Pathogenesis and classification of von Willebrand disease.
Von Willebrand disease, the most common congenital bleeding disorder in humans, is the consequence of quantitative and/or qualitative defects of von Willebrand factor, a protein necessary for platelet adhesion and thrombus formation at sites of vascular injury. Distinct molecular defects of von Willebrand factor are responsible for the heterogeneity of von Willebrand disease subtypes. A classification in four main groups, each characterized by distinctive pathogenetic features, represents the basis for a correct therapeutic approach to bleeding episodes in these patients.
Ruggeri
Z M
ZM
Roon Research Center for Arteriosclerosis and Thrombosis, Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, Calif 92037.
D006801:Humans; D010980:Platelet Membrane Glycoproteins / Q000378:metabolism; D013329:Structure-Activity Relationship; D014842:von Willebrand Diseases / Q000145:classification / Q000209:etiology*; D014841:von Willebrand Factor / Q000737:chemistry / Q000378:metabolism*
D010980:Platelet Membrane Glycoproteins; D014841:von Willebrand Factor