Management of inherited von Willebrand disease

von Willebrand disease is a bleeding disorder caused by quantitative or qualitative defects of von Willebrand factor. The diagnosis is based on measurements of plasma and platelet von Willebrand factor, the ability of von Willebrand factor to interact with its platelet receptor and the analysis of the multimeric composition of von Willebrand factor. Owing to the heterogeneity of von Willebrand factor defects, a correct diagnosis of types and subtypes may be sometimes difficult but is very important for an appropriate therapy. The aim of treatment is to correct the dual defects of haemostasis, i. e. abnormal coagulation, expressed by a low level of factor VIII, and abnormal platelet adhesion, expressed by a prolonged bleeding time. Desmopressin is the treatment of choice in patients with type 1 von Willebrand disease, who account for approximately 70% of cases, because it corrects the factor VIII/von Willebrand factor level and the prolonged bleeding time in most of these patients. In type 3 and in the majority of type 2 von Willebrand disease patients, desmopressin is not effective and it is necessary to resort to plasma concentrates containing factor VIII and von Willebrand factor. Treated with virucidal methods, these concentrates are effective and currently safe, but they do not always correct the bleeding time defect. Platelet concentrates or desmopressin can be used as adjunctive treatments when a poor correction of the bleeding time after concentrates is associated with continued bleeding. Studies are in progress, first to better characterize patients with type 1 von Willebrand disease and to determine their response to desmopressin, and second, to evaluate the pharmacokinetios of factor VIII following factor VIII/von Willebrand factor concentrates and to establish the indication for concentrates.