbidity and mortality associated with pregnancy those
with pulmonary hypertension).
▪ Bloods: FBC (polycythaemia), U&Es (prior to treatment), LFTs (prior to anti-

coagulation), clotting (prior to anticoagulation, identify pro-thrombotic
tendencies), CRP/ESR (infection or inflammation), autoimmune screen (underlying
cause), thrombophilia screen (if recurrent thrombi-emboli are the cause), haemoglobinopathy
screen (sickle cell disease).
▪ Imaging: Chest radiograph (prominent pulmonary vasculature at the hila with peripheral
pruning), echocardiogram (pulmonary artery systolic pressure, right ventricular hypertrophy,
right sided regurgitant valves, secondary causes of pulmonary hypertension such as mitral
stenosis), high resolution computed tomography of the chest or pulmonary angiogram or VQ
scan (parenchymal lung disease, recurrent thromboemboli).
▪ Special tests: Spriometry (reduced lung transfer), cardiac catheterisation with vasodilator
testing (to confirm diagnosis, exclude other causes including left-right shunts, determine further
management).
Treatment:
▪ Non-pharmacological: Education and signpost to support groups and further information, avoid
exacerbating factors (e.g.: pregnancy, oral contraceptive pill, hormone replacement therapy,
smoking), pneumococcal and annual influenza vaccine.
▪ Medical: Anti-coagulate with warfarin and consider diuretics if peripheral oedema; if beneficial
response to vasodilator testing on cardiac catheterisation offer long acting calcium channel
blockers; additional treatment measures include prostacyclin infusions, endothelin receptor
antagonists, and sildenafil; long term oxygen therapy.
▪ Surgical: Combined heart-lung transplant.
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Ankylosing Spondylitis
Scenarios: Back pain, back stiffness.
Questions to ask:
▪ When is the pain and stiffness worst, does this stiffness last longer than 30 minutes in the
morning?
▪ Which part of the back is affected and are there any other joints affected?
▪ How long ago did you first notice symptoms?
▪ Any inflammation or redness in the eyes?
▪ Any skin rashes?
▪ Any shortness of breath or dry cough?
▪ Any chest pain, palpitations, ankle swelling or shortness of breath lying flat at night?
▪ Any problems with tendonitis – for example, pain or swelling at the back of the ankle?
▪ Were there any infections prior to the pain starting – for example a diarrhoeal illness or
discharge and pain from the penis/vagina?
▪ Do you have psoriasis or inflammatory bowel disease? Does anyone in the family suffer from
these or other joint problems?
▪ Has anyone mentioned a heart mumur, lung fibrosis or kidney problems?
▪ Are you on any medications? What painkillers have you used? Have you ever tried tablets like
ibuprofen or diclofenac – and if so do they cause you any problems like heartburn? Any allergies?
▪ Do you smoke or drink or take recreational drugs?
▪ What do you do for work?
▪ How is this problem affecting your day to day life?
▪ Any particular concerns or questions?
Systems to examine:
▪ Inspection: Question mark posture, walking aids, protuberant abdomen.
▪ Back: Cervical (lordosis), thoracic (kyphosis), lumbar spine movements (loss of normal lumbar
lordosis), sacroiliac joint tenderness; wall-to-occiput distance, Schrober’s test (dimples of venus,
5cm below, 10cm above, bend forward, positive if <5cm expansion), chest expansion.
▪ Respiratory: Lung apices for fine end-inspiratory crepitations.
▪ Cardiovascular: Early diastolic murmur and displaced apex due to aortic root dilatation.
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▪ Skin: Extensor aspects and nails for features of psoriasis.
▪ Tendons: Achilles tendonitis.
▪ HLA B27 associated arthropathies: Psoriatic arthropathy, reactive arthritis, inflammatory bowel
disease associated arthopathy.
▪ Osteoarthritis, mechanical back pain.
▪ Malignancy.
▪ Diffuse Idiopathic Skeletal Hyperostosis (DISH).
▪ (Alkaptonuria if dark urine on standing, pigmentation of pinna etc)
Investigations:
▪ Bedside tests: Blood pressure (widened pulse pressure), electrocardiogram (AV conduction
blocks), urine dipstick (proteinuria), oxygen saturations (hypoxia).
▪ Bloods: FBC (anaemia), ESR/CRP (raised), U&Es (reduced secondary to amyloidosis or NSAID
use), HLA B27 (positive).
▪ Imaging: Plain films (syndesmophytes, bamboo spine, SI joint sclerosis), MRI spine (early
evidence of inflammation), chest radiograph (apical shadowing), high resolution CT chest (apical
pulmonary fibrosis), echocardiogram (aortic root dilatation, aortic regurgitation).
▪ Special tests: Spirometry (restrictive lung defect).
Treatment:
▪ Non-pharmacological: Education, advice, signpost to AS society, refer to rheumatology and

rheumatologist specialist nurse, physiotherapy and encourage exercise (e.g.: swimming,
hydrotherapy), monitor for associated conditions like cardiovascular disease and osteoporosis
and fracture.
▪ Medical: Analgesia (NSAIDs if tolerated, paracetamol, amitryptilline), steroids (oral, IM, IA),
DMARDs not typically used as not effective as they are in RA etc, biologics (adalimumab,
etanercept, golimumab; NICE states patient should have used at least 2 NSAIDs at maximal
tolerated dose, have BASDAI and VAS scores >4 on two separate occasions at least 3 months
apart etc to meet criteria).
▪ Surgical: Joint replacement, osteotomy.
Questions:
1. What are the causes of shortness of breath related to the patients underlying ankylosing
spondylitis? Apical pulmonary fibrosis, restriction of chest expansion, tuberculosis or other
infections secondary to immunsuppressants like anti-TNF agents.
2. What are the renal complications? NSAID use, amyloidosis, IgA nephropathy.
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3. What are the diagnostic criteria? The modified New York criteria.
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Chronic Tophaceous Gout

Scenarios: Joint pain, joint swelling, joint disfigurement, painful lumps in skin.
Questions to ask:
▪ Do you suffer from joint pain, swelling, and redness – which joints, speed of onset (very quick –
over a few hours), severity of pain (worst pain ever), duration of pain (1-2 weeks), precipitating
factors?
▪ How old were you when these episodes started, how many a year?
▪ Any fevers, night sweats, weight loss, or have you felt any lumps or bumps?
▪ Do you have any other medical problems – specifically high blood pressure, high cholesterol,
kidney disease (dialysis?)?
▪ What medications do you take – specifically do you take any water tablets or aspirin?
▪ Are there any medical conditions that run in your family?
▪ Do you drink alcohol (beer?) or smoke?
▪ Do you drink fizzy drinks? Do you eat red meat and seafood?
▪ Any recent travel?
▪ Any particular worries or questions for me?
Systems to examine:
▪ Cutaneous: Tophi – look at the hands, elbows, helix of the ears, achilles tendons and toes;
xanthelasma (hypercholesterolaemia in keeping with metabolic syndrome); finger prick glucose
testing marks.
▪ Musculoskeletal: Look in particular at the commonly affected joints – 1st metatarsophalangeal

joint, mid-foot, ankle, knee, fingers, wrists, and elbows; asymmetrical pattern; additionally
wasting of dorsal interossei if severe suggestive of disuse atrophy.
▪ Septic arthritis.
▪ Psuedogout.
▪ Psoriatic arthritis.
▪ Calcinosis.
▪ Gout:
▪ Purine overproduction: myeloproliferative and lymphoproliferative disorders, psoriasis,

chemotherapy.
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▪ High purine diet: red meat, seafood.
▪ Reduced urate excretion: Renal failure, diuretics, ACE inhibitors.
Investigations:
▪ Bedside tests: Joint aspiration (monosodium urate crystals, negatively birefringent

needles), urine dipstick (calculi), blood pressure (CVD risk assessment), finger prick glucose (CVD
risk assessment), BMI (CVD risk assessment), electrocardiogram (CVD risk assessment).
▪ Bloods: FBC (raised inflammatory markers), CRP/ESR (raised acutely), serum urate (don’t test
acutely, it’s use is in long term management, aiming for a urate of less <300 to reduce flares and
dissolve tophi), U&Es (renal impairment a common risk factor), lipids (CVD risk
assessment), LFTs (baseline pre-allopurinol and detection of NAFLD as part of CVD risk
assesment).
▪ Imaging: Plain radiographs of the joints (punched out erosions and tophi, relative absence of
periarticular osteopaenia and joint space narrowing).
▪ Special tests: HPRT level (Lesch Nyhan and Kelley Seegmiller).
Management:
▪ Non-pharamcological: Education, support, rest and ice during acute phase, physiotherapy,
occupational therapy, dietician advice regarding diet and importance of hydration, avoid crash
diets, limit alcohol intake, consider amending other mediciations (eg. Low dose aspirin ok, if on
diuretics for hypertension switch to alternative agents, but may need continuing in CCF).
▪ Medical: Acute attack NSAIDs (indomethacin, naproxen), colchicene (often limited by D&V;
check drug interactions first), intra-articular steroids (kenalog), oral steroids (30mg prednisolone
for 5/7); long term management should start 2-4 weeks after acute attack and aim to get serum
urate <300micromol/L (as low as possible initially to facilitate the quickest resolution of tophi)
with agents that reduce urate production (allopurinol, febuxostat) or those that increase urate
clearance (sulphinpyrazone if normal kidneys or benzbromarone if impaired renal function)
ideally with NSAID or steroid cover. Typically people start with allopurinol 100mg PO OD and
titrate up according to urate levels monthly.
▪ Surgical: Joint replacement.
Questions:
1. What congenital forms of hyperuricaemia and gout are there? Lesch Nyhan Syndrome
(intellectual impairment, lip and finger biting) and Kelley Seegmiller Syndrome.
2. Why do we have a target for urate levels below 300? This takes you below the saturation
threshold for urate and thus reduces the chance of crystallisation in joints and soft tissues.
3. When would you advocate starting a medication like allopurinol? Patients in whom it should
definitely be considered are those with erosions on radiography, tophi, nephropathy, recurrent
attacks or with HGPRT deficiency diseases. In others, there should be a discussion with the
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patient if they have an attack as there is some evidence to support starting therapy early whilst
total urate load low and no long term damage to joints.
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Dermatomyositis and Polymyositis

Scenarios: Muscle weakness, muscle pain, rashes, sunburn, weight loss.
Questions to ask:
▪ Do you have muscle weakness or muscle pain – when did it start, how has it progressed, which
muscles are affected?
▪ Any difficulty swallowing?
▪ Any colour change in the fingers when you go into the cold?
▪ Have you had any rashes – where, affected by sunlight?
▪ Have you had any problems with your vision, pain when chewing food, or pain in the scalp or
headache?
▪ Have you had any weight loss, night sweats, or noticed any unusual lumps or bumps?
▪ Have you had a cough, chest pain or shortness of breath and palpitations?
▪ Have you had problems swallowing, abdominal pain, change in your bowel habit or blood in your
stool?
▪ Have you noticed twitching of the muscles, numbness, or any pins and needles sensations?
▪ Do you have any other medical problems?
▪ Are you on any medications or have any allergies?
▪ Is there a family history of any problems?
▪ Do you smoke, drink alcohol, or take recreational drugs?
▪ How are the symptoms affecting your day-to-day life?
Systems to examine:
▪ Cutaneous: Nail fold telangiectasia, gottron’s papules, mechanics hands (hyperkeratosis),

calcinosis, photosensitive rashes, telangiectasia, heliotrope rash, peri-orbital oedema, non-
scarring alopecia; also look for muscle biopsy sites and Cushingoid features such as a rounded
face, acne, hirsuitism, intrascapular fat pad, purpura, thin skin, finger prick glucose testing
marks.
▪ Musculoskeletal: Proximal myopathy and muscle tenderness, athralgia.
▪ Respiratory: Bi-basal inspiratory creptiations.
▪ Muscle:
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▪ Inflammatory: Giant cell arteritis or other connective tissue disease.
▪ Endocrine: Thyroid dysfunction, cortisol dysfunction.
▪ Metabolic: Vitamin D deficiency, hypokalemia, diabetic amyotrophy.
▪ Iatrogenic: Statins, steroids.
▪ Degenerative: Motor neurone disease, inclusion body myositis.
▪ Cutaneous:
▪ Inflammatory: Systemic lupus erythematosus, mixed connective tissue disease,

scleroderma.
▪ Lichen planus, psoriasis, peri-orbital dermatitis.
Investigations:
▪ Bedside tests: Finger prick glucose (steroids causing hyperglycaemia), ECG (myocardial
involvement), bedside vital capacity (if dyspnoeic to rule out respiratory muscle weakness).
▪ Bloods: FBC (anaemia), CK/ALT/AST/LDH (myositis), CRP/ESR (raised), ANA and anti-Jo1
antibodies (positive in some patients), LFTs (malignancy screen), bone profile (malignancy
screen).
▪ Imaging: CXR (fibrotic changes or primary lung lesion), if over 40 I would consider malignancy
screen such as CT chest, abdomen and pelvis (masses, lymph nodes).
▪ Special tests: Electromyography (spontaneous fibrillation, short duration polyphasic potentials

of low amplitude, bursts of repetitive potentials), muscle biopsy (interstitial and perivascular
infiltration, with muscle phagocytosis and necrosis), spirometry (restrictive lung defect).
Management:
▪ Non-pharmacological: Education, support groups, physiotherapy, occupational therapy, speech

and language therapy, sun creams and avoidance of sunshine.
▪ Medical: Steroids (eg: prednisolone 1mg/kg PO OD), steroid sparing agents (methotrexate), IV
immunoglobulin.
▪ Surgical: Resection of underlying malignancy.
Questions:
1. What malignancies are associated with dermatomyositis? Breast, ovaries, lungs and GI tract.
2. What is the anti-synthetase syndrome? The presence of anti-Jo or anti-SRP (to name two of
many ‘anti-synthetase’ antibodies) with interstitial lung disease and dermato- or polymyositis.
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Paget’s Disease
Scenarios: Abnormal blood test, pain, warmth, fracture.
Questions to ask:
▪ When did your symptoms start, how have they changed since then?
▪ Do you have any pains in the bones or joints?
▪ Do you have any tingling, numbness, weakness or changes in your vision, hearing, speech or
swallowing?
▪ Any headaches?
▪ Any ankle swelling, shortness of breath, breathlessness lying flat, waking up at night gasping for
air, palpitations or chest pain?
▪ Any other problems you see a doctor for, any previous operations, any broken bones?
▪ What medications are you taking at the moment, ever taken vitamin D supplements, any
allergies?
▪ Any medical problems run in the family?
▪ Who’s at home with you, how are you managing, any carers or help around the house?
▪ Do you smoke, ever smoked, drink alcohol, or take recreational drugs?
▪ Do you have any particular worries or questions you would like to ask me?
Systems to examine:
▪ Musculoskeletal: Look for classic sites of abnormality such as tibia (sabre tibiae, ie: bowing of
the tibia), frontal bossing, kyphosis; feel for any warmth or tenderness (only present very
occasionally).
▪ Neurological: Deafness (secondary to cranial nerve VIII compression or fixation of the ossicles).
▪ Skeletal metastasis: Cachexia, hepatomegaly, evidence of a primary, significant pain.
▪ Osteoarthritis: More definite localisation to a particular joint, slow onset, pain.
▪ Osteoporoisis and osteomalacia.
Investigations:
▪ Bloods: Bone profile (normal unless recent history of immobilisation when hypercalcaemia can
develop, also important to rule out low calcium before starting a bisphosphonate), LFTs
including GGT (isolated, marked elevation in ALP), vitamin D (osteomalacia as a differential and
to ensure levels normal pre-bisphosphonates),
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▪ Imaging: Plain radiographs (mixture of lytic and sclerotic lesions), bone scan (increased
uptake, assessing the extent of disease).
▪ Special tests: Bone biopsy (for histological analysis if sarcomatous change suspected).
Treatment:
▪ Non-pharmacological: Educate about the diagnosis, physiotherapy, occupational therapy,

walking aids, hearing aids.
▪ Medical: Analgesia; disease specific treatment if symptomatic or sometimes if very high ALP, is
with a bisphosphonate.
▪ Surgical: Fixation of tumours, excision of tumours.
Questions:
1. What are the complications of Paget’s disease? Pain, pathological fracture, sarcomatous change,
high output heart failure, compression neuropathies resulting in symptoms like weakness or
deafness, spinal stenosis and compression causing paraplegia, hydrocephalus.
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Psoriatic Arthropathy
Scenarios: Rash, joint pain, back pain.
Questions to ask:
1. When did the rash start and how has it progressed since then?
2. Is the rash sore, painful or itchy?
3. Where does it affect – elbows, knees, scalp, bellybutton, between your buttocks, ears, sites of old
scars?
4. Have you noticed any nail changes?
5. Have you noticed any joint pain, stiffness or swelling – which joints, when are they most painful,
how long does stiffness last in the morning, is the lower back affected?
6. Have you had any redness or pain in the eyes?
7. What makes it better or worse?
8. Do you smoke, drink alcohol or have you started any new medications recently?
9. Do you have any other medical problems? Are you taking any medications or creams?
10. Does anyone in the family have skin problems, bowel problems or arthritis?
Systems to examine:
▪ Dermatological: Erythematous plaques with a scaly surface predominantly over the extensor
aspects, scalp, navel and natal cleft which may demonstrate Koebener’s phenomenon; pitting
and ridging of the nails with subungual hyperkeratosis and nail plate dystrophy.
▪ Musculoskeletal: Asymmetrical arthropathy affecting the DIPJs, large joint oligoarthritis,

dactylitis, spondylitis, rheumatoid-like, arthritis mutilans, tendonitis.
▪ Ocular: Conjunctivitis, anterior uveitis.
▪ Cardiovascular: Aortic regurgitation (mostly in those with co-existent ankylosing spondylitis).
▪ Respiratory: Apical lung fibrosis (if ankylosing spondylitis also present), basal lung fibrosis (if the
patient is taking methotrexate).
▪ Joint disease: Seronegtive (ankylosing spondylitis, inflammatory bowel disease associated

arthritis, reactive arthritis related to diarrhoeal or sexually acquired infections), crystal (gout),
degenerative (osteoarthritis including nodal OA).
▪ Skin disease: Eczema, fungal skin infections, lichen plans, discoid lupus.
Investigations:
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▪ Bedside tests: Urine dipstick (proteinuria of amyloidosis, pregnancy test if on

immunsuppressants).
▪ Bloods: FBC (anaemia, raised WCC), CRP/ESR (markers of inflammation), U&Es (use of
NSAIDs), LFTs (baseline pre-immunsuppressants started), HLA B27 testing (seronegative
spondyloarthropathies).
▪ Imaging: Plain radiographs of joints (erosions, pencil-in-cup deformity, ankylosis and

