It is an inherited disease characterized by an alteration of the blood's ability to clot.
There is an alteration of the Von Willebrand factor, responsible for binding platelets to the interior of the blood vessel when it is injured, and binding protein for coagulation factor VIII. It is usually due to a genetic mutation, but the deficiency can also be acquired in the context of an autoimmune disease.
It manifests with nosebleeds (epistaxis), heavy menstrual bleeding or continuous bleeding after surgery.
Diagnosis is clinical and by blood analysis. Coagulation time, Von Willebrand factor antigen and 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.
