Last reviewed: November 2017
Last updated: April  2017

Summary

Definition

History and exam

Key diagnostic factors

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

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)
Full details

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)
Full details

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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