subluxation, periosteal new bone formation), musculoskeletal ultrasound or MRI (early joint and
soft tissue inflammation).
▪ Special tests: Biopsy (epidermal hyperproliferation and infiltration of inflammatory cells).
Management:
▪ Non-pharmacological: Education, smoking cessation, reduce alcohol intake, stop exacerbating

medications, physiotherapy, occupational therapy.
▪ Medical: Topical agents for skin disease (emollients, steroids, vitamin D analogues, coal tar,
dithranol), phototherapy (UVB, PUVA/psoralen plus UVA; the latter carries an increased risk of
SCC and photoageing), systemic oral medications (methotrexate, sulfasalazine, cyclosporin A,
acitretin), biologic immunsuppressants (anti-TNF, anti-IL 12/23 like ustekinumab or anti-IL17 like
secukinumab). Future therapies could include PDE4 inhibitor like apremilast Like other
inflammatory conditions there is an increased incidence of cardiovascular disease, so modifiable
risk factors should be addressed.
▪ Surgical: Joint replacements.
Questions:
1. What medications may precipitate a flare of psoriasis? Lithium, beta blockers, anti-malarials
(e.g.: HCQ causing an exfoliative dermatitis), and during the withdrawal of systemic steroids. The
latter can lead to generalised pustular or erythrodermic disease – as a result, steroids only tend
to be used topically or intra-articularly in psoriasis.
2. What types of psoriasis are there? Plaque, pustular, guttate, flexor, erythrodermic.
3. What infection commonly precipitates an attack of guttate psoriasis? Group A beta-haemolytic

streptococcal infection, otherwise known as streptococcus pyogenes.
4. What is Auspitz’s sign? Small punctuate areas of bleeding on the plaque where the scale has
come off and revealed the enlarged dermal capillary.
5. How would you advise a patient to manage an acute flare up of their joint pain?
▪ Non-pharamcological: Cold/ice (to hot and swollen joints), warm baths or compresses
(to tender and aching joints and muscles), physiotherapy to maintain mobility and
muscle strength, intermittent use of splints (e.g.: at night) to rest painful joints.
▪ Medical: NSAIDs if tolerated (+/- PPI), can also use paracetamol and codeine, steroids
will rapidly reduce disease activity but need to be used with caution due to the risk of
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precipitating pustular or erythrodermic disease on withdrawal, the best option is an IA

injection with concomitant aspiration of fluid to relieve pain but if more widespread and
small joint involvement, oral or IM may be an option (consider discussing with
rheumatology first).
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Rheumatoid Arthritis
Scenarios: Joint pain, joint swelling, joint deformities, aches, shortness of breath.
Questions to ask:
▪ Do you have joint pains – which joints are affected, when is the pain at its worst, do they ever
become hot or swollen, do they feel stiff in the morning and how long does this stiffness last?
▪ Do you take pain killers – which ones, do they help, if you’ve used things like ibuprofen did they
give you any heartburn?
▪ Have you noticed your eyes being red, painful, or dry and gritty?
▪ Have you had any rashes or noticed any lumps and bumps?
▪ Have you had any shortness of breath, cough or chest pain?
▪ Any recent infections?
▪ Do have any other medical problems, are you on any medications?
▪ Are there any conditions that run in the family?
▪ Who’s at home with you and how are you coping at home, do you have any adaptations in place
to make things easier?
▪ Are you still working, when did you retire, what made you stop?
▪ Do you smoke, ever smoked, drink alcohol or use recreational drugs?
▪ Do you have any questions or particular worries that you would like me to address today?
Systems to examine: For this routine, start at the hands, checking there are no psoriatic nail changes
given that this is your main differential, and work your way down the joints, look dorsal and feel the
joints and radial area sensory, check for synovitis, check for nodules on the extensor surface of the arms,
then as they place the hands back down get them to do it so you’re now looking at the palms, check
again for scars, wasting, erythema, and check sensation and capillary refil time, move on to function by
asking them to copy movements like grip, finger pincer and wrist movements, before asking them to do
specific tasks like writing or doing a button. Once you’ve satisfied yourself that this is a symmetrical
deforming polyarthropathy of the small joints of then hands – move up to the eyes for dryness and
conjunctival pallor, sit them forward and look behind the ears and in the hairline for psoriatic rashes,
check the neck for scars from atlantoaxial subluxation, and listen at the lung bases for fibrotic changes,
then lie them flat and try to feel if there is any splenomegaly before checking the shins for ulceration
and rashes.
▪ Cutaneous: Vasculitic rashes, nail fold vasculitis, palmar erythema, rheumatoid nodules at the
elbows, erythema nodosum, pyoderma gangrenosum.
▪ Musculoskeletal: Symmetrical arthropathy of the small joints of the hands with ulnar deviation
and dorsal subluxation, z-thumb, boutonier’s and swan neck deformities, wasting, features of
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carpal tunnel syndrome (thenar wasting, weakness of thumb abduction and opposition, sensory
loss over lateral 3.5 digits on palmar aspect, positive Tinel’s and Phalen’s tests, carpal tunnel
release scar); comment on the presence or absence active synovitis, and the functional loss
caused by the disease (buttons, writing, grip strength).
▪ Ocular: Erythematous, dry eyes.
▪ Respiratory: Fine end-inspiratory basal crepitations of the lungs; stony dull percussion note,
reduced air entry, and reduced vocal resonance.
▪ Abdomen: Splenomegaly (Felty’s syndrome).
▪ Neurological: Atlantoaxial subluxation can lead to cervical cord compression (spastic quadri- or
para-paresis).
▪ Osteoarthritis, nodal osetoarthritis.
▪ Inflammatory: HLA B27 associated (psoriatic, inflammatory bowel disease associated, sexually
acquired infection or infective diarrhoea related such as reactive arthritis), systemic lupus
erythematosus (usually Jaccoud’s – reducible deformities), sarcoidosis.
▪ Crystal: Gout, pseudogout.
▪ Infective: Septic arthritis (staphylococcus aureus, gonococcal, tuberculous), parvovirus related,

hepatitis, Lyme’s disease.
▪ Rarities: Multicentric reticulohistiocytosis (coral beading around the nail fold), paraneoplastic
(e.g.: hypertrophic pulmonary osteoarthropathy).
Investigations:
▪ Bedside tests: Urine dipstick (proteinuria secondary to membranous nephrotic syndrome or

amyloidosis), temperature (infection), oxygen saturations (lung fibrosis), calculate DAS28 using
phone app (baseline disease activity score, useful for monitoring activity from visit to visit and
response to treatment).
▪ Bloods: FBC (anaemia of chronic disease, raised inflammatory markers, platelets pre-
aspiration), U&Es (NSAID use, pre-immunsuppressants starting), LFTs (pre-immunsuppressants
starting), clotting (pre-aspiration), CRP/ESR (raised), rheumatoid factor (positive, not specific,
very commonly positive in presence of rheumatoid nodules and Felty’s syndrome), anti-cyclic
citrullinated peptide (positive, more specific; test if RF negative); optimise cardiovascular risk
facts such as blood pressure, diabetes and cholesterol as this is the main cause of death in these
individuals.
▪ Imagining: Plain radiographs of the joints (soft tissue swelling, joint space narrowing, erosions,
peri-articular osteopaenia, subluxations, deformities), musculoskeletal USS (soft tissue
swelling), MRI joints (more detailed structural information and early inflammation).
▪ Special tests: Joint aspiration (raised white cell count).
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Management:
▪ Non-pharmacological: Education, information leaflets, support groups, physiotherapy,

occupational therapy, podiatry; specific advice for hot and swollen joints (ice and elevate,
intermittent use of splints), and stiff and achey joints (warm bath or compress).
▪ Medical: Analgesia (pain ladder, topical NSAIDs, oral NSAIDs often useful, consider
gastroprotection and check U&Es), intra-articular steroids, intramuscular steroids (if flare and
waiting for DMARDs to take effect), oral steroids (consider gastroprotection, bone protection,
medic alert bracelets), disease modifying anti-rheumatic medications (start early; methotrexate
plus sulphasalazine, leflunomide, hydroxychloroquine), monoclonal antibody therapies (if x2
DMARDs fail – anti-TNF, anti-IL6, abatacept).
▪ Surgical: Joint replacement, joint fusion, tendon transfer.
Questions:
1. What do you need to tell a patient before they start on methotrexate? Explain that it is not a
painkiller, that it works by reducing inflammation over a longer period of time and prevents
flares from happening and long term joint damage progressing. As a result, we’ll often start it at
the same time as a short course of steroids so that they get the disease under control while we
wait for the methotrexate to kick in. Because it suppresses the immune system they are more at
risk of infections, and simple infections may become more severe than normal, so we would
advise them to seek medical advice early, even for mild infections like a sore throat. Other
common side effects include sickness, diarrhoea, mouth ulcers, and hair loss. Some of these are
improved by changing the dose, and by giving an additional tablet called folic acid. The
methotrexate is taken once a week, followed by a 6 day break. They will need a baseline blood
test and chest x-ray, and then need to have regular blood tests after this. We advise against
drinking lots of alcohol on it, avoiding some vaccinations, and patient’s shouldn’t get pregnant
on it.
2. What diagnostic criteria are used in rheumatoid arthritis? The American College of
Rheumatology criteria can be applied in those with synovitis and a clinical suspicion of RA. They
look at 4 key areas including the number and size of joints affected, the duration if symptoms,
serology (rheumatoid factor or anti-CCP), and elevation of ESR or CRP.
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Sarcoidosis
Scenario: Painful rash, skin changes, eye pain, cough and breathlessness.
Questions to ask:
▪ Have you been feeling more tired and fatigued?
▪ Have you noticed any cough, shortness of breath or wheeze?
▪ Have you had painful eyes or changes in your vision?
▪ Have you noticed any skin rashes?
▪ Have you had any lumps, bumps, weight loss, or night sweats?
▪ Have you experienced headaches, weakness or numbness?
▪ Have you noticed constipation, abdominal pain or changes in your mood?
▪ What other medical problems do you have, are you on any medications, are there any conditions
that run in your family?
▪ What jobs have you had in the past – have you ever been exposed to beryllium?
Systems to examine:
▪ Cutaneous: Erythema nodosum, hypo- and hyperpigmentation, lupus pernio, maculopapular

