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Von Willebrand Disease (VWD)

VWD, the most common of the heritable bleeding disorders, results from qualitative or quantitative deficiencies of von Willebrand factor (VWF). VWF has essential roles in platelet-dependent primary haemostasis, and as a carrier for coagulation factor VIII in the blood circulation. Inheritance of VWD is autosomal. The molecular biology of VWD is complex.

There are three main types of VWD. Type 1 VWD is the most common form of the disorder, resulting from a partial quantitative deficiency of VWF. Type 2 VWD results from VWF qualitative deficiencies, including type 2A, 2B, 2M and 2N VWD variants. Type 3 VWD is a rare, recessive, often severe bleeding disorder, the result of essentially complete quantitative deficiency of VWF.

Genetic diagnosis has an important role in type 3 VWD in carrier diagnosis, where this may not be achievable by phenotypic means, and in PND in affected families (as above for haemophilia A and haemophilia B). Genetic diagnosis also has a role in selected cases of type 2 VWD. Generally speaking there is little application of genetic diagnosis in type 1 VWD.