title: The molecular biology of von Willebrand disease.
abstract: von Willebrand disease (VWD) is a common autosomally inherited bleeding disorder associated with mucosal or trauma-related bleeding in affected individuals. VWD results from either a quantitative or qualitative deficiency of von Willebrand factor (VWF)--a glycoprotein with essential roles in primary haemostasis and as a carrier of coagulation factor VIII (FVIII) in the circulation. In recent years the identification of mutations in the VWF gene in patients with VWD has improved our understanding of the structure and function of the VWF protein, and has illustrated the importance of specific regions of VWF for its interaction with other components of the vasculature. The underlying genetic lesions and associated molecular pathology have been identified in many cases of type 2A, type 2B, type 2M, type 2N and type 3 VWD. However in the most common variant, type 1 VWD, the causative molecular defect is unknown in the large majority of cases. In the absence of an understanding of the molecular pathology underlying type 1 VWD, precise diagnosis and classification of this common disorder remains problematic.
authors.affiliation: University Department of Haematology, Royal Infirmary, Manchester, UK. skeeney@labmed.cmht.nwest.nhs.uk
authors.forename: S
authors.initials: S
authors.lastname: Keeney
authors.forename: A M
authors.initials: AM
authors.lastname: Cumming
mesh_terms: D005192:Family Health; D006801:Humans; D010641:Phenotype; D014842:von Willebrand Diseases / Q000145:classification / Q000209:etiology / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics / Q000502:physiology
chemical_list: D014841:von Willebrand Factor