rashes, nodules, Koebner’s phenomenon (scars, tattoos).
▪ Haematological: Lymphadenopathy, parotid enlargement; Cushingoid appearance.
▪ Ocular: Anterior uveitis, posterior uveitis, optic neuropathy, papilloedema, lacrimal gland
enlargement.
▪ Musculoskeletal: Hot, swollen and/or tender joints, myopathy.
▪ Respiratory: Fine end-inspiratory crepitations anteriorly (upper lobe predilection), wheeze.
▪ Abdominal: Splenomegaly, hepatomegaly.
▪ Neurological: Cranial nerve palsies, meningism (meningeal infiltration and/or inflammation),

peripheral neuropathy, symptoms of a space occupying lesion.
▪ Infection: Tuberculosis.
▪ Haematological: Lymphoma, common variable immunodeficiency (CVID).
▪ Toxic: Beryllium hypersensitivity reaction (dentists, dental technicians, fluorescent lamp

workers, factories, miners etc).
Investigations:
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▪ Bedside tests: ECG (arrhythmia, conduction block), oxygen saturations (pulmonary

involvement).
▪ Bloods: FBC (anaemia), U&Es (high sodium secondary to diabetes insipidus, renal impairment
related to hypercalcaemia and dehydration), CRP/ESR (raised), bone
profile (hypercalcaemia), LFTs (commonly mildy deranged), immunogloblins (polyclonal
gammopathy), serum angiotensin converting enzyme levels (lack sensitivity and specificity).
▪ Imaging: Chest radiograph (bihilar lymphadenopathy, infiltrates), high resolution computed

tomography of the chest (intrathoracic lymphadenopathy, fibrosis), MRI plus gadolinium of
heart or brain (for cardiac and neurological sarcoidosis), gallium-67 scan or PET scan (assessing
extent of disease and monitoring response).
▪ Special tests: Spirometry (restrictive defect, impaired gas transfer), tissue biopsy (skin, lymph
nodes, or via bronchoscopy or mediastinoscopy; non-caeseating granulomas which are negative
for fungi and mycobacteria), slit lamp (posterior uveitis may be asymptomatic), if reporting
palpitations or ECG abnormalities consider echocardiogram, holter monitoring, cardiac magnetic
resonance imaging (rare but risk of sudden death).
Management:
▪ Non-pharmacological: Advice, support, education and often re-assurance.
▪ Medical: Paracetamol and NSAIDs (eg: for Lofgrens), topical steroids (ocular), oral steroids (stage
2 or 3 lung disease with mod-sev or progressive symptoms or deteriorating lung function or
imaging; hypercalcaemia; neurological or cardiological involvement; with bone and
gastroprotection, consider baseline DEXA as long courses often required), immunosuppression
(hydroxychloroquine, methotrexate, azathioprine, cyclophosphamide), biologics (anti-TNF like
infliximab).
Questions:
1. What different forms of sarcoidosis are there?
▪ Lofgren’s syndrome: Erythema nodosum, bihilar lymphadenopathy, athralgia, fatigue

and malaise.
▪ Heerfordt’s syndrome: Uveitis, parotidomegaly, facial nerve palsy.
2. What is the Kveim Test?
3. How do you stage the radiographic findings of the chest in sarcoidosis?
4. What does the Mantoux test usually show in these patients? Typically negative because the
activated T cells that usually cause the reaction are in the lung.
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Scleroderma (Systemic Sclerosis)

Scenarios: Cold hands, joint pains, hand swelling, skin tightness, problems swallowing, shortness of
breath.
Questions to ask:
▪ Do you notice that your hands change colour in the cold – if so, does it go through three colours
of white, blue then red? Is it painful? How much of the hand is affected? How long does it take to
go back to normal? Do you ever develop ulcers as a result? Does it effect other areas such as the
tip of your nose or your ear lobes? When did this start happening? Does anyone else in the family
have this problem?
▪ Have you noticed any skin changes – swollen, tight, difficult to move, cracking?
▪ Have you noticed little red marks on the skin like little visible blood vessels?
▪ Any joint pains or swelling?
▪ Any muscle pains?
▪ Do you have any problems swallowing or experience heartburn and reflux?
▪ Any diarrhoea or constipation, any abdominal pain?
▪ Any shortness of breath or dry cough?
▪ Do you have any other medical problems or are you taking any medications (eg: beta blockers)
or have any allergies?
▪ Any conditions that run in your family?
▪ Do you have any particular concerns?
Systems to examine:
▪ Skin: Swollen extremities (non-pitting), sclerodactyly (localised thinking of fingers and toes –
distal to the MCP or MTP joints), telangiectasiae, calcinosis, hypo- and hyperpigementation,
determine if skin involvement is limited to the face and arms/legs distal to elbows/knees
(localised systemic sclerosis) or involves the trunk and proximal limbs (diffuse systemic
sclerosis), beaked nose, microstomia.
▪ Respiratory: Fine end-inspiratory crackles at the bases that do not change with coughing.
▪ Cardiovascular: Raised JVP, left parasternal heave, palpable P2, loud P2, peripheral oedema.
▪ Dermatomyositis: Mechanics hands, periungal erythema, Gottron’s papules, photosensitivity,

heliotrope rash, proximal myopathy.
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▪ Systemic lupus erythematosus: Malar rash, jaccouds arthropathy, scarring alopecia,

photosensitivity, aphthous ulcers.
▪ Mixed connective tissue disease: Features of SLE, scleroderma and polymyositis.
▪ Chronic graft versus host disease.
Investigations:
▪ Bedside tests: Oxygen saturations (interstitial lung disease, poor peripheral perfusion), arterial
blood gas (interstitial lung disease), blood pressure (scleroderma renal
crisis), urine dipstick (scleroderma renal crisis – although GN rare in renal crisis, so the BP is the
most important measure in scleroderma in contrast to other autoimmune CT
diseases), electrocardiogram (right heart strain – ST depression and/or T wave inversion V1-V3
and III).
▪ Bloods: FBC (anaemia), U&Es (scleroderma renal crisis – if present/suspected also request blood
film for fragments), anti-nuclear antibody (positive in most), anti-Scl70/topoisomerase
I (predictive of renal and pulmonary disease), anti-centromere (limited systemic sclerosis and
increased risk of pulmonary hypertension), anti-RNApolIII (high risk subset with often severe
cutaneous disease and high risk of progression to scleroderma renal crisis).
▪ Imaging: Chest radiograph (reticular shadowing lower zones), high resolution computed
tomography of the chest (ground glass changes, honeycombing, traction
bronchiectasis), echocardiogram (right ventricular hypertrophy).
▪ Special tests: Capillaroscopy (looking for abnormal nail fold capillaries), thermography with cold
challenge (Raynaud’s severity), spirometry (restrictive lung defect, reduced transfer
factor), endoscopy (oesophagitis).
Treatment:
▪ Non-pharmacological: Education (including patient uk and scleroderma society), hand warmers,

avoiding the cold, physiotherapy, occupational therapy, speech and language therapy, smoking
cessation.
▪ Medical: Prokinetics, antacids, PPIs, cyclical antibiotics (SBBO); calcium channel blockers
(nifedipine); phosphodiesterase 5 inhibitors (sildenafil), prostacyclin infusions (iloprost),
endothelin receptor antagonist (bosentan), anti-coagulation, diuretics, long term or ambulatory
oxygen therapy; methotrexate, mycophenolate mofetil, cyclophosphamide (lung fibrosis, skin
tightening); ACE-inhibitors.
▪ Surgical: Lung transplant, contracture release, excision of calcinosis.
Questions:
1. What are the long term risks in those with pulmonary fibrosis? Progressive respiratory failure,
pulmonary hypertension, lung cancer (x5 increased risk), cor pulmonale.
2. What is the typical histological subtype of pulmonary fibrosis in these patients? Non-specific
interstitial pneumonia.
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3. What are the long term risks in those with pulmonary hypertension? Cor pulmonale, pulmonary
thrombosis.
4. Would you use steroids in Systemic Sclerosis? No – very little chance of benefit, and also an
increased rid of infections and renal crisis.
5. How do you investigate GI disease in patients with scleroderma? Depends on the most likely site.
Oesophageal – endoscopy, barium swallow, manometry. Stomach – endoscopy, gastric
emptying studies. Small bowel – hydrogen breath test, MRI or CT enterography, faecal elastase.
Colon – colonoscopy, CT. Anorectal – Proctoscopy and flexible sigmoidoscopy, anorectal
physiology.
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Systemic Lupus Erythematosus (SLE)

