Review Question - QID 108786

This patient who is presenting with neurological abnormalities and hemolytic anemia with a history of celiac disease and recent diarrhea most likely has vitamin E deficiency.

Vitamin E deficiency is uncommon due to the abundance of tocopherols in the typical diet. Even patients consuming a vegetarian or vegan diet are not typically at risk for this condition. The typical patient with vitamin E deficiency has impaired absorption of fat-soluble vitamins (A, D, E, and K). Conditions that may cause this include pancreatic insufficiency, Crohn disease, celiac disease, cystic fibrosis, cirrhosis, cholestatic liver disease, and small bowel bacterial overgrowth. A genetic disorder that is associated with vitamin E deficiency is abetalipoproteinemia. This rare recessive genetic disorder is caused by a mutation in the microsomal transfer protein (MTP) gene. This loss-of-function mutation in MTP prevents the assembly of apoB in the liver and intestine, leading to the absence of circulating apoB-containing lipoproteins such as LDL and VLDL and impaired transport of fat-soluble vitamins. Patients present with hemolytic anemia, weakness, ataxia, and poor joint sensation. Treatment is with vitamin supplementation.

Dror and Allen studied vitamin E deficiency in developing countries. They found that children and the elderly are more vulnerable age groups and that men may be at higher risk for deficiency than women. They recommend public health initiatives to ensure vitamin repletion in deficient patients.

Incorrect Answers:
Answer 1: Iron deficiency would present with a microcytic anemia. The mean corpuscular volume is normal in this question and the increased lactate dehydrogenase suggests a diagnosis of hemolytic anemia. Iron deficiency anemia can be treated with iron supplementation.

Answer 2: Vitamin B9 or folate deficiency would cause a megaloblastic anemia; however, it does not explain the neurological abnormalities nor does it explain the lab values such as increased lactate dehydrogenase that suggest a hemolytic anemia. Treatment would be with folate supplementation.

Answer 3: Vitamin B12 deficiency is an extremely compelling answer choice in this patient. This patient has risk factors for B12 deficiency including vegan diet and terminal ileum dysfunction (Crohn disease). He also presents with anemia and symptoms suggestive of subacute combined degeneration (ataxia). Hemolytic anemia can present in both vitamin E and B12 deficiency. This patient's history of Celiac disease and non-bloody diarrhea point toward fat malabsorption and vitamin E deficiency as the diagnosis. Had the patient presented with the same neurological symptoms and a megaloblastic anemia in the absence of non-bloody diarrhea then the most likely diagnosis would have been vitamin B12 deficiency. Treatment would be with vitamin B12 supplementation.

Answer 4: Vitamin D deficiency will present with hypocalcemia. This patient's calcium level is on the lower side of normal and he does not have any symptoms of hypocalcemia (numbness, tingling, and spasms/tetany). Treatment would be with calcium and vitamin D supplementation.

Bullet Summary:
Vitamin E deficiency presents with neurological symptoms such as ataxia and decreased strength/reflexes as well as hemolytic anemia in the setting of fat malabsorption.