Abstrait

New developments in the diagnosis and treatment of von Willebrand disease

Emmanuel J Favaloro

von Willebrand disease (VWD) arises from deficiencies and/or defects in the plasma protein VWF. VWD is reportedly the most common inherited bleeding disorder. The classification scheme for VWD identifies six types, with type 1 VWD defining quantitative deficiencies of VWF, type 3 defining an absence of plasma VWF, and types 2A, 2B, 2M and 2N defining qualitative defects of VWF. Diagnosis requires a clinical evaluation, with evidence of both familial and personal history of (primarily mucocutaneous) bleeding, as well as laboratory assessment using a wide panel of tests, including several activity-based assays. Management of VWD typically entails standard therapy, employing desmopressin wherever possible, factor concentrates in other situations, and antifibrinolytic and additional therapies as required. Some management strategies are modified according to geographic locality. There are several developments in both the diagnosis and management of VWD that may influence the future landscape.