CASE STUDY FOR DIAGNOSIS OF DISEASE

Edited by: ferefen.d

A 24-year-old man with no past medical or surgical history
presents to the emergency department with abdominal pain and
fever of 101°F. Six hours ago, he felt nauseated and began to
notice a vague periumbilical pain that is now severe (10/10),
constant, and sharp, and has migrated to the right lower quadrant.
On physical examination, he is febrile and restless, and he is
tender in the right lower quadrant.
What is the most likely diagnosis?
Testicular torsion

Appendicitis

Ischemic colitis

Pancreatitis

Small bowel obstruction

This patient is presenting with classic symptoms of appendicitis, which
include anorexia, nausea, vomiting, fever, and right lower quadrant (RLQ)
pain. The pain of appendicitis classically starts in the periumbilical region and
then becomes localized to RLQ. Testicular torsion predominantly occurs in
neonates and postpubertal boys, although up to 40% of patients are older
than 21 years; the absence of testicular pain makes this diagnosis unlikely.
Ischemic colitis most commonly occurs in older patients with history of
smoking or atherosclerotic disease. The pain occurs after meals and lessens
after emesis. Pancreatitis causes abrupt onset of epigastric pain radiating to
the back; RLQ tenderness would be unusual. Approximately 50% of patients
with small bowel obstruction have had prior abdominal surgeries. The typical
pain of small bowel obstruction is crampy and periumbilical and occurs in
paroxysms every few minutes.
A 30-year-old alcoholic man with no past medical or surgical history is
brought in by ambulance to the ED with severe (7/10) epigastric
abdominal pain. The pain started 5 hours after the ingestion of a large
meal. It radiates to the back and is associated with nausea and
nonbloody, nonbilious emesis. He denies any problems or pain with
urinating. On physical examination, he is afebrile, tachycardic, and tender
without rebound in the epigastrium and left upper quadrant.
What is the most likely diagnosis?
Peptic ulcer disease

Cholecystitis

Appendicitis

Nephrolithiasis

Pancreatitis
After gallstones, alcohol is the second most common cause of
acute pancreatitis and is the most common cause in men. This
patient is presenting with many classic features of pancreatitis
including epigastric pain radiating to the back associated with
nausea and vomiting. Peptic ulcer disease is usually
characterized by chronic epigastric burning that occurs after
eating and is relieved with antacids. The pain is usually not
severe and is rarely associated with nausea and vomiting. Both
cholecystitis and appendicitis pains are also acute and severe
and can be associated with nausea and vomiting. However,
cholecystitis pain is usually localized to right upper quadrant
and may radiate to the right shoulder. Appendicitis pain initially
starts in the periumbilical region and then localizes to the right
lower quadrant. Nephrolithiasis patients may be asymptomatic
or have colicky flank pain that radiates to the groin and is often
associated with urinary symptoms including dysuria and
urgency
An otherwise healthy 36-year-old woman comes to your office because
of constipation for 2 years. Although she has a bowel movement every
day, she has to strain for several minutes to pass stool. She admits
with embarrassment that she occasionally has to insert her fingers in
her vagina and push posteriorly in order to evacuate the stool. Her
stools, when finally passed, are sometimes soft. She says over-the-
counter laxatives "just don't seem to do much." When she has tried
enemas in the past, they have "stayed inside" and have been difficult to
evacuate.
Which of the following questions would be most important to ask?
Obstetric history

Depression screen

Medication list

History of weight gain

The patient's history suggests a defecatory disorder, such as pelvic
floor dyssynergia, particularly because she reports sometimes
having to manually evacuate even soft stool. An obstetric history is
important to elicit because multiparity and rectovaginal trauma
during delivery can disrupt the normal function of the pelvic floor.
Specific questions to support the diagnosis of defecatory disorder
include: "Do you feel like your bowels are blocked? Do you have
difficulty letting go or relaxing your muscles to have a bowel
movement?" The possibility of sexual abuse should also be
explored. Depression-related constipation is unlikely to require
digital manipulation to assist evacuation. A medication history is
routine, but medications that cause constipation usually do so by
slowing colonic transit, resulting in hard stools
A 67-year-old man comes to your office for constipation. He says, "I
just don't get it, Doc. I've been as regular as a clock all my life, but for
the last few weeks, I've been getting more and more bound up." He
relates increasing abdominal pain, nausea, loss of appetite, and an 11-
lbs weight loss. He has noted some blood on the toilet tissue and in his
stools.
Which of the following is the most likely diagnosis?
Hypothyroidism

