title: Platelet-type Von Willebrand disease: three decades in the life of a rare bleeding disorder.
abstract: Almost thirty years has passed since the description of platelet-type von Willebrand disease. Named initially pseudo-von Willebrand disease, this mild mucocutaneous bleeding disorder has an intrinsic defect in platelets rather than VWF. Due to its unique features and its similarity to the more common type 2B VWD, many investigators were intrigued by its nature, pathophysiology and molecular genetics aspects. The challenges to diagnose this disorder have created debate in literature about the best method of discrimination from type 2B VWD. The recent development of the PT-VWD mouse model carries huge potential for further understanding of the disease as well as the platelet defect and its influence on other biological processes. This review provides a basic as well as updated knowledge about the PT-VWD including history, clinical and laboratory features and treatment in addition to the diagnostic challenges with a focus on molecular genetics aspects and PT-VWD research.
authors.affiliation: Department of Anatomy and Cell Biology, Queen's University, Boterell Hall room, Kingston, Ontario, Canada. Othman@queensu.ca
authors.forename: Maha
authors.initials: M
authors.lastname: Othman
mesh_terms: D000818:Animals; D001792:