A prothrombotic von Willebrand factor variant

摘要

In this issue of Blood, Schneppenheim et al report the first gain-of-function (GOF) variant located in the C4 domain of von Willebrand factor (VWF) associated with an increased risk of arterial thrombosis. 1 This study is accompanied by another study in this issue by Xu et al, who present the solution structure of this VWF C domain, providing important insights into the structure-function relationship of VWF. 2 The combined impact of these 2 reports is unique in that they address molecular aspects, structural analysis, functional consequences, and thrombosis risk of a GOF VWF mutation.