When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Hemofilia

  • Descripción general
  • Teoría
  • Diagnóstico
  • Manejo
  • Seguimiento
  • Recursos
Última revisión: 16 Aug 2025
Última actualización: 15 Sep 2023

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • 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
Todos los datos

Otros factores de diagnóstico

  • 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
Todos los datos

Factores de riesgo

  • 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)
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • 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)
Todos los datos

Pruebas diagnósticas que deben considerarse

  • 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)
Todos los datos

Algoritmo de tratamiento

Inicial

sangramento com risco de vida/membro

Agudo

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

En curso

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

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

Divulgaciones

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

Divulgaciones

AL declares that she has no competing interests.

Agradecimientos

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.

Divulgaciones

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.

Revisores por pares

Louis Aledort, MD

The Mary Weinfeld Professor of Clinical Research in Hemophilia

Mount Sinai School of Medicine

New York

NY

Divulgaciones

LA declares that he has no competing interests.

Christoph Pechlaner, MD

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

Divulgaciones

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.

Referencias

Nuestros equipos internos de evidencia y editoriales colaboran con colaboradores expertos internacionales y revisores pares para garantizar que brindemos acceso a la información más clínicamente relevante posible.

Artículos principales

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  Resumen

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  Resumen

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

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  Resumen

Artículos de referencia

Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
  • Hemofilia images

  • Differentials

    • Doença de von Willebrand (DVW)
    • Disfunção plaquetária
    • Deficiência de outros fatores de coagulação (por exemplo, fator V, VII, X, XI ou fibrinogênio)
    More Differentials

  • Guidelines

    • 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
    More Guidelines

  • Patient information

    Hepatite C: o que é?

    Hepatite C: quais tratamentos funcionam?

    More Patient information
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer