Autosomal inheritance with variable penetrance and phenotypic expression.
Usually presents with mucocutaneous bleeding.
Menorrhagia and postnatal haemorrhage common in affected females.
Joint bleeding rare and seen only in patients with more severe disease.
Most patients have type 1 von Willebrand disease; more severe symptoms are seen in types 2 and 3.
Clinical bleeding scores may be helpful in identifying patients with disease.
Von Willebrand disease (VWD), the most common inherited bleeding disorder, is due to either a quantitative or qualitative abnormality of von Willebrand factor (VWF). VWF provides the critical link between platelets and exposed vascular subendothelium, and also binds and stabilises coagulation factor VIII.
History and exam
Mike Laffan, DM, FRCP, FRCPath
Professor of Haemostasis and Thrombosis
Imperial College Academic Health Sciences Centre
ML has received consultancy fees from Pfizer, Shire, Portola and Roche, speaker fees from Pfizer and Bayer, and travel support from Bayer and Shire. ML is an author of a number of references cited in this topic.
Prof Mike Laffan would like to gratefully acknowledge Dr Barbara A. Konkle, a previous contributor to this topic.
BAK declares that she has no competing interests.
Margaret Ragni, MD
Hemophilia Center of Western Pennsylvania
MR is an author of a reference cited in this topic.
David Keeling, BSc, MD, FRCP, FRCPath
Consultant Haematologist and Director
Oxford Haemophilia & Thrombosis Centre
DK declares that he has received payments from CSL Behring for giving a lecture and attending an advisory board. He is an author of a number of references cited in this topic.
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