Depression

Colon cancer

Diverticulitis

Spinal cord process

Stricture
This patient has several alarm symptoms worrisome for colon cancer,
including advanced age. Other possibilities include diverticulitis,
stricture, hypothyroidism, depression, and less likely, a spinal cord
process. Focused history should include past history of abdominal
radiation leading to stricture; poor concentration, low mood, and
disturbed sleep suggesting depression; leg weakness and back pain
possibly indicating a spinal cord process; and fever, which is consistent
with both colon cancer and diverticulitis. Further evaluation is
absolutely essential.
A 41-year-old healthy woman sees you with a 10-month history
of abdominal pain, accompanied by an increase in stool
frequency and a more watery consistency of her stool. She
reports that her pain improves with defecation. She denies fever,
bleeding, or weight loss.
What is the most likely diagnosis?
Irritable bowel syndrome (IBS)
Ulcerative colitis (IBD)
Rotavirus infection
Escherichia coli infection
This patient meets the definition for irritable bowel syndrome (IBS). She
has greater than 6 months of symptoms, accompanied by a change in
stool frequency and form, and improvement with defecation. Ulcerative
colitis leads to chronic diarrhea and bleeding. Rotavirus infection
and Escherichia coli infection are acute diarrheal illnesses.
A 23-year-old healthy man develops nonbloody diarrhea several hours
after attending a picnic. He denies fever, bleeding, or abdominal pain.
What is the most likely cause of his symptoms?
Escherichia coli O157:H7
Salmonella
Staphylococcus aureus
Celiac sprue
The ingestion of preformed toxins causes acute nonbloody diarrhea less than 6
hours after exposure to Staphylococcus aureus or Bacillus cereus. S aureus is
classically associated with ingestion of mayonnaise (frequently in potato or egg
salad), custards, or poultry. Enterohemorrhagic E coli (O157:H7) usually causes
bloody diarrhea. Fever and often bloody diarrhea
accompany Salmonella infection. Neither enterohemorrhagic E
coli nor Salmonella would be expected to cause diarrhea so soon after
exposure. Irritable bowel syndrome is a cause of chronic, not acute, diarrhea.
A 25-year-old graduate student complains of a burning sensation in
her throat and upper abdomen. She drinks 3 to 4 cups of coffee per
day and often skips meals. Symptoms are often worse at bedtime.
Which of the following symptoms would be most consistent with a
diagnosis of gastroesophageal reflux?
Weight loss
Flatulence
Chronic cough
Vomiting
Gastroesophageal reflux is a common condition that is often precipitated by
ingestion of spicy foods or alcohol and classically causes a burning
sensation in the epigastrium and radiating into the chest. Symptoms are
worse upon lying down, and patients often complain of a bitter taste in their
mouth. Chronic cough is a common complaint due to reflux of gastric
contents. Nausea may occur, but vomiting is rare. Weight loss and flatulence
are not features of GERD.
A 55-year-old man presents to you complaining of epigastric pain and
early satiety. His symptoms have progressed over the past 6 months to
the point where he can eat very little and has lost 10 lbs. He complains of
severe constipation and occasional black stool.
Which of the following features is not an alarm symptom that should
prompt immediate endoscopy?
Age over 45
Weight loss
Constipation
Black stool
The patient has several concerning features in his presentation: male sex, age
over 45, weight loss, and blood in his stool. Other alarm features in the diagnosis
of dyspepsia include dysphagia, the presence of an iron deficiency anemia, and
persistent vomiting. These symptoms warrant immediate investigation with an
endoscopy to explore the possibility of malignancy versus peptic ulcer disease.
Constipation is not an alarm symptom that would prompt additional work-up.
Your next patient is a 30-year-old man with a chief complaint of
abdominal pain. The pain intensifies in the absence of food and generally
is relieved once he eats. He reports vomiting several times a week.
Which of the following features, if present, would suggest a diagnosis of
peptic ulcer disease?
Pain worsening upon lying down
Pain colicky in nature
Difficulty with swallowing
History of prolonged NSAID use
Peptic ulcer disease can cause significant morbidity, particularly if it is associated
with bleeding or perforation. Patients with gastric ulcers generally find their
symptoms worsened with food, whereas those with duodenal ulcers generally
exhibit decreased symptomatology after eating. NSAID use and Helicobacter
pylori infection are 2 of the most important risk factors for peptic ulcer disease.
Pain that is worse upon lying down is suggestive of reflux. Colicky pain is more
suggestive of biliary disease, and difficulty with swallowing or odynophagia is
typically associated with an esophageal stricture, irritation, ring, or mass.
You see a 22-year-old man with recent onset of solid food
dysphagia. His symptoms have gradually worsened, and he has
experienced several bouts of food impaction. He has a history of
asthma and allergic rhinitis and believes that he has multiple food
allergies as well.
What is the most likely cause of his dysphagia?
Achalasia

