Summary
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
- história de sangramento recorrente ou intenso
- sangramento nos músculos
- sangramento prolongado após picada no calcanhar ou circuncisão
- sangramento mucocutâneo
- hemartrose
- pseudotumor
- sangramento intracraniano
Other diagnostic factors
- contusões musculares/hematomas excessivos
- fadiga
- menorragia e sangramento após procedimentos cirúrgicos ou parto (mulheres portadoras)
- púrpura cutânea extensa (hemofilia adquirida)
- hemorragia digestiva e hematúria
- abdome distendido e doloroso
- palidez, taquicardia, taquipneia ou hipotensão
Risk factors
- história familiar de hemofilia (hemofilia congênita)
- sexo masculino (hemofilia congênita)
- >60 anos de idade (hemofilia adquirida)
- doenças autoimunes, doença inflamatória intestinal, diabetes, hepatite, gestação e período pós-parto, neoplasia maligna, gamopatia monoclonal e uso de determinados medicamentos (hemofilia adquirida)
Diagnostic tests
1st tests to order
- tempo de tromboplastina parcial ativada (TTPa)
- ensaio dos fatores VIII e IX do plasma
- estudo misto
- Hemograma completo
- tempo de protrombina (TP)
- ensaio do fator de von Willebrand do plasma
- ensaio dos fatores V e VII do plasma
- ensaio dos fatores XI e XII do plasma
- tempo de fechamento/tempo de sangramento e estudos de agregação plaquetária
- aminotransferases hepáticas séricas (aspartato aminotransferase [AST] e alanina aminotransferase [ALT])
- radiografias simples de locais ósseos específicos
- análise de mutação de fator VIII ou IX pré-natal por amniocentese ou biópsia de vilosidade coriônica (BVC)
Tests to consider
- tomografia computadorizada (TC) de crânio ou pescoço
- RNM de crânio ou pescoço
- ultrassonografia abdominal ou TC abdominopélvica
- endoscopia digestiva alta ou colonoscopia
- análise de mutação de fator VIII ou IX no sangue
- teste de rastreamento de inibidor de fator VIII ou IX do plasma
- ensaio de inibidor de Bethesda/ensaio de inibidor de Bethesda modificado (em amostra de plasma)
Treatment algorithm
sangramento com risco de vida/membro
congênito: sangramento em articulação ou músculo sem risco de vida
congênito: sangramento sem risco de vida no trato urinário
congênito: sangramento oral ou nasal sem risco de vida
adquirida
inibidores do fator VIII ou IX
sem inibidores VIII/IX: hemofilia grave
sem inibidores VIII/IX: hemofilia leve-moderada com sangramentos recorrentes em uma única articulação
Contributors
Authors
Man-Chiu Poon, MD, FRCP (C), FACP
Professor Emeritus
Departments of Medicine, Pediatrics and Oncology
Cumming School of Medicine
University of Calgary
Calgary
Canada
Disclosures
M-CP has been an ad hoc speaker for Bayer, Novo Nordisk, and Pfizer; attended advisory board meetings of Bioverativ/Sanofi, CSL Behring, KVR Pharmaceuticals, Novo Nordisk, Octapharma, Pfizer, Roche, and Takeda; received grant funding from Bayer and CSL Behring; and undertaken contract research for Novo Nordisk.
Adrienne Lee, MD, FRCP (C)
Clinical Assistant Professor
Department of Medicine
Cumming School of Medicine
University of Calgary
Calgary
Canada
Disclosures
AL declares that she has no competing interests.
Acknowledgements
Professor Poon and Dr Lee would like to gratefully acknowledge Dr Nigel S. Key, Dr Paul Giangrande, Dr Nidra I. Rodriguez, and Dr W. Keith Hoots, the previous contributors to this topic.
Disclosures
NSK has undertaken paid consultancy for Baxter Biosciences, Novo Nordisk, CSL Behring, and Bayer. He has received grant funding from Baxter. PG has undertaken paid consultancy and/or received lecture fees from the following companies involved in haemophilia care: Bayer, CSL Behring, NovoNordisk, Pfizer/ BPL, Octapharma, Biogen Idec, and Biotest. NSK, NIR, and WKH are authors of reference(s) cited in this topic.
Peer reviewers
Louis Aledort, MD
The Mary Weinfeld Professor of Clinical Research in Hemophilia
Mount Sinai School of Medicine
New York
NY
Disclosures
LA declares that he has no competing interests.
Christoph Pechlaner, MD
Associate Professor of Medicine
Innsbruck Medical University
Innsbruck
Austria
Disclosures
CP 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
Srivastava A, Santagostino E, Dougall A, et al. WFH guidelines for the management of hemophilia, 3rd edition. Haemophilia. 2020 Aug;26 Suppl 6:1-158.Full text Abstract
Collins PW, Chalmers E, Hart DP, et al. Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: 4th edition. Br J Haematol. 2013 Jan;160(2):153-70.Full text Abstract
National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). MASAC Document 280 - MASAC recommendations concerning products licensed for the treatment of hemophilia and selected disorders of the coagulation system. Aug 2023 [internet publication].Full text
National Hemophilia Foundation Medical and Scientific Advisory Council (MASAC). Guidelines for emergency department management of individuals with hemophilia and other bleeding disorders. Dec 2019 [internet publication].Full text
Tiede A, Collins P, Knoebl P, et al. International recommendations on the diagnosis and treatment of acquired hemophilia A. Haematologica. 2020 Jul;105(7):1791-801.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Doença de von Willebrand (DVW)
- Disfunção plaquetária
- Deficiência de outros fatores de coagulação (por exemplo, fator V, VII, X, XI ou fibrinogênio)
More DifferentialsGuidelines
- Recommendations regarding physical therapy management for the care of persons with bleeding disorders
- Recommendations concerning products licensed for the treatment of hemophilia and other bleeding disorders
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