- Classically presents as megaloblastic anaemia, with absence of neurological signs.
- Common causes include dietary deficiency, malabsorption, drugs and toxins, and states of increased demand. Hereditary folate malabsorption and other inborn errors of folate metabolism are rare causes.
- In early disease, haemoglobin and MCV are normal. In severe disease, patients present with symptomatic anaemia and pancytopenia.
- Known association with fetal neural tube defects. Probable link to atherosclerosis and venous thrombosis, dementia, and colon cancer.
- Diagnosis is confirmed by the presence of low serum folate. Low RBC folate and elevated plasma homocysteine levels are helpful in situations of diagnostic difficulty.
- Cobalamin deficiency must be ruled out before initiating folic acid therapy, as the therapy may aggravate neurological manifestations of underlying vitamin B12 deficiency.
- Oral folic acid is usually considered sufficient therapy. Underlying cause should be identified and treated.
- Food fortification programmes have been instituted in some countries to decrease the incidence of folate deficiency and its disease associations.
Other related conditions
- Assessment of anaemia
- Alcoholic liver disease
- Alcohol abuse
- Overview of chronic alcoholism
- Premature newborn care
- Haemolytic anaemia
- Tropical sprue
- Coeliac disease
- Ulcerative colitis
- Crohn's disease
- Whipple's disease
- Systemic sclerosis (scleroderma)
- Myelodysplastic syndrome
- Aplastic anaemia
- Primary hypothyroidism
Last updated: Jan 24, 2013