Eosinophilic esophagitis

Schatzki ring

Esophageal spasm
Eosinophilic esophagitis (or allergic esophagitis) is an increasingly
common disorder of the esophagus that is characterized by
eosinophilic infiltration of the esophagus due to allergic or idiopathic
causes. Children and young adults are most commonly affected,
although it can occur at any age. Patients most commonly report
dysphagia that is frequently complicated by food impaction. A history of
atopy (eg, rhinoconjunctivitis, asthma, dermatitis) is commonly present.
Strictures frequently occur and can be present throughout the
esophagus. Multiple mucosa rings are commonly present at
endoscopy, and biopsies typically reveal greater than 20 eosinophils
per high-power field.
Schatzki ring could be a cause of this patient's symptoms. However,
given his age, gender, recent onset, and history of atopy, the most
likely diagnosis is eosinophilic esophagitis. Achalasia and esophageal
spasm are unlikely to explain his symptoms. These motility disorders
rarely present with food impaction, and patients generally have
dysphagia to both solids and liquids
Your patient, a 42-year-old woman, has a history of progressive
dysphagia to solids and liquids for approximately 10 years.
Recently, she has begun to lose weight and now sleeps sitting
up to avoid regurgitating liquid. She notes chest fullness with
some pain.
What is the most likely diagnosis?
Achalasia

Peptic stricture

Esophageal cancer

Oropharyngeal dysphagia
Achalasia is a motor (motility) disorder of the esophagus in which there is
failure of the lower esophageal sphincter (LES) to relax along with
abnormal movement of the esophagus in response to swallowing. The
impairment of the LES to relax causes a functional obstruction of the
esophagus, which is relieved when the pressure of the contents of the
esophagus exceed the pressure of the sphincter or through occasional
intermittent spontaneous relaxations of the LES. Achalasia is rare; it affects
men and women equally. Dysphagia for both solids and liquids is the most
common symptom. Other symptoms include regurgitation of food, chronic
cough, chest pain, and weight loss.
Peptic stricture is less likely given the duration of symptoms, lack of typical
gastroesophageal reflux disease symptoms, and complaints of dysphagia
to both liquids and solids, which typically occurs in patients with an
esophageal motility disorder. Esophageal cancer is unlikely due to the
duration of symptoms and the presence of dysphagia to both liquids and
solids. This patient does not have symptoms suggestive of oropharyngeal
dysphagia.
A 56-year-old man with a history of significant alcohol abuse and alcoholic
cirrhosis comes to the emergency department complaining of maroon stool.
The patient is intoxicated and uncooperative during the history. He has a
heart rate of 118 and a blood pressure of 95/60 mm Hg. He suddenly starts
to vomit red blood.
Which of the following is the most likely diagnosis for the patient's
hematemesis and hematochezia?
Bleeding esophageal varices
Gastritis
Diverticular bleed
Ischemic colitis
This patient is known to have alcoholic cirrhosis and presents with maroon stool,
witnessed hematemesis, and evidence of hemodynamic instability (tachycardia and
hypotension). These suggest that his hematochezia is due to a brisk upper GI bleed.
Given his history of cirrhosis, variceal bleeding is the most likely etiology. Gastritis
often presents as iron deficiency anemia, coffee-ground emesis, or melena.
Diverticular bleeding and ischemic colitis cause hematochezia but not hematemesis
A 76-year-old man with history of diabetes and hypertension comes
to the emergency department for evaluation of bright red blood per
rectum. The patient reports 3 episodes of bright red blood per rectum
with clots. There is no stool mixed with the blood. He denies
dizziness, fatigue, shortness of breath, abdominal pain, nausea,
vomiting, or hematemesis. He had a normal colonoscopy 1 year ago
except for diverticulosis and internal hemorrhoids. Six months ago,
he had one prior episode of bright red blood per rectum that resolved
on its own and for which he did not seek medical care. On physical
examination, he is well appearing and in no acute distress. His blood
pressure is 120/70 mm Hg, and his heart rate is 80. His nasogastric
lavage is negative, with bilious fluid.
What is the most likely etiology of this patient's hematochezia?
Esophagitis