Scenarios: Joint and muscle pains, joint swellings, skin rashes, hair loss, mouth ulcers.
Questions to ask:
▪ Have you noticed feeling more tired than normal, or having weight loss or fevers?
▪ Have your joints been hurting – which joints, when is the pain at it’s worst, is there morning
stiffness and if so how long does it last, have they ever been hot or swollen?
▪ Have you had hair loss, mouth ulcers, sensitivity to the sun, or rashes?
▪ Do you notice that your fingers change colour and become painful in the cold?
▪ Have you had chest pain, cough, shortness of breath or palpitations?
▪ How do these symptoms affect your day-to-day life and mood?
▪ Do you have any other medical problems, have you ever had a blood clot or miscarriage?
▪ Are you on any medications? Did you start taking any of these medications just before the
symptoms started?
▪ Is there a family history of any medical problems?
▪ Any recent travel, any contacts unwell, any contact with tuberculosis?
▪ Are you pregnant, breastfeeding, or planning to have a family?
Systems to examine:
▪ Cutaneous: Vasculitic rashes, nail fold vasculitis, hypopigmentation, hyperpigmentation, malar

rash (erythematous rash over the bridge of the nose that spares the nasolabial folds),
telangiectasia, discoid lupus, alopecia, photosensitivity, livedo reticularis.
▪ Musculoskeletal: Jaccoud’s arthropathy (reducible joint deformities).
▪ Ocular: Cytoid bodies, papilloedema.
▪ Oral: Mouth ulcers.
▪ Haematological: Pale palmar creases, pale conjunctivae, lymphadenopathy.
▪ Cardiovascular: Peri-cardial rub; raised jugular venous pressure, right ventricular heave, loud P2,
peripheral oedema; murmurs (Libman-Sacks Endocarditis).
▪ Respiratory: Pleural rub; stony dull percussion note, reduced air entry, reduced vocal resonance.
▪ Iatrogenic: Drug induced lupus.
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▪ Inflammatory: Systemic sclerosis (calcinosis, telangiectasiae, Raynaud’s, sclerodactyly,

microstomia), dermatomyositis (mechanics hands, gottron’s papules, photosensitive rash,
heliotrope rash, features of malignancy), mixed connective tissue disease (features of SLE,
scleroderma, myositis, and Raynaud’s).
Investigations:
▪ Bedside tests: Urine dipstick (proteinuria, haematuria, pregnancy test if young female given
repercussions on the disease and immunsuppressants), blood pressure (hypertension in renal
disease, hydralazine treatment causing drug induced lupus), electrocardiogram (widespread ST
elevation if pericarditis, right heart strain if pulmonary hypertension), calculate BILAG score
using phone app (disease activity measurement to guide activity between clinic visits and
response to treatment).
▪ Bloods: FBC (anaemia of chronic disease, leukopaenia, thrombocytopaenia), U&Es (renal failure,
pre-immunsuppressants), LFTs (pre-immunsuppressants), CRP (if raised suggests
infection), ESR (raised in active disease), ANA (positive, sensitive), ENA (anti-Ro, anti-La, anti-
Smith), anti-dsDNA (positive, specific), complement (low in active disease, complement
deficiencies can predispose to SLE), anti-histone (if drug induced cause suspected), anti-
cardiolipin and lupus anticoagulant (if features of APS on history or examination).
▪ Imaging: Plain radiographs of the joints (typically non-erosive), chest radiograph (effusions,
nodules, infiltrates), echocardiogram (pericardial effusion, sterile valve vegetations).
▪ Special tests: Anti-C1q (raised in active renal disease), urine protein:creatinine ratio (to quantify
proteinuria), urine for red cell casts (glomerulonephritis), skin biopsy (confirm diagnosis), renal
biopsy (stage disease and determines management).
Management:
▪ Non-pharamcological: Advice (tailored to patient e.g.: conception issues in a young female with
SLE), support groups, specialist nurse contact detail, physiotherapy, occupational therapy,
suncream, sunglasses, avoiding the sun, smoking cessation.
▪ Medical: Analgesia (pain ladder – paracetamol, NSAIDs, mild opiates), steroids (with bone and
gastroprotection), hydroxychloroquine (for skin disease and athralgia), methotrexate
(predominantly for skin disease and athralgia) cyclophosphamide (renal and cerebral lupus,
sometimes with pulsed methylprednisolone, prior to maintenance with MMF or azathioprine),
azathioprine (to maintain remission, can be used during pregnancy), rituximab (anti-CD20, if
conventional treatments fail); optimise cardiovascular disease management including
hypertension (ACEi good for proteinuria too), diabetes and hypercholesterolaemia as they are at
high risk of heart attacks and strokes, and it is now the biggest cause of mortality in SLE patients.
▪ Surgical: Renal transplant.
Questions:
1. What medications can cause drug induced lupus? Hydralazine, procainamide, isoiazid.
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2. What does being a slow or fast acylator mean in the context of drug induced lupus? Most
patients who develop drug induced lupus with hydralazine are slow acetylators, leading to the
hypothesis that acetylation inactivates the drug which can build up to significant levels in those
who metabolise it slowly leading to drug induced lupus. Other theories of how drugs cause DIL
are based on the fact that they all undergo oxidative metabolism, leading to free radical
production that may affect immune functioning.
3. How does drug induced lupus differ from SLE? Equal sex distribution, absence of renal
involvement with predominant muscle and joint pains with flu-like symptoms and serositis,
almost all are positive for anti-histone antibodies and complement levels tend to be normal.
4. What should you tell someone with drug induced lupus? Most cases resolve within a couple of
weeks of stopping the medication, in the interim symptoms can be managed with analgesics like
NSAIDs, or even a short course of steroids. The condition can develop months, or even years,
after starting the drug.
5. What is the most concerning complication of hydroxychloroquine therapy? Hydroxychloroquine

retinopathy. This is very rare and mostly seen in those who have been on it for >5 years and at
high dose. Always ask about visual changes and refer for ophthalmology review if concerned.
6. What are the possible causes of anaemia in SLE? Anaemia of chronic disease, NSAID associated
peptic ulcer disease or gastritis, myelosuppression, folate deficiency related to methotrexate
use, B12 deficiency related to co-existent pernicious anaemia, autoimmune haemolytic
anaemia, hypersplenism.
7. What staging system is used for lupus nephritis? WHO classification. The commonest form is
type IV – diffuse proliferative.
8. What is mixed connective tissue disease? Overlapping clinical features of SLE, scleroderma,
myositis and Raynaud’s phenomenon are present. They are usually ANA positive with positive
anti-U1 RNP with additional features like elevated inflammatory markers and CK.
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Communication Skills
Brain Stem Death
Brain stem death: Severe and irreversible damage to a part of the brain called the brain stem, which
normally controls the lung’s breathing and other basic functions needed for life. Unfortunately, when
such extensive damage occurs in this part of the brain there is nothing we can do to reverse the process
or make it better. The only thing keeping the patient alive is the machines which are able to mimic some
of the basic functions of the brainstem for a short time.
Confirming brain stem death: In order differentiate between brain stem death and severe brain
damage. This is confirmed by a Consultant and another senior doctor, who examine the patient on two
separate occasions and test a number of different brainstem functions to see if there is any chance of
recovery. They will look at things like whether the patient can breathe by themselves, or respond
normally to basic stimuli like cold or light. If there is no response to any of the tests the patient is dead,
with the machines supporting them.
Pain in brain stem death: Families can be re-assured that the body is no longer able to feel pain when
the brain stem has died; often the injuries they sustained to the brain were so severe from the
beginning that would not have suffered.
Brain stem death and machine support: In the intensive care unit the patient is being supported, mainly
by a ventilator, that breathes for them. They may also be receiving other medications to maintain other
basic functions. Once the ventilator is turned off they will stop breathing, and shortly afterwards the
heart will stop. (If they stayed on the ventilator the heart would continue to beat by itself for a certain
time whilst the lungs continue to breathe, but it would not continue indefinitely, and eventually the
heart would also stop.)
After the diagnosis: Once brain stem death has been confirmed there is no chance of recovery. The
family should be offered time with the patient to say goodbye, and to have any religious input if they
would like. If the patient is suitable for organ transplant, the family should also be asked regarding this
and the organ donation nurses informed – enquire about being on the donor register, carrying a donor
card, advanced decisions, lasting power of attorney, beliefs and wishes expressed in the past.
Consent Forms
Consent form 1: Adult patient able to consent themselves.
Consent form 3: An optional form that can be used when consenting patients for a procedure that does
not involve any impairment of consciousness. It is a modification of form 1 and form 2 (used in
paediatrics) as it is slightly shorter.
Consent form 4: Adult patient who lacks capacity. The ultimate decision in these situations (unless there
is a valid and applicable advanced decision or an individual with lasting power of attorney) lies with the
Consultant in charge of the patient’s care based on a best interests decision. It is customary to get a
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signature from a family member or friend who has contributed to the discussion and helped
determining “best interests”, however, it should be made clear to families that it is not their decision
(from a legal point of view and because placing the responsibility on their shoulders can lead to
significant anxiety and guilt).
Genetic Testing
Key components of a discussion regarding genetic testing:
▪ Patient must understand how the test is performed (e.g.: a blood test).
▪ There should be a cool off period between your discussion with them and the test itself – during
which time, they should be encouraged to discuss with families and partners, and to read
through any relevant literature or leaflets.
▪ They should receive their results in person, ideally from the person who initially consented
them.
▪ Discuss alternatives (e.g.: screening for breast cancer with mammography).
▪ Make them aware of the benefits of testing:
▪ Early treatment, prevention, screening.
▪ Possibility of pre-implantation genetic testing.
▪ They should be warned about the negative effects of a positive tests:
▪ On life insurance policies and mortgages.
▪ Implications for other family members (who may not wish to know) and the patient’s
children (who will then be recognised to be at risk).
▪ The possibility of an inconclusive test should be raised:
▪ Particularly if an affected family member cannot be tested – in the case of patients with
a strong history of familial breast cancer, negative BRCA1 testing of your patient is less
informative if you don’t know that BRCA1 is the causative genetic problem in those who
have had breast cancer in their family.
▪ Issues of penetrance and other effects of the mutation should be explored:
▪ In Huntington’s, the presence of of mutation means there is a 100% chance of the

