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
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
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)
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)
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)
Algoritmo de tratamento
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
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
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.
鉴别诊断
- Von Willebrand disease (VWD)
- Platelet dysfunction
- Deficiency of other coagulation factors (e.g., factor V, VII, X XI, or fibrinogen)
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- 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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