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Folate deficiency

Definition
Folate deficiency is dietary folate equivalents < 400 µg/day in adults and < 600 µg/day in pregnant women characterized by megaloblastic anemia, and risk of neural tube defects and congenital anomalies.
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Pathophysiology
Folate deficiency is mostly caused by inadequate folate intake, pregnancy and lactation, alcoholism, gene polymorphism (C1561T), and certain medications (methotrexate, anticonvulsants, sufasalazine, pyrimethamine).
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Epidemiology
The prevalence of folate deficiency anemia in the US adults is estimated at < 0.1%.
Disease course
Clinical manifestations include megaloblastic anemia and increased incidence of various cancers (colorectal, prostate, and breast cancer). Pregnancy-related complications include neural tube defects) spina bifida, anencephaly), and other congenital anomalies (congenital heart defects, oral cleft lip and palate) in neonates, maternal megaloblastic anemia, low infant birth weight, stillbirth, and premature delivery.
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Prognosis and risk of recurrence
Folate deficiency is associated with increased all-cause mortality with a hazard ratio of 1.33 (95% CI 1.01-1.76).
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Key sources
The following summarized guidelines for the evaluation and management of folate deficiency are prepared by our editorial team based on guidelines from the British Society for Haematology (BSH 2014).
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Guidelines

1.Screening and diagnosis

Indications for testing: test for folate deficiency in clinical situations similar to those in which testing for cobalamin deficiency is obtained.
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  • Diagnostic criteria

2.Diagnostic investigations

Serum folate and cobalamin: obtain cobalamin and folate assays concurrently, given the close relationship in their metabolism.
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  • CBC and peripheral blood smear

  • RBC folate

  • Serum homocysteine

  • Evaluation for medication-associated folate deficiency

3.Medical management

Folate supplementation
Treat folate deficiency according to the following schedules :
due to dietary insufficiency, pregnancy, or antiepileptics: folic acid 5 mg PO daily for 4 months
due to malabsorptive states: consider folic acid 15 mg PO daily for 4 months
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Continue folic acid supplementation until term in pregnant patients.

4.Specific circumstances

Patients with pernicious anemia: avoid initial treatment with oral cobalamin in pernicious anemia, but consider in maintenance or correction of suboptimal levels in asymptomatic patients.
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