Gastric cancer

Hemorrhoids

Diverticulosis
The patient has a history of diverticulosis, with one prior episode of
self-limited GI bleeding. Bleeding occurs in less than 5% of
patients with diverticulosis. Most diverticular bleeds stop
spontaneously but may recur in 25% of cases. Esophagitis and
gastric cancer are unlikely to present with hematochezia.
Hemorrhoids present with trivial amounts of bright red blood per
rectum, such as blood on the toilet paper after wiping or drops of
blood in the toilet bowl after a bowel movement. Occasionally, red
blood is noted to cover the stool. Hemorrhoidal bleeding does not
cause frankly bloody bowel movements with clot.
A 22-year-old woman comes to clinic complaining of a 4-day history of
bloody diarrhea. The patient recently returned from a spring break
vacation in Mexico with her college roommates. She reports diffuse
abdominal discomfort but no nausea or vomiting. Three of her traveling
companions were also complaining of bloody diarrhea.
What is the most likely cause of her bloody stools?
Diverticular bleed
Gastric cancer
Radiation proctitis
Infectious colitis
Abdominal discomfort with lower GI bleeding indicates 1 of 3 main diagnoses:
infectious colitis, ischemic colitis, or inflammatory bowel disease. Ischemic
colitis is more likely to occur in elderly patients with underlying vascular
disease. Inflammatory bowel disease must be considered in young patients
with bloody diarrhea. However, in this case, the patient has a very acute onset
of symptoms, recent travel, and sick companions with similar symptoms, all
suggesting an infectious etiology. Diverticulosis or gastric cancer at this young
age would be rare. She has no risk factors for radiation colitis
A 45-year-old obese man was brought to your primary care clinic by a coworker who
found the patient confused in the office earlier that day. The patient acknowledged
feeling unwell for the past several days, with low-grade fevers and chills, nausea, and
right upper quadrant abdominal pain. He also reports a “yellow tinge” to his skin. He
has no other past medical history, takes no medications or herbal supplements, is not
sexually active, and denies alcohol or illicit drug use. On examination, he is found to
have a blood pressure of 90/50 mm Hg and a temperature of 101.7°F and is tender to
palpation in the right upper quadrant of his abdomen.
What is this patient's presentation most consistent with?
Ascending cholangitis

