Molecular and cellular biology of von Willebrand factor.

Von Willebrand factor (vWF), a central protein in the regulation of blood coagulation, serves as a major adhesive link between platelets and the blood vessel wall and also functions as a carrier in plasma for factor VIII. Abnormalities of vWF result in von Willebrand disease (vWD), a common inherited human bleeding disorder. Deficient von Willebrand factor function has been proposed as potentially protective against the development of coronary vascular disease and several recent investigational therapies are directed at the vWF-platelet interaction. This review summarizes the current state of knowledge regarding the biosynthesis and processing of vWF and the relationship of vWF structure to function. Finally, recent progress in identifying specific genetic mutations responsible for the many variants of vWD is discussed.