Summary
Definición
Anamnesis y examen
Principales factores de diagnóstico
- history of recurrent or severe bleeding
- bleeding into muscles
- prolonged bleeding following heel stick or circumcision
- mucocutaneous bleeding
- hemarthrosis
- pseudotumor
- intracranial bleeding
Otros factores de diagnóstico
- 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
Factores de riesgo
- 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)
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- 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)
Pruebas diagnósticas que deben considerarse
- 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)
Algoritmo de tratamiento
life-threatening/limb-threatening bleed
congenital: nonlife-threatening bleed into joint or muscle
congenital: nonlife-threatening bleed into urinary tract
congenital: nonlife-threatening nasal or oral bleeding
acquired
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
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 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 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.
Agradecimiento de los revisores por pares
Los temas de BMJ Best Practice se actualizan de forma continua de acuerdo con los desarrollos en la evidencia y en las guías. Los revisores por pares listados aquí han revisado el contenido al menos una vez durante la historia del tema.
Divulgaciones
Las afiliaciones y divulgaciones de los revisores por pares se refieren al momento de la revisión.
Referencias
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
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
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
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.
Diferenciales
- Von Willebrand disease (VWD)
- Platelet dysfunction
- Deficiency of other coagulation factors (e.g., factor V, VII, X XI, or fibrinogen)
Más DiferencialesGuías de práctica clínica
- 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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