Disease Vitamin/Nutrient Problem?

Buzzwords Findings

A Excess HA (headache)
young female with acne joint pain
nausea
dryness of oral mucosa
papilledema
bony hyperostosis

teratogenic

A Deficiency keratomalacia vision loss

corneal scarring poor night vision

Beri-beri B1 Deficiency alcohol Wet:

(wet or dry) Thiamine high output CHF from peripheral
vasodilation

Dry:
mainly neuropathy

Infantile:
cardiac failure
silent cry

Wernicke’s B1 Deficiency alcoholic confusion

encephalopathy Thiamine nystagmus loss of muscle coordination (ataxia
ataxia leg tremor
vision changes - abnormal eye movements,
double vision

Korsakoff psychosis B1 Deficiency alcoholic inability to form new memories

(technically a Thiamine making up stories loss of memory (can be severe)
manifestation of
confabulation
Wernicke’s)
hallucinations

Ariboflavinosis B2 Deficiency anorexic cheilosis

Riboflavin young girl, dancer/gymnast glossitis
normocytic, normochromic anemia

Pellagra B3 Deficiency rice-based diet 3D’s

Niacin Asian diarrhea, dementia, dermatitis

B6 Deficiency TB paresthesias of hands and feet

Pyridoxine pneumonia sideroblastic anemia
seborrheic dermatitis like eruption
glossitis
cheilitis
somnolence
confusion

B12 Deficiency vegan paresthesias

Cobalamin alcoholic low hemoglobin
hypersegmentation of neutrophils
macrocytic, megaloblastic anemia
position and vibration disturbances

Scurvy C Deficiency bowed tibia w/normal bone density defective osteoid matrix formation
Ascorbic acid perifollicular hemorrhages bleeding gums
elderly person who is nursing home defective wound healing
bound anemia
fed by g-tube

Rickets D Deficiency bone pain or tenderness

Osteomalacia dental deformities (delayed formation of
teeth, defects in structure of teeth, holes in
enamel)
increased bone fractures
short stature
skeletal deformities (pigeon chest, scoliosis,
odd-shaped skull)
fraying of metaphyses
poor calcification of epiphysis
decreased bone density
bowlegs

E Deficiency person with liver or biliary tract issues RARE

ataxia w/impaired proprioception
diminished to absent deep tendon reflexes
 diminished sensation to pain and vibration
sense bilaterally in the extremities

K Deficiency alcoholic with bruises clotting issues

bulimic bleeding, ecchymoses with trivial trauma
cystic fibrosis

Hemorrhagic K Deficiency home birth seizures

disease of the bruising
newborn bleeding
(neonatal endogenous production of vit K is
limited d/t minimal establishment of intestinal
bacterial flora that produce this nutrient)

If deficiency in Folate Deficiency pregnant woman not eating leafy greens, fetus/newborn:
pregnant woman: (B9) no prenatal vitamins neural tube defects
Anencephaly
Spina bifida others:
(any neural tube loss of appetite
defect) weakness
macrocytic, megaloblastic anemia
sore tongue

Kwashiorkor Protein Deficiency enlarged abdomen desquamating skin

(fair-to-normal calorie presence of edema depigmentation and hyperpigmentation
intake) fair-to-normal calorie intake low body weight
edema
ascites

Marasmus Protein Deficiency absence of edema - looks EMACIATED low weight

(low calorie intake) inadequate calorie intake small size
listless

Q1
A 4 year old child was born at term with no congenital anomalies. She is now only 70% of normal body weight. On examination she shows
dependent edema of the lower extremities as well as an enlarged abdomen with palpable fluid wave. Her desquamating skin shows irregular
areas of depigmentation and hyperpigmentation. Which of the following nutritional problems is most likely present in this child?
Kwashiorkor

Q2
A 32 year old man has a history of multiple and recurrent pneumonias since childhood. He also has noted foamy, foul smelling loose stool
diarrhea for the past 10 years. Lab studies show an abnormal sweat chloride test. A deficiency state involving which of the following nutrients
is most likely to develop in this patient?
Vitamin D
(patient has cystic fibrosis and therefore likely has an issue absorbing the fat soluble vitamins d/t pancreatic insufficiency and decreased lipase for
fat digestion)

Water v. Fat soluble vitamins

- absorption route (blood v lymph)
- storage
- excretion
- toxicity (possible v likely)
- dosing requirements (frequent v periodic)

Fat soluble vitamins are ADEK

Fat soluble vitamins more likely to cause toxicity

Q3
A 45 year old woman recently immigrated from Asia has developed red, roughened skin in sun-exposed areas over the past 2 years. She also
complains of chronic, watery stools. On PE she appears forgetful and exhibits memory loss. She has no significant PMH or meds. These
findings are most consistent with which of the following vitamin deficiencies?
Niacin

Q4
A 5 year old child has complained of pain in his legs for the past year. On PE, there is bending deformity of lower extremities. Plain film
radiographs of his lower legs show that bone mineral density appears normal, there are widened epiphyses and bowing of tibiae, consistent
with failure of osteoid matrix formation.
Vitamin C deficiency
(we’re talking about hydroxylation of proline and lysine in collagen synthesis here - not bone formation)

Q5
A clinical study of diet in pregnancy is conducted. It is observed that pregnant women who do not get a diet that includes green, leafy
vegetables develop a specific nutritional deficiency that affects their developing fetuses. Which of the following abnormalities was most likely
to be found with increased frequency in these fetuses?
Anencephaly
(folic acid deficiency → neural tube defects)

folic acid
- one carbon transfers, DNA synthesis
- megaloblastic (large cells) anemia
- associated with drugs (anti-cancer) and chronic alcoholism
- methotrexate
- megaloblastic changes in rapid turnover areas (mucosa- diarrhea)

Q6
A 41 year old man has had increasing dyspnea for the past year. On PE, diffuse crackles at lung bases. CXR shows pulmonary edema and
cardiomegaly. Echo shows slightly low ejection fraction. Labs show normal hemoglobin, normal cell size, normal WBC. A deficiency in which
of the following vitamins is most likely to produce these findings?
Thiamine

Why is alcohol related to thiamine deficiency?

- empty calories
- displaces food
- decreases absorption
- enhances excretion

Unconscious alcoholic → 100mg thiamine followed by glucose

Q7
A 49 year old man has a 20 year history of chronic alcohol abuse. He has had worsening problems with ambulation for the past year. On PE his
gait is ataxic. MRI shows diminished size of the mamillary bodies. You would likely need to correct and replace which of the following?
Thiamine

Q8
A 42 year old man with a 19-year hx chronic alcohol abuse has noted during the past year that he has bruising with minimal trauma. On PE,
abdominal enlargement with a fluid wave, pitting edema to the knees. Labs show he has a high PT, normal hemoglobin, high MCV, normal
platelets and normal WBC. Which of the following nutrients is most likely to be of benefit for the bleeding tendency in this case?
Vitamin K

Bleeding, ecchymoses with trivial trauma

- coumadin (warfarin) use
- cystic fibrosis
- liver disease

Key point: Alcoholism and vitamins

- Vitamin K (liver)
- Vitamin B1 (thiamine)
- Folate

Q9
A 36 year old women regularly goes to health food store to buy supplements to help her live longer. She presents with increasing
headaches, joint pain, nausea, vomiting and weight loss, dry oral mucosa, mild papilledema on fundus examination. Radiograph of her hands
shows bony hyperostosis. You suspect?
Vitamin A excess

Q10
A 3 year old child develops gradual loss of vision over the past 2 years. On PE, bilateral keratomalacia and corneal scarring. Inadequate
dietary intake of?
Vitamin A deficiency

Q11
A 11 month old infant is 50% ideal body weight. The baby is proportionally quite small in size. Upon PE, the baby is listless and does not
respond with vocalization when touched. A small purplish contusion is noted over the RLE. Most likely diagnosis?
Marasmus

Q12
A 23 year old man has a positive tuberculin skin test and a CXR shows upper lobe densities. He is started on antitubercular therapy with
isoniazid, rifampin, and ethambutol., 4 months later develops paresthesias of his hands and feet. What did you fail to give him?
anyone on isoniazid should also be on vit B6 (pyridoxine)

Q13
A 21 year old G3P2 woman gives birth a few weeks before term at home. The newborn initially doing well but at 3 days of life begins to bleed
from umbilical cord stump, and ecchymoses are observed over the buttocks and heels. This is followed by seizure activity. Deficiency?
Vitamin K

Vitamin K is needed by the liver for synthesis of clotting factors 2, 7, 9 and 10.

Q14
A 56 year old vegan man has paresthesias of the lower extremities, worsening over the past 3 years. A CBC shows: low hemoglobin, high
MCV, normal platelets and WBC. Peripheral blood smear shows macro-ovalocytosis of the RBCs and hypersegmentation of neutrophils.
Deficiency?
Vitamin B12

Vitamin B12 deficiency

- issue of absorption not usually of intake
- needs HCl to release from dietary proteins (achlorhydria)
- needs intrinsic factor binding for recognition in terminal ileum (atrophic gastritis)
- if atrophic gastritis + no intrinsic factor + low hemoglobin = pernicious anemia
- extensive entero=hepatic circulation so many years before sxs in vegans

Vitamin B12 and Folate anemia

- megaloblastic anemia
- neurologic dysfunction
- folate and B12 combined deficiency is key to differentiate
Q15
A 2yo African American male has lactose intolerance and has been mainly breastfed until 1 yo. He is a picky eater and now presents with
deformity of legs and generalized weakness. X-ray shows fraying of metaphyses, poor calcification of epiphysis, decreased bone density.
Suspect?
Vitamin D deficiency