disease; but this is not the case in other conditions with incomplete penetrance.
▪ Whilst knowing that you have BRCA1 mutation may allow prophylactic mastectomy to
take place, the patient would then need to consider the increased risk of ovarian cancer
as well.
Possible genetic conditions that may be tested:
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▪ Huntington’s disease: If they have an affected parent, there is a 50% chance (1/2) that they have
the mutation too. If you have the mutation, you will develop the disease. It is recognised that
due to changes in the genes, the children of affected individuals tend to develop symptoms at
an earlier age than their parents. There is no cure, and no treatments that can prevent the
disease occurring. The benefits of testing include the possibility of a negative test (peace of
mind), or the option for pre-implantation genetic testing for future pregnancies. It will not be
able to tell them when the disease will affect them.
▪ Familial breast cancer: The typically tested genes are BRCA1 (lifetime risk 80% of breast cancer,
40% ovarian cancer) and BRCA2 (45%). Different from the above, as in the presence of a
significant family history, a negative test for common genetic causes of breast cancer (e.g.:
BRCA1) does not mean that there is not another genetic mutation or an as yet unrecognised
polymorphism that they have. Markers of risk include a family history of bilateral breast cancer,
male breast cancer and multiple and/or young relatives affected. The other thing to bear in
mind is that these gene mutations often increase the risk of other cancers too – so getting a
positive test and subsequently undergoing bilateral mastectomy, will not prevent their risk of
other cancers (e.g.: ovarian). Women wishing to reduce their risk should lose weight, stop
smoking, reduce alcohol intake, attend all screening programmes, and be aware of the
increased risk of breast cancer but reduced risk of ovarian cancer with the OCP, and increased
risk of breast cancer with progesterone containing HRT.
Organ Donation
Has the patient registered? Opportunities to enlist include getting their driving licence or Boots
advantage card, when signing up to a new GP, or by specifically signing up to the register via telephone,
online or text message. Even if they haven’t signed up, it is wrong to assume that they do not want to be
a donor (despite widespread support for organ donation in the UK, <30% of us are registered). Families
that are initially very against the idea, may change their mind, and many are eventually thankful for
having been given the opportunity and time to consider organ donation and happy that they agreed.
The patient has registered by the family disagree: From a legal point of view, if a patient has signed up
to the organ donor register they are deemed to have given legal consent. However, in reality, it is felt
necessary to obtain consent from loved ones as well, and it would be very unlikely that clinicians would
ever go against the family if they had expressed strong wishes against donation.
The patient hasn’t registered, there is no advanced decision, there is no LPA: Important to speak to
family and friends about the patient’s wishes and beliefs, and what their decision is likely to have been
had they been able to decide themselves. The law then states that it is ultimately the next of kin’s
decision whether or not organ donation is allowed.
The process of organ donation: Ideally a member of the transplant team such as the specialist organ
donation nurses are with you during these conversations. The family should be aware that there are
occasionally reasons why a patient cannot be a donor (e.g: certain cancers and infections, or ongoing
coronial issues) even if they would wish to be, and that as part of the process of preparing for organ
donation additional blood tests will need to be taken screening for infections and tissue type. You
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should inform them that if they do consent, they can withdraw that consent at any time up until the
point that obtaining the organs in theatre has begun.
Presentations
Try to explore and highlight the ethical, legal and professional aspects of the case in your presentation
to the examiner.
1. Withdrawal of support in brain stem death and offering the option of organ donation.
▪ Professional: Breaking bad news (GMC duties of a doctor), organ donation (end of life care).
▪ Legal: Signing up to the organ donor register is deemed sufficient consent, but could be argued
that it does not meet the usual criteria for informed consent (has capacity, has been given
voluntarily, has sufficient information about the procedure, it’s consequences and the
consequence of not doing it) ; looking after a patient who lacks capacity (mental capacity act –
acting in best interests), if it’s a possible coroners case it will need to be discussed with the
coroner prior to the organ donation going ahead, the rules and regulations surrounding organ
donation (human tissue and organ transplantation act).
▪ Ethical: Autonomy (eg: the patient has stated their wishes to be an organ donor by holding an
organ donor card and that wish should be respected), non-maleficience (eg: psychological
distress to the family if you were to go against their wishes if they did not agree to donation,
and the impact of this on their future relationships with medical professionals), justice (eg: there
is a shor tage of organs in the UK and the donation of this patients organs could provide a great
benefit to others).
2. A Jehova’s Witness refusing a blood transfusion.
▪ Professional: Communication skills and maintaining trust (GMC duties of a doctor), respect a
competent patients decision to refuse treatment (GMC patients who refuse treatment).
▪ Legal: Freedom of thought, conscience and religion (article 9 of the human rights act protects the
patients decision in this scenario), the right to life (article 2 of the human rights is relevant to the
duty of doctors to protect the life of an individual), battery (physical contact without consent).
▪ Ethical: Autonomy (eg: respect their decision, but need to make sure you’ve given them all the
information they need to make their decision such as warning hem of the risk of
death), beneficence (eg: respecting their wishes is part of acting in best interests), non-
maleficience (eg: respecting their wishes could ultimately do harm as it would cause their death,
at the same time, not respecting their wishes could have wider societal implications with people
avoiding seeking help due to concerns regarding doctors not listening to them and loss of trust
in the profession).
3. Breaking confidentiality (an epileptic continuing to drive, an HIV positive individual engaging in
unprotected sexual intercourse with their unknowing partner, informing the police of a patient
involved in knife or gun crime.
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▪ Professional: If a patient will not disclose and you deem it in the public interest to protect
someone else from death or serious harm you should inform the patient of the breach,
document the discussion, limit the amount of information disclosed and only to those who need
to know, encourage and support them to do it themselves (GMC confidentiality guidance).
▪ Legal: Right to respect for private and family life (article 8 of the human rights act is applicable to
the person who’s confidentiality is being broken), right to life (article 2 of the human rights act is
applicable to the person or persons whom you are trying to protect such as other road users, or
the partner of the HIV positive patient), reporting gun and knife crime (Crime and Disorders Act
and GMC guidance state that the police should be informed if there is a patient who is armed
with a knife or gun, or has a gunshot wound, or a non-accidental or non-self inflicted knife
wound – you do not initially have to give the patients name and you do not have to allow police
access to the individual immediately if that will delay or prevent the delivery of adequate
medical care, once the police have arrived you must ask the patient if they are willing to speak
to the police and respect their decision if they say no; you may breach confidentiality if it is in
the public interest to prevent death or serious harm or the prevention of serious crime),
patients have a legal right to confidentiality (common law) but this is not absolute,
▪ Ethical: Autonomy (it is the patients decision), beneficence (protecting the other person or
persons from harm is the good thing to do), non-maleficience (breaching confidentiality
prevents others being harmed, but does harm to the trust within the doctor-patient relationship
and may prevent others seeking help), justice (being fair in adjudicating between two competing
claims of the patients confidentiality on one hand and the harm to the other person on the
other).
4. Managing a patient with tuberculosis who lives in a hostel or is homeless.
▪ Professional: Contact tracing in this scenario may require breaches in patient confidentiality but
as above the patient should either be supported in disclosing the risk themselves or if possible
you should facilitate anonymous contact tracing, follow the steps laid out above (GMC
Confidentiality Guidance).
▪ Legal: Public health control of diseases act 1984 (in addition to setting out the need to report
notifiable diseases, it also allows for the detention of an individual who is suffering from a
notifiable disease and who is unwilling or unable to take precautions to prevent the spread of
infection and as such places others at serious risk of infection), right to liberty and
security (article 5 of the human rights law is relevant for the person being detained who is
having their liberty and security taken away), right to respect for private and family life (article 8
of the human rights act is relevant if you are taking the patient away from their family and
work).
▪ Ethical: Autonomy (patients decision to accept or decline treatment), non-

