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[Von Willebrand disease]. | LitMetric

[Von Willebrand disease].

Rev Med Interne

Laboratoire d'hématologie-immunologie-transfusion, hôpital Ambroise-Paré, AP-HP, 9, avenue Charles de Gaulle, 92104 Boulogne-Billancourt cedex, France; UFR des sciences de la santé Simone Veil, université de Versailles Saint-Quentin-en-Yvelines, 2, avenue de la Source de la Bièvre, 78180 Montigny-le-Bretonneux, France.

Published: December 2018

Von Willebrand factor is involved in primary hemostasis (adhesion of platelets to subendothelium and platelet aggregation) and acts as the carrier of coagulation factor VIII. Von Willebrand disease, resulting from a quantitative or qualitative defect of this factor, is the most frequent inherited bleeding disorder. It is mainly responsible for symptoms such as mucocutaneous bleeding and excessive bleeding after trauma or invasive procedures, but can also cause gastro-intestinal bleeding or hemarthrosis in the most severe forms of the disease. There are numerous causes of physiological variation of von Willebrand factor plasma levels which can be responsible for diagnostic difficulty or changes in symptoms over time. Diagnosis relies primarily on clinical symptoms but requires the use of several laboratory analyses: von Willebrand factor activity and antigen testing and factor VIII activity. More specialized assays allow classification of the disease in various types and subtypes which imply different management strategies (types 1, 2A, 2B, 2M, 2N, and 3). Treatment is based on desmopressin, responsible for an increase in plasma concentration of von Willebrand factor, and plasma-derived von Willebrand factor concentrates which can be combined with factor VIII.

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http://dx.doi.org/10.1016/j.revmed.2018.08.005DOI Listing

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