Summary
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
Other diagnostic factors
- diarreia prolongada
- perda de apetite e perda de peso
- fadiga
- dispneia
- tontura
- palidez
- cefaleia
- taquicardia
- taquipneia
- sopro cardíaco
- sinais de insuficiência cardíaca
- sinais de abuso crônico de álcool
- sinais de anemia hemolítica
- sinais de dermatite esfoliativa
- deglutição dolorosa
- petéquias
- glossite
- estomatite angular
- deficits neurológicos em crianças
Risk factors
- baixa ingestão alimentar de folato
- idade >65 anos
- transtornos decorrentes do uso de bebidas alcoólicas
- gestantes ou lactantes
- prematuridade
- síndromes de má absorção intestinal
- uso de trimetoprima, metotrexato, sulfassalazina, pirimetamina ou anticonvulsivantes (por exemplo, fenitoína, fenobarbital)
- ingestão infantil de leite de cabra
- defeitos congênitos na absorção e no metabolismo do folato
- estados de renovação celular elevada
- ingestão de dietas especiais
- diálise crônica
Diagnostic tests
1st tests to order
- esfregaço de sangue periférico
- Hemograma completo
- contagem de reticulócitos
Tests to consider
- folato sérico
- folato eritrocitário
- vitamina B12 sérica
- lactato desidrogenase (LDH) sérico
- bilirrubina sérica não conjugada
- painel do ferro sérico
- ácido metilmalônico sérico ou plasmático
- homocisteína plasmática
- aspirado/biópsia de medula óssea
Treatment algorithm
com risco de deficiência de folato em decorrência de gravidez ou lactação
com risco de deficiência de folato por causa de distúrbios de má absorção, distúrbio hemolítico crônico ou diálise crônica
com risco de deficiência de folato devido ao medicamento
adquirida: macrocitose sem anemia
adquirida: anemia macrocítica e pancitopenia
defeitos congênitos no metabolismo do folato
má absorção congênita do folato
deficiência congênita de transporte de folato cerebral
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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Pfeiffer CM, Sternberg MR, Zhang M, et al. Folate status in the US population 20 y after the introduction of folic acid fortification. Am J Clin Nutr. 2019 Nov 1;110(5):1088-97.Full text Abstract
Wickramasinghe SN. Diagnosis of megaloblastic anaemias. Blood Rev. 2006 Nov;20(6):299-318. Abstract
Allen LH. Causes of vitamin B12 and folate deficiency. Food Nutr Bull. 2008 Jun;29(2 suppl):S20-34. Abstract
Whitehead VM. Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol. 2006 Jul;134(2):125-36.Full text Abstract
MRC Vitamin Study Research Group. Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet. 1991 Jul 20;338(8760):131-7. Abstract
Institute of Medicine. Dietary reference intakes for thiamine, riboflavin, niacin, vitamin B6, folate, vitamin B12, pantothenic acid, biotin, and choline. Washington, DC: National Academy Press; 1998.
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Отличия
- Deficiência de vitamina B12 (cobalamina)
- Anemia megaloblástica responsiva à tiamina
- Acidúria orótica hereditária
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