Last reviewed: 30 Oct 2021
Last updated: 10 Sep 2021

Summary

Definition

History and exam

Other diagnostic factors

  • prolonged diarrhoea
  • loss of appetite and weight loss
  • fatigue
  • shortness of breath
  • dizziness
  • pallor
  • headache
  • tachycardia
  • tachypnoea
  • heart murmur
  • signs of heart failure
  • signs of chronic alcohol misuse
  • signs of haemolytic anaemia
  • signs of exfoliative dermatitis
  • painful swallowing
  • petechiae
  • glossitis
  • angular stomatitis
  • neurological deficits in children

Risk factors

  • low dietary folate intake
  • age >65 years
  • alcohol-use disorder
  • pregnant or lactating
  • prematurity
  • intestinal malabsorptive disorders
  • use of trimethoprim, methotrexate, sulfasalazine, pyrimethamine, or anticonvulsants (e.g., phenytoin, phenobarbital)
  • infantile intake of goats' milk
  • congenital defects in folate absorption and metabolism
  • states of increased cell turnover
  • intake of special diet
  • chronic dialysis

Diagnostic investigations

1st investigations to order

  • peripheral blood smear
  • FBC
  • reticulocyte count

Investigations to consider

  • serum folate
  • red blood cell folate
  • serum vitamin B12
  • serum LDH
  • serum unconjugated bilirubin
  • serum iron panel
  • plasma or serum methylmalonic acid
  • plasma homocysteine
  • bone marrow aspirate/biopsy

Treatment algorithm

Contributors

Authors

Mark Koury, MD

Professor of Medicine, Emeritus (Hematology/Oncology)

Vanderbilt University Medical Center

Nashville

TN

Disclosures

MK declares that he has no competing interests.

Allison P. Wheeler, MD

Assistant Professor of Pathology, Microbiology, and Immunology

Assistant Professor of Pediatrics (Pediatric Hematology-Oncology)

Vanderbilt University Medical Center

Nashville

TN

Disclosures

APW declares that she has no competing interests.

Mohammed Sika, PhD

Research Professor of Medicine (Nephrology)

Vanderbilt University Medical Center

Nashville

TN

Disclosures

MS declares that he has no competing interests.

Acknowledgements

Dr Mark Koury, Dr Allison Wheeler, and Dr Mohammed Sika would like to gratefully acknowledge Dr Lakshmi V. Srivaths and Donald Mahoney Jr., previous contributors to this topic.

Disclosures

LVS and DM declare that they have no competing interests.

Peer reviewers

Ralph Green, MD, PhD, FRCPath

Professor and Chair

Department of Pathology and Laboratory Medicine

University of California Davis School of Medicine

Sacramento

CA

Disclosures

RG is the author of reference(s) cited in this topic.

Jack Metz, MB, BCh, MD, DSc(Med), FRCPath, FCAP, FRCPA, FRS(SA), DSc Med(Hon Caus)

Emeritus Professor and Consultant Haematologist

Dorevitch Pathology

Heidelberg

Victoria

Australia

Disclosures

JM declares that he has no competing interests.

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