maleficience (preventing harm to the general public by detaining an infectious individual vs the
harm caused to the individual by detaining them), justice (balancing the competing interests of
the patient with he general public).
5. Explaining a DNAR and other end of life decisions to a relative who disagrees.
245 | P a g e
▪ Professional: If there is a disagreement you should explain the reasoning, offer a second
opinion, and consider the use if mediators (GMC end of life care in Good Medical Practice).
▪ Legal: Nutrition and hydration provided by a drip or tube is a medical treatment (Airedale NHS
vs Bland), there is a legal duty for doctors to discuss DNAR discussions with patients (Tracey vs
Cambridge University Hospital which was argued as breaching article 8 of the human rights act
with a right to respect for private and family life).
▪ Ethical: Autonomy (patient should decide what is in their best interests), non-maleficience (a
doctor shouldn’t provide care that will be harmful or not beneficial to a patient).
6. Disclosing a mistake or medical error to a patient or their relatives.
▪ Professional: You must act promptly if you think patient safety, dignity or comfort is being
compromised and you must be honest and act with integrity (GMC Good Medical Practice).
▪ Legal: There may be a claim of medical negligence (to be successful they must establish that the
doctor had a duty of care, that there was a breach of he appropriate standards of care, and that
the breach caused harm), Bolam’s test (doctor is not negligent if they acted in accordance with a
responsible/reasonable body of medical opinion, even if that opinion is in the
minority), Bolitho’s test (the opinion must be able to withstand logical analysis).
▪ Ethical: Non-maleficience (do no harm – recognise that harm has occurred but learn from it and
take positive steps to rectify the problem and prevent it from happening again).
Procedures
General points: The exam may involve you explaining a procedure to a patient (or actor). Try to cover
the following points:
1. General procedure.
2. Benefits of having it done.
3. Risks of procedure.
4. Risks of not having it done.
5. Information leaflet, speak to family, re-discuss at later date, if they feel anxious medications can
be given to relax them.
Coronary angiogram:
1. General: Tube threaded up to your heart from a blood vessel in your groin. Dye injected into the
blood vessels supplying the heart. X-rays taken to show the dye in the blood vessels and identify
any narrowings. If narrowings only minor or absent, the condition can be managed with tablets
and monitoring. If there is a narrowing present, depending on how bad it is, where it is, and how
many of them are present we will hopefully be able to fix the problem there and then by putting
a stent in via the same tube to hold the vessel open. Occasionally, the narrowings would not be
246 | P a g e
easily treated via stents, in which case, we may instead advise further procedures to be done on
the heart in the future. The whole procedure usually takes about 30 minutes.
2. Benefits: Identify how severe the disease is in order to decide on the best management for the
condition in the long term, and hopefully treat any significant narrowings with stents during the
procedure itself.
3. Risks: Tube inserted via a needle, but local anaesthetic given first to numb the area, and no pain
once the tube is actually inside. Because we’re piercing the skin there is always a risk of infection
and bleeding, but this is usually minor and easily treated. We do all we can to prevent this by
cleaning the skin thoroughly beforehand and giving antibiotics if any signs of infection; checking
your blood tests beforehand to identify any bleeding problems and placing firm pressure on the
groin following the procedure to help the blood clot. It is not uncommon for patients to feel a
strange sensation as the dye is injected in, but this passes soon. Very rarely, they have a reaction
to the dye which we would treat like an allergic reaction, or the dye affects their kidneys, but
this usually happens in those who already have poor kidney function. Another very rare
complication is that the tube dislodges some of the cholesterol that is furring up the blood
vessel and this can travel to the brain and lead to a stroke. The chances of this happening, and
then of being a significant stroke that causes a big disability or death is very rare.
4. If they didn’t have it: The reason we would advise this, with all of the above complications in
mind is that it is generally a very safe procedure, and significant complications are genuinely
rare. Many people are able to have this procedure as a day patient and go home the same day.
Left untreated, the furring of the arteries could continue and lead to a heart attack that could
leave your heart very damaged or even kill you. We want to prevent this happening, and treat
the problem before it causes any significant problems, whilst also opening up the blood vessels
so that you no longer get chest pain when you exercise.
Endoscopic Retrograde Cholangio-Pancreatography:
1. General: Can be performed as an investigation, as a means of obtaining samples for biopsy, or as

a treatment (e.g.: removing gall stones, stunting a stricture). The patient is generally sedated,
and some local anaesthetic spray given to the back of the throat. We then insert a tube about
the thickness of a finger into their mouth, down the food pipe, through the stomach, and into
the small bowel. At this point we can access the bile ducts – the tubes which drain bile from the
liver and gallbladder, into the gut, and which also connects to an organ called the pancreas. The
procedure itself usually takes around 30 minutes.
2. Benefits: Diagnose a disease, treat a disease, relieve an obstruction etc.
3. Risks: There are a few things we will do beforehand to minimise the potential risks, including
giving antibiotics at the start of the procedure to reduce the chance of infection, and take a
blood sample to make sure the blood in clotting properly. Once we are doing the procedure it is
worth being aware that sometimes they prove technically difficult – meaning that we fail to
obtain a sample, or to remove a stone or insert a stent. In the long run, the disease can also
recur. In a small proportion of cases there are more severe complications. About 1/25 patients
experience irritation of their pancreas called pancreatitis, which can almost always be managed
247 | P a g e
with treatment on the ward including fluids and antibiotics, but it can be very painful, and can
on very rare occasions, be fatal. Furthermore, about 1/1000 develop a small tear in their gut
lining, a complication that can be very serious, and potentially require surgery.
4. If they didn’t have it: Depends on the underlying cause.
Lumbar Puncture:
1. General: Also called a ‘spinal tap’. This common procedure takes about 20 minutes and can be
done as an inpatient or as a day case. We do it in order to get a sample of the fluid that bathes
the brain and spinal cord, to rule out an infection or bleed in the brain. We do this by getting
you to roll onto your side and curl up your legs, we then clean an area on your lower back and
give you some local anaesthetic. Once that has taken effect we pop a thin needle between the
bones of your spine so we can reach the cavity where the fluid is. Because of the local
anaesthetic it shouldn’t be painful but you might feel some pushing and pulling at the lower
back as I do the procedure. Once we’re in the right spot I’ll let a few drops of the liquid go into
the sample bottles that we send off to the lab, and then I’ll remove the tube and put a dressing
over it. After it I’ll get you to lie down for a couple of hours, give you some painkillers and make
sure you get plenty of water or tea to drink. We’ll need a blood test to be taken sometime
around the time of the spinal tap to do some special tests and compare them to the fluid from
the spine. We should have the results available for you in about 6 hours.
2. Benefits: Confirm the presence of a bleed or infection so we can give you the right treatment.
3. Risks: Because we’re putting a needle through the skin there is always a risk of bleeding and
introducing infection but we reduce this by checking your blood tests beforehand to make sure
you blood is clotting properly, and we perform the technique in a sterile manner. The main
problem we tend to find in our patients is that after the procedure they report a headache – it
affects about 4 out of every 10 patients who have it done, usually its easily manageable with
simple painkillers and will get better over a couple of hours or days. Also, sometimes, we may
touch a nerve during the procedure and if this happens you will feel a sharp feeling run down
your leg. If that happens, let us know and we can change the position of the needle straight
away for you. Very occasionally we are unable to find the right spot in your spine to get the
sample – if this happens, we will try to re-adjust our position and this usually works.
Starting a new treatment

Anti-tuberculous therapy: The four key medications, their baseline tests, monitoring and side-effects
are:
▪ Rifampicin: 6 months. Liver dysfunction – warn patients to seek medical advice urgently if they
notice yellowing of skin or eyes, fever, feeling sick, or itching – re-assure that mild transaminase
disturbance is common at the start of treatment. Tears and urine become orange coloured.
▪ Isoniazid: 6 months, with pyridoxine if at high risk of neuropathy (alcoholic, diabetic, CKD, HIV,
malnutrition). Liver dysfunction, neuropathy – warn patients to report numbness of tingling in
the arms and legs.
248 | P a g e
▪ Pyrazinamide: 2 months. Liver dysfunction.
▪ Ethambutol: 2 months. Document visual acuity with a Snellen chart before starting therapy.
Visual disturbance – warn patients to stop medication and seek medical advice urgently if they
notice loss of vision or specific loss of colour vision.
Special situations to consider:
▪ Homelessness: Ideally therapy is given at home, but may need to be in-patient (in negative
pressure side-room) or as part of Directly Observed Therapy (DOTs; thrice weekly therapy makes
this easier to do). If a patient cannot be adequately monitored and refuses to stay in-hospital,
they may be kept their against their will as part of the Public Health (Control of Diseases) Act
1984.
▪ Alcoholics: Involve the alcohol liaison team, monitor more frequently for liver dysfunction, give
pyridoxine prophylaxis from the beginning.
▪ Patients on other medications: Rifampicin will interfere with contraceptives, warfarin, steroids,
and anti-epileptics.
Additional issues to address in a consultation related to this:
▪ HIV testing.
▪ Contact notification and informing Public Health England.
▪ Informing their GP.
Hormone replacement therapy (HRT): Clarify the symptoms the patient is experiencing (hot flushes, dry
skin, itchiness, urinary infections, dyspareunia, low mood) and their personal/family history (strokes,
heart attacks, clots in leg and lung, breast cancer, osteoporosis). Check when they had their last period
and if they have undergone a hysterectomy. Then go through:
▪ Benefits: Reduced symptoms, increased bone strength.
▪ Route: Systemic (tablet, patch, implant), local (creams, pessaries, rings).
▪ Alternatives: Vaginal lubricants, SSRIs, complimentary therapies (beware, some contain

