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

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

Differentiating Macrocytic Anemia from Other Diseases

To review the differential diagnosis of anemia, click here.

Disease Genetics Clinical manifestation Lab findings
History Symptoms Signs Hemolysis Intrinsic/Extrinsic Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Iron studies Specific finding on blood smear
Serum iron Serum Tfr level Transferrin or TIBC Ferritin Transferrin saturation
Folate deficiency[3]
  • Impaired DNA synthesis
Anisochromic Macrocytic Nl Nl
Vitamin B12 deficiency[4] Anisochromic Macrocytic Nl Nl
Orotic aciduria[5]
  • Neurological manifestation
Anisochromic Macrocytic Nl Nl NA
Fanconi anemia[6]
  • Significant for bilateral short thumbs
Anisochromic Macrocytic Nl Nl
Disease Genetics History Symptoms Signs Hemolysis Intrinsic/Extrinsic Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Serum iron Serum Tfr level IBC Ferritin Transferrin saturation Specific finding on blood smear
Diamond-Blackfan anemia[7] Mutations in:
  • RPL5
  • RPL11
  • RPL35A
  • RPS7
  • RPS10
  • RPS17
  • RPS19
  • RPS24
  • RPS26
Anisochromic Macrocytic Nl Nl Nl NA
Liver disease[8]
  • Hepatitis
  • Binge drinking
  • Gall bladder disease
Anisochromic Macrocytic Nl Nl
Alcoholism[9] Anisochromic Macrocytic Nl Nl
Disease Genetics History Symptoms Signs Hemolysis Intrinsic/Extrinsic Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Serum iron Serum Tfr level IBC Ferritin Transferrin saturation Specific finding on blood smear

References

  1. Snow CF (1999). "Laboratory diagnosis of vitamin B12 and folate deficiency: a guide for the primary care physician". Arch Intern Med. 159 (12): 1289–98. PMID 10386505.
  2. Nagao, Takayo; Hirokawa, Makoto (2017). "Diagnosis and treatment of macrocytic anemias in adults". Journal of General and Family Medicine. 18 (5): 200–204. doi:10.1002/jgf2.31. ISSN 2189-7948.
  3. Koike H, Takahashi M, Ohyama K, Hashimoto R, Kawagashira Y, Iijima M, Katsuno M, Doi H, Tanaka F, Sobue G (March 2015). "Clinicopathologic features of folate-deficiency neuropathy". Neurology. 84 (10): 1026–33. doi:10.1212/WNL.0000000000001343. PMID 25663227.
  4. Hunt A, Harrington D, Robinson S (September 2014). "Vitamin B12 deficiency". BMJ. 349: g5226. PMID 25189324.
  5. Grohmann K, Lauffer H, Lauenstein P, Hoffmann GF, Seidlitz G (April 2015). "Hereditary orotic aciduria with epilepsy and without megaloblastic anemia". Neuropediatrics. 46 (2): 123–5. doi:10.1055/s-0035-1547341. PMID 25757096.
  6. Alter BP (2014). "Fanconi anemia and the development of leukemia". Best Pract Res Clin Haematol. 27 (3–4): 214–21. doi:10.1016/j.beha.2014.10.002. PMC 4254647. PMID 25455269.
  7. Vlachos A, Blanc L, Lipton JM (June 2014). "Diamond Blackfan anemia: a model for the translational approach to understanding human disease". Expert Rev Hematol. 7 (3): 359–72. doi:10.1586/17474086.2014.897923. PMID 24665981.
  8. Marks PW (July 2013). "Hematologic manifestations of liver disease". Semin. Hematol. 50 (3): 216–21. doi:10.1053/j.seminhematol.2013.06.003. PMID 23953338.
  9. Yokoyama A, Yokoyama T, Brooks PJ, Mizukami T, Matsui T, Kimura M, Matsushita S, Higuchi S, Maruyama K (May 2014). "Macrocytosis, macrocytic anemia, and genetic polymorphisms of alcohol dehydrogenase-1B and aldehyde dehydrogenase-2 in Japanese alcoholic men". Alcohol. Clin. Exp. Res. 38 (5): 1237–46. doi:10.1111/acer.12372. PMID 24588059.

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