Acute viral hepatitis C

Nonalcoholic fatty liver disease

Hepatic congestion from right-sided heart failure

Chronic viral hepatitis B

This patient is presenting with the constellation of findings known as Reynolds pentad: jaundice,
abdominal pain, fever, hypotension, and mental status changes. These features strongly point to
ascending cholangitis. Acute viral hepatitis C is very uncommon, and this patient has no risk
factors for this infection. The acuity of illness argues against chronic viral hepatitis or nonalcoholic
fatty liver disease
A 55-year-old obese woman with diabetes mellitus and
hypertriglyceridemia visits you for routine follow-up. On examination, the
patient is afebrile and has normal vital signs but has scleral icterus. Her
skin is normal, and the abdomen is obese with mild hepatomegaly but no
tenderness.
Which of the following disorders do you suspect?
Acute cholecystitis
Carotenemia
Nonalcoholic fatty liver disease
HELLP syndrome
Acute viral hepatitis
Although the patient's gender, age, and weight place her at increased risk of
cholelithiasis, the absence of pain and abdominal tenderness renders acute
cholecystitis unlikely. Acute viral hepatitis typically presents with fevers, abdominal
pain, nausea, and vomiting, findings that are not present in this well-appearing
woman. At age 55, pregnancy is unlikely, thus excluding the HELLP syndrome.
Carotenemia spares the sclerae; a dietary history can effectively rule out this
diagno
Mrs. Jones, a 23-year-old G1P0 woman, sees you at 30 weeks of gestation
because of severe pain with defecation. Pain occurs with bowel movements,
and she has noted blood on the toilet paper.
Which of the following is the most helpful when distinguishing between an
anal fissure and a thrombosed external hemorrhoid?
The color of the blood
A tender lump
Pain that wakes the patient up at night
Constitutional symptoms
This patient is suffering from an anal fissure. The typical presentation includes severe
pain during and shortly after defecation, blood-streaked stool or blood on the toilet
paper, and secondary constipation. It is caused by a tear in the anal canal, most
commonly located in the posterior midline. However, anal fissures associated with
pregnancy are most often in the anterior midline. The split in the dermal lining occurs
distal to the dentate line where sensory nerve fibers run and is therefore very painful. A
thrombosed external hemorrhoid can also cause severe pain and bright red blood per
rectum; however, a distinguishing characteristic would be the presence of a tender,
swollen lump.
A 33-year-old overweight woman presents with recurrent nausea and
vomiting. For about 20 years, she has had a near continuous sense
of nausea with episodes of nonbloody vomiting. She has no
abdominal pain and cannot establish a pattern to the vomiting.
Treatment with antiemetics and proton pump inhibitors is not helpful.
She brings a large stack of outside medical records documenting
repeatedly normal endoscopic, pathologic, and radiologic
evaluations.
Which of the following is most likely to yield a diagnostic and
therapeutic benefit to this patient?
Referral for esophagogastroduodenoscopy
Helicobacter pylori antibody testing
Computed tomography scan of the abdomen and pelvis
Detailed psychosocial history with attention to possible trauma 20 years
ago
Upper gastrointestinal radiographic series
This patient's history meets criteria for chronic nausea and vomiting. The
normal and extensive prior testing has likely ruled out organic causes, so
we must focus on possible psychogenic causes for the symptoms. It is
particularly important to ask about an inciting event that may result in
posttraumatic stress disorder such as sexual abuse or being in combat.
Your patient, a 77-year-old gentleman with a smoking history of 100
pack-
years, presents with several months of dull rectal pain and
tenesmus. This has been associated with blood in the stool and
recently with significant constipation.
Which of the following additional symptoms is most concerning for
rectal cancer?
Sharp, stabbing pain with defecation

Vesicles in the perianal region

Weight loss
Recurrent respiratory infections
There are approximately 40,000 new cases of rectal cancer each
year in the United States. The incidence increases with age,
becoming more common after age 50. Certain inherited conditions
predispose patients to colorectal cancer, and thus obtaining a
thorough family history is important. In addition, a number of
environmental factors, such as cigarette smoking and alcohol
 consumption, may increase a person's risk of developing rectal
cancer. Patients with rectal cancer may develop blood in their stool,
signs of anemia, tenesmus, constipation, small-diameter stools, and
weight loss. Typically, if patients feel pain, it is poorly localized. The
red flags for rectal cancer are weight loss, fatigue, fever, and
anemia.

THE END !!!!!.