Q16
A 15 yo girl has been under physician’s care after dx of anorexia nervosa, BMI is now 18. She is a vegan. On PE, cheilosis and glossitis. Serum
glucose is 66 mg/dL. Hemoglobin and cell size normal, WBC and platelet count normal. Suspect?
Riboflavin deficiency

Q17
A 54 year old man, wants to halt aging. Finds recommendations for a vit that has anti-aging properties. Some of these sites also indicate that a
deficiency of this particular vitamin may lead to neurological problems similar to cobalamin deficiency. Persons with liver and biliary tract
disease are also more likely to be deficient in this nutrient. Which vitamin most likely to have these properties?
Vitamin E

Vitamin E
- touted as having anti-oxidant effects
- rare deficiency state can lead to a mild neurological dysfunction
- ataxia w/impaired proprioception
- diminished to absent deep tendon reflexes
- diminished sensation to pain and vibration sense bilaterally in the extremities

Q18
You eat fried polar bear liver, next morning HA, nausea, vomiting, irritable and confused, peeling of skin off hands
Vitamin A toxicity

Folate Deficiency
Megaloblastic Anemia Symptoms Key Points/Epidemiology

nuclear-cytoplasmic asynchrony: deficiency
impairs DNA synthesis (cannot make TTP);
nucleus matures slower d/t delay in cell cycle;
cytoplasm matures normally because RNA is not
affected (has UTP)
weakness, pallor, jaundice, glossitis; neural tube most common cause of megaloblastic anemia
defects in fetus
dietary folate absorbed in the jejunum
deficiency can develop in ~ 3 months

ineffective hematopoiesis: affects all cell lines -

excessive apoptosis of blood cell precursors in bone
marrow → peripheral pancytopenia

Etiology Diagnosis Treatment

macrocytic RBCs
Inadequate intake (alcoholics, elderly, poor) hypersegmented vitamin B12 deficiency can cause irreversible
Increased requirement (pregnancy, lactation, infancy, neutrophils neurologic damage
rapid cell proliferation in erythroid hyperplasia, cancers, decr. serum folate
leukemia)
incr. serum folate therapy can mask a vitamin B12 deficiency
Impaired absorption (celiac disease, inflammatory bowel
homocysteine,
disease)
normal serum THEREFORE both vitamin B12 and folate therapy
Excess loss (renal dialysis)
methylmalonic should be given if vitamin B12 deficiency has not
Antifolate drugs (methotrexate, trimethoprim,
phenytoin, others) acid* been definitely ruled out

*important negative finding - tells us this is not B12 deficiency

Vit. B12 (cobalamin) Deficiency

 Megaloblastic Anemia
nuclear-cytoplasmic asynchrony
ineffective hematopoiesis
Etiology
Inadequate intake (vegans)
Increased requirement (pregnancy, infancy, growth)
Impaired absorption (cobalamin malabsorption,
Crohn’s, celiac)
Decreased gastric acidity (elderly, prolonged use of
H2 blockers, proton pump inhibitors, atrophic gastritis)
Competition for vitamin B12 (fish tapeworm,
Diphyllobothrium latum)
Lack of intrinsic factor (loss of parietal cells due to
gastrectomy, gastric bypass, gastric atrophy, H. pylori
infection, pernicious anemia)
vitamin K deficiency
symptoms/physical exam
mucosal and skin bleeding
Symptoms
weakness, pallor, jaundice, glossitis, gastritis,
neuropsychiatric disorders and
demyelinating neuropathies
subacute combined degeneration of the spinal cord -
methylmalonic acid cannot be converted to succinyl
CoA; methylmalonic acid builds up w/in the myelin
→ degeneration → poor proprioception and vibratory
sensation; spastic paresis
Diagnosis
macrocytic RBCs
hypersegmented
neutrophils
decreased serum vitamin B12, increased
serum homocysteine and increased serum
methylmalonic acid
Pathogenesis
disrupts function of multiple coagulation factors
activated Vit K gamma carboxylates factors II, VII,
IX, X and proteins C and S - NECESSARY FOR
FACTOR FUNCTION
diagnosis
↑PT
normal PTT
Key Points/Epidemiology
deficiency takes 3-4 years
needed for proper myelination of spinal cord and nerves
pancreatic proteases in the duodenum detach vitamin B12
from R-binder
binds intrinsic factor (made by gastric parietal cells) in the
small intestine; IF-VitB12 complex is absorbed in the ileum
Treatment
vitamin B12 deficiency can cause irreversible
neurologic damage
folate therapy can mask a vitamin B12 deficiency
THEREFORE both vitamin B12 and folate therapy
should be given if vitamin B12 deficiency has not been
definitely ruled out
Key Facts
Vit K is activated by epoxide reductase in liver
COUMADIN BLOCKS EPOXIDE REDUCTASE
(lack of GI colonization by bacteria that
normally synthesize vitamin K)
long-term antibiotic therapy also a risk factor
treatment
prophylactic Vitamin K injection to all newborns
at birth