Summary
Definition
History and exam
Key diagnostic factors
- history of recurrent or severe bleeding
- bleeding into muscles
- prolonged bleeding following heel stick or circumcision
- mucocutaneous bleeding
- hemarthrosis
- intracranial bleeding
Other diagnostic factors
- excessive bruising/hematoma
- fatigue
- menorrhagia and bleeding following surgical procedures or childbirth (female carriers)
- extensive cutaneous purpura (acquired hemophilia)
- GI bleeding and hematuria
- distended and painful abdomen
- pallor, tachycardia, tachypnea, or hypotension
Risk factors
- family history of hemophilia (congenital hemophilia)
- male gender (congenital hemophilia)
- age >60 years (acquired hemophilia)
- autoimmune disorders, inflammatory bowel disease, diabetes, hepatitis, pregnancy, postpartum, or malignancy (acquired hemophilia)
Diagnostic investigations
1st investigations to order
- CBC
- activated partial thromboplastin time (aPTT)
- mixing study
- plasma factor VIII and IX assay
- 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 (AST, ALT)
- plain x-rays of specific bony sites
- prenatal factor VIII or IX mutation analysis by amniocentesis or chorionic villus sampling (CVS)
Investigations to consider
- head or neck CT
- head or neck MRI
- abdominal ultrasound or abdominopelvic CT scan
- esophagogastroduodenoscopy (EGD) or colonoscopy
- blood factor VIII or IX mutation analysis
- plasma factor VIII or IX inhibitor screen
- Bethesda assay (on plasma sample)
Treatment algorithm
Contributors
Authors VIEW ALL
Clinical Professor
Departments of Medicine, Pediatrics and Oncology
Cumming School of Medicine
University of Calgary
Calgary
Canada
Disclosures
M-CP is on advisory boards for Biogen-Idec, CSL-Behring, Novo Nordisk, Pfizer, Bayer, Baxalta, and Octapharma , he has been sponsored as a speaker by Pfizer, Bayer, and Novo Nordisk , and has done consulting work for Spark Therapeutic Inc. M-CP has received grant funding from CSL-Behring and Bayer, and has participated in sponsored research for CSL-Behring. M-CP is an unpaid volunteer for the World Federation of Hemophilia.
Clinical Assistant Professor
Department of Medicine
Cumming School of Medicine
University of Calgary
Calgary
Canada
Disclosures
AL has received fellowship training funding from the Bayer Hemophilia Award program. Her research project received peer-reviewed grant support from Canadian Hemophilia Society and Pfizer's Care Until Cure award. AK received investigator-initated research funding from Biogen. She has also served on an advisory board for Pfizer, and received travel funds from Baxalta.
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. 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 monograph.
Peer reviewers VIEW ALL
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.
Associate Professor of Medicine
Innsbruck Medical University
Innsbruck
Austria
Disclosures
CP declares that he has no competing interests.
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