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Hemophilia

Last reviewed: 11 Jun 2025
Last updated: 15 Sep 2023

Summary

Definição

História e exame físico

Principais fatores diagnósticos

  • history of recurrent or severe bleeding
  • bleeding into muscles
  • prolonged bleeding following heel stick or circumcision
  • mucocutaneous bleeding
  • hemarthrosis
  • pseudotumor
  • intracranial bleeding
Detalhes completos

Outros fatores diagnósticos

  • excessive bruising/hematoma
  • fatigue
  • menorrhagia and bleeding following surgical procedures or childbirth (female carriers)
  • extensive cutaneous purpura (acquired hemophilia)
  • gastrointestinal bleeding and hematuria
  • distended and painful abdomen
  • pallor, tachycardia, tachypnea, or hypotension
Detalhes completos

Fatores de risco

  • family history of hemophilia (congenital hemophilia)
  • male sex (congenital hemophilia)
  • age >60 years (acquired hemophilia)
  • autoimmune disorders, inflammatory bowel disease, diabetes, hepatitis, pregnancy and postpartum period, malignancy, monoclonal gammopathies, use of certain drugs (acquired hemophilia)
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • activated partial thromboplastin time (aPTT)
  • plasma factor VIII and IX assay
  • mixing study
  • CBC
  • prothrombin time (PT)
  • plasma von Willebrand factor assay
  • plasma factor V, VII assay
  • plasma factor XI, XII assay
  • closure time/bleeding time and platelet aggregation studies
  • serum liver aminotransferases (aspartate aminotransferase [AST] and alanine aminotransferase [ALT])
  • plain x-rays of specific bony sites
  • prenatal factor VIII or IX mutation analysis by amniocentesis or chorionic villus sampling (CVS)
Detalhes completos

Investigações a serem consideradas

  • head or neck CT
  • head or neck MRI
  • abdominal ultrasound or abdominopelvic CT scan
  • esophagogastroduodenoscopy or colonoscopy
  • blood factor VIII or IX mutation analysis
  • plasma factor VIII or IX inhibitor screen
  • Bethesda assay/modified Bethesda assay (on plasma sample)
Detalhes completos

Algoritmo de tratamento

Inicial

life-threatening/limb-threatening bleed

AGUDA

congenital: nonlife-threatening bleed into joint or muscle

congenital: nonlife-threatening bleed into urinary tract

congenital: nonlife-threatening nasal or oral bleeding

acquired

CONTÍNUA

inhibitors to factor VIII or IX

no VIII/IX inhibitors: severe hemophilia

no VIII/IX inhibitors: mild-moderate hemophilia with recurrent bleeds into single joint

Colaboradores

Autores

Man-Chiu Poon, MD, FRCP (C), FACP

Professor Emeritus

Departments of Medicine, Pediatrics and Oncology

Cumming School of Medicine

University of Calgary

Calgary

Canada

Declarações

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

Declarações

AL declares that she has no competing interests.

Agradecimentos

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.

Declarações

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 hemophilia 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.

Revisores

Louis Aledort, MD

The Mary Weinfeld Professor of Clinical Research in Hemophilia

Mount Sinai School of Medicine

New York

NY

Declarações

LA declares that he has no competing interests.

Christoph Pechlaner, MD

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

Declarações

CP declares that he has no competing interests.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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].Texto completo

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].Texto completo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
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