oestrogen analogues), reducing alcohol, stop smoking; also tibolone (oestrogen, progesterone,
androgens).
▪ Combined or oestrogen only: The latter should only be used by women who have had their
uterus removed otherwise there is a high risk of endometrial cancer.
▪ Cyclical or continuous: If women are still having periods you can give it cyclically to give a
withdrawal bleed.
▪ Expected side-effects: Breast tenderness, nausea, leg cramps – tend to settle after a few months;
skin irritation from patches.
▪ Dangers: Typically increase with high doses, and longer courses of treatment – include breast
cancer and thromboembolism, possibly heart attacks and strokes.
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Non-invasive ventilation:
▪ A way of helping you breathe using a tight fitting mask at those times when your disease has
become so severe that breathing feels difficult, the muscles of breathing get tired, and waste
gases start building up in your lungs. The mask supports your breathing to give the muscles a
break and help get rid of the waste gases and increase the amount of oxygen your lungs take in.
Whilst it doesn’t breathe for you, it will help each breath you take. Patients often find it strange
to start with as you will feel a bit of resistance as you breathe out – this is just to keep the
airways open, and you will find that you will get used to this feeling with a bit of time. For the
first 24 hours you’ll need to wear it as much as possible, and we will check your response to
treatment with regular examination and blood tests. After 24 hours we hope to have given your
muscles the break they needed and can start reducing the amount of time you need to spend on
the machine. If it works, most people can expect to be on the machine for a couple of days more
after this.
▪ Indications: Decompensated type 2 respiratory failure with PaCO2 >6 and pH <7.35 following 60
minutes of maximal medical therapy which would include steroids, nebulisers, and possibly
antibiotics. They should be conscious and able to protect their airway.
▪ Before starting: Explain the above and establish what will happen if this doesn’t work – for
example, ceiling of care, resuscitation decisions, and if appropriate, ITU input. If pH is <7.26
decisions regarding intubation should be made urgently.
▪ Starting therapy: Explain that you will start them on a low pressure setting (IPAP 10cmH2O,
EPAP 4cmH2O) to make it easier to get used to, and then gradually increase (IPAP target
20cmH20). The final decision should be made by a doctor who is ST2 or above.
▪ Making escalation decisions: These should be based on patient wishes, pre-morbid state,
reversibility of acute illness, and the presence of any possible contraindications.
▪ Monitoring: ABG 1 hour after starting and any changes in settings, repeating in a further 4 hours
if patient does not look to be improving clinically. If a patient continues to deteriorate after
having had 4 hours of NIV – you should start planning for intubation if this has been agreed as
being appropriate.
▪ Palliation: Opiates, benzodiazapines, sometimes, people use ongoing NIV to relieve symptoms
but it’s usually stopped.
Transport Rules
General information on driving: It is the patient’s duty to inform the DVLA of the changes in their
health, it is your duty to tell the patient this and ensure they understand why. If you were to find out
that the patient was driving despite this advice, you should discuss it with the patient again, and tell the
patient that if they don’t inform the DVLA you may do so on their behalf. You do not have a duty to do
so, but you would have a defence if you breached their confidence and disclosed this to the DVLA.
Time frames for not driving: For group 1 licences (i.e.: ordinary car drivers, not those who drive lorries
or taxis etc)
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▪ TIA: No need to inform the DVLA, but shouldn’t drive for 4 weeks from the time of the TIA.
▪ Stroke: No need to inform the DVLA, shouldn’t drive for 4 weeks from the time of the stroke, if
any residual deficit at the end of this time they should discuss with the DVLA prior to re-starting
driving and will likely require a medical assessment to decide on this.
▪ Unprovoked first seizure: DVLA should be informed, shouldn’t drive for 6 months – during this
time investigations should be performed and depending on the results of these and the
estimated risk of recurrence, they may be able to drive again after 6 months, or have to wait
until they have been seizure free for 1 year.
▪ Acute coronary syndromes: Rules vary slightly depending on nature of MI, treatment given (e.g
medical, PCI, or CABG), residual LV function and plans for further interventions. In general, the
DVLA does not need to be notified and the patient shouldn’t drive for 1 week (unless they did
not undergo successful angioplasty, in which case it is 4 weeks).
The dangers of flying: Generally you need to advise patients with certain disorders to discuss it early
with their airline and insurance company; and if you need further advice you can clarify with the UK civil
aviation authority health unit.
▪ Deep venous thrombosis: General advice to reduce the risk includes keeping well hydrated (non-
alcoholic), keep mobile, avoid tight fitting clothing on the lower limbs and consider using
compression stockings. Some may need aspirin (e.g: polycythaemia) or LMWH (e.g: malignancy,
personal/family history of VTE, recent major surgery).
▪ Chronic obstructive pulmonary disease: If oxygen saturations are over 95% at rest and the
patient can go up a flight of stairs or walk 50m without becoming overly short of breath they
should tolerate a flight ok. If less than this they may need to consider further investigation by a
respiratory physician to see if supplemental in-flight oxygen is required. They will gauge this via
arterial blood gases and hypoxic challenges.
▪ Diabetes: If they are on insulin they will need a cool bag or cooled vacuum flask to carry the
insulin with them. It should not go into the hold as it can freeze. They should also carry
something sugary with them in case of a hypo, and look into adjusting their dose of insulin for a
long haul flight across time zones (East – take fewer units, West – take more units or additional
short acting insulin).
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Ploughing Through PACES

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Ploughing Through PACES

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Ploughing through PACES !

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2. Inspection of the patient: Cachexia, icterus or pallor, abdominal distention

4. Arms: Purpura, AV fistula.

5. Eyes: Icterus, conjunctival pallor, xanthelasma.

6. Face: Parotid enlargement.

7. Mouth: Telangiectasia, pigmentation, angular stomatitis, gum hypertrophy, macroglossia,

10. Inspection of the abdomen:

14. Legs: Peripheral oedema, rashes.

15. To finish off I would like to…

▪ Examine the hernieal orifices and external genitalia.

▪ Perform a digital rectal examination.

▪ Perform a urine dipstick.

▪ If transplant – check for glycosuria, hypertension and fever.

Chronic Liver Disease

1. What features of chronic liver disease are present?

▪ Features of reduced oestrogen breakdown – palmar erythema, spider naevi (5 or more),

▪ Features of reduced liver synthetic function – cachexia, leukonychia, bruising.

▪ Features of portal hypertension – caput medusae, splenomegaly.

4. What do I think the underlying cause is? See below.

1. Alcoholic liver disease: Dupytrens contracture, enlarged parotids.

2. Hepatitis B/C: Tattoos, track marks.

3. Hereditary haemochromatosis: finger prick marks from BM testing, arthropathy, bronze

5. Autoimmune hepatitis: Vitiligo, scar from previous thyroidectomy.

▪ Toxic: Alcohol, methotrexate, amiodarone, isoniazid.

▪ Metabolic: Non-alcoholic steatohepatitis (NASH).

▪ Infective: Hepatitis B and C.

▪ Autoimmune: Primary biliary cirrhosis, autoimmune hepatitis, primary sclerosing cholangitis,

▪ Hereditary: Hereditary haemochromatosis, alpha-1-anti-trypsin deficiency, Wilson’s disease,

▪ Bloods: FBC (anaemia, thrombocytopaenia, leukopenia), clotting (due to reduced production of

▪ Special tests: If cirrhotic a liver screen including – HBV/HCV, autoimmune

▪ Non-pharmacological: Dietician input, alcohol cessation, vaccinations (hepatitis,

▪ Medical: Colestyramine (pruritus), laxatives (avoid constipation), adcal D3 (risk of osteoporosis),

▪ Surgical/procedural: Serial therapeutic paracenteses, transjugular intrahepatic portosystemic

2. What is the commonest cause of SBP? Escherchia coli.

▪ Malignancy: Primary or secondary, solid organ or haematological.

▪ Heart failure, pancreatitis.

▪ Hypoalbuminaemia: Nephrotic syndrome, malnutrition.

▪ Bedside tests: Urine dipstick (haematuria may be seen in ADPCKD).

▪ Signs of decompensation: Encephalopathy, jaundice, ascites, purpura.

▪ Signs of portal hypertension: Caput medusae, splenomegaly, ascites.

The next step is to comment on complications of immunosuppression:

▪ General: Dysplastic skin lesions, warts, oral candida.

▪ Tacrolimus: Finger prick glucose marks, hypertension.

▪ Cyclosporin: Hypertension, gum hypertrophy, tremor, evidence of renal transplant.

The three commonest indications for liver transplant are:

▪ Aute liver failure (i.e.: hepatitis A/B or paracetamol OD)

▪ Bedside tests: Blood pressure (hypertension), finger prick glucose (diabetes

▪ Bloods: FBC (anaemia, signs of infection or immunsuppression), U&Es (deterioration in renal

▪ Non-pharmacological: Avoid live vaccines, alcohol cessation, smoking cessation, encourage

Polycystic Kidney Disease

▪ Their current method of renal replacement therapy is

▪ Haemodialysis via AV fistula: First asses it’s location (radio-cephalic, brachial-cephalic, or

▪ Peritoneal dialysis: Intrabdominal catheter, herniae, laparotomy scar related to previous

▪ Previous renal replacement therapy includes… (as above).

▪ Their current method of renal replacement is:

▪ Adequate: Euvolemic, no excoriation marks, no signs indicating active use of another

▪ Inadequate: Tachypnoea, raised JVP, peripheral oedema, asterixis, confusion,

▪ To complete my examination I would like to:

▪ Dipstick the urine and take a blood pressure.

▪ Examine the external genitalia and hernieal orifices.

▪ Bloods: Full haematological and biochemical profile being particularly interested in

▪ Imaging: Renal tract ultrasound scan ().

▪ Non-pharmacological: Education, signpost to appropriate support groups, referral for genetic