Hereditary disease that is characterised by an alteration in the blood's ability to clot.
There is an impairment of the Von Willebrand factor, which is responsible for platelet adhesion inside injured blood vessels and as a binding protein for coagulation factor VIII. It is generally due to a genetic mutation, but this deficiency can also be acquired in the context of an autoimmune disease.
It manifests with nosebleeds (epistaxis), abundant menstrual bleeding or constant bleeding after surgical procedures.
The diagnosis is clinical and through blood testing. Clotting time, antigen and von Willebrand factor activity, and factor VIII activity are studied.
It is treated with desmopressin (DDAVP) which promotes the release of VW factor from the body's blood vessel stores.
- Sadler JE, Mannucci PM, Berntorp E, et al. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 2000; 84:160.
- Sadler JE, Budde U, Eikenboom JC, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 2006; 4:2103
- The Diagnosis, Evaluation and Management of von Willebrand Disease -- 2008 Clinical Practice Guidelines, National Heart, Lung and Blood Institute www.nhlbi.nih.gov/guidelines/vwd
- Nichols WL, Hultin MB, James AH, et al. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 2008; 14:171
- Margaret E Rick. Clinical presentation and diagnosis of von Willebrand disease. Up to Date.
