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
Key diagnostic factors
- presence of risk factors
- bleeding from minor wounds
- postoperative bleeding
- family history of bleeding
- easy and excessive bruising
Other diagnostic factors
- gastrointestinal bleeding
- blood transfusions
- central nervous system bleeding
- positive family history
- consanguineous relationships
- lymphoproliferative disorders
- aortic stenosis
- myeloproliferative disorders
1st investigations to order
- prothrombin time (PT)
- activated partial thromboplastin time (APTT)
- von Willebrand factor antigen
- von Willebrand factor function assay (ristocetin cofactor and collagen binding assays)
- factor VIII activity
Investigations to consider
- von Willebrand factor multimer analysis
- platelet aggregometry
- factor VIII - von Willebrand factor binding assay
- serum protein electrophoresis
- mutation analysis
- PFA-100 and other platelet function analysers
VWD type unknown with active severe haemorrhage
all types VWD with severe bleeding uncontrolled by desmopressin, antifibrinolytics, and von Willebrand factor-containing concentrates
all types VWD with severe bleeding or before high-risk bleeding procedures (including where sustained high levels of VWF required for several days): with or without mucosal involvement
all types VWD with minor bleeding or before procedures: involving mucous membranes
type 1, 2A, or 2M VWD: desmopressin responder with moderate mucosal or minor/moderate non-mucosal bleeding or before procedures not involving mucous membranes: non-pregnant
type 1, 2A, or 2M VWD: desmopressin non-responder with moderate mucosal or minor/moderate non-mucosal bleeding or before procedures not involving mucous membranes: non-pregnant
type 3, 2B, or 2N VWD: all bleeding or procedures except minor mucosal bleeding or before minor procedures involving mucosal surfaces: non-pregnant
all types VWD: pregnant
all types VWD with chronic or recurrent menorrhagia
all types VWD with significant chronic or recurrent bleeding or with treatment-refractory menorrhagia
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.
- Mild haemophilia A
- Inherited platelet function disorder
- Management of inherited bleeding disorders in pregnancy
- The diagnosis and management of von Willebrand disease
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