Folate deficiency differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Folate deficiency must be differentiated from other diseases associated with the Macrocytic anemia such as Vitamin B12 deficiency, Alcoholic liver disease, Hypothyroidism, Myelodysplasia and Aplastic anemia.

Differential Diagnosis

• Folate deficiency must be differentiated from other diseases associated with the Macrocytic anemia such as Vitamin B12 deficiency, Alcoholic liver disease, Hypothyroidism, Myelodysplasia and Aplastic anemia

Differentiating Folate deficiency from other Diseases:

CONDITIONS	SIGNS/SYMPTOMS	INVESTIGATIONS
Vitamin B12 deficiency	Associated with neurologic and neuropsychiatric symptoms. e.g. decreased vibration sense, peripheral neuropathy, gait abnormalities.	Serum vitamin B12 levels are low. Both homocysteine and methylmalonic acid are elevated.
Alcoholic liver disease	Nutritional deficiencies and macrocytic anemia may be the presenting features. History reveals alcohol abuse.	Elevated liver enzymes e.g. ALT and AST Liver biopsy shows fatty liver or cirrhosis.
Hypothyroidism	Associated with constipation, weight gain, cold intolerance, hoarse voice, bradycardia, dry skin, delayed tendon reflexes.	Elevated TSH, low T4, and low T3. Serum folate level is normal. Homocysteine is often elevated
Myelodysplastic syndrome	Gradual-onset fatigue often present. Patients may have splenomegaly.	Macrocytic anemia may be associated with neutropenia and thrombocytopenia. Peripheral smear may suggestive of large, hypogranular platelets; hypogranulated, hyposegmented neutrophils with Dohle bodies; and circulating myeloblasts. Bone marrow findings include dyserythropoiesis; hypogranulated, hyposegmented granulocytic precursors; increased myeloblasts; and megakaryocytes showing fewer or disorganized nuclei. Ringed sideroblasts can also be seen Cytogenetic analysis and fluorescence in-situ hybridization can identify specific chromosomal abnormalities.
Aplastic anemia	Hx of recent viral illness, chemical exposure, or drug use. Bleeding and symptoms of infection are usually present. Ecchymosis and signs of infection may be present.	Macrocytic anemia, neutropenia, thrombocytopenia, and reticulocytopenia are present. Bone marrow aspirate and biopsy show decreased cellularity and paucity of all 3 lineage precursor cells.
Drug-induced macrocytosis	Hx of intake of certain drugs, such as DNA synthesis-inhibiting drugs, immunosuppressive drugs, anticonvulsants, and antiviral medications.	Serum folate level is normal.
Diphyllobothriasis	Associated with abdominal discomfort, diarrhea, vomiting, weakness, weight loss, and occasionally acute abdominal pain due to intestinal obstruction, cholangitis, or cholecystitis. Other features are megaloblastic anemia and neurologic abnormalities secondary to vitamin B12 (cobalamin) deficiency.	Identification of the operculated eggs in the stool Polymerase chain reaction (PCR) Megaloblastic anemia with low vitamin B12 level