Von Willebrand Disease

Abstract

Von Willebrand disease (VWD) is the most common inherited bleeding disorder, caused by quantitative or qualitative defects of von Willebrand factor (VWF). This multimeric glycoprotein plays a central role in haemostasis by binding to extracellular matrix proteins such as collagen and to platelets via the glycoprotein Ib receptor. In addition, VWF acts as a carrier for factor VIII, preventing its premature clearance and degradation. Defective VWF function results in a bleeding tendency, predominantly manifesting as mucocutaneous haemorrhages (epistaxis, easy bruising, gum bleeding, and menorrhagia). The severity of symptoms varies not only between patients but also over time in the same individual, leading to a significant impact on quality of life. Diagnosis relies on the evaluation of bleeding history, family history, and specialized laboratory assays, yet it often remains challenging despite recent advances.