VWF

About VWF

VWF on chromosome 12p13.31 encodes von Willebrand factor, a large multimeric glycoprotein made by endothelial cells and megakaryocytes. It anchors platelets to damaged blood vessel walls, particularly under the high shear forces in small arteries, and carries and stabilizes factor VIII in the circulation. Variants in VWF cause von Willebrand disease, the most common inherited bleeding disorder, which typically leads to easy bruising, nosebleeds, bleeding from the gums, and heavy menstrual bleeding. Type 1 is a partial quantitative deficiency and the most common form, type 2 involves functionally abnormal protein with several subtypes, and type 3 is a severe near complete absence of the protein. The disorder was first described by the Finnish physician Erik von Willebrand in 1926 in a family from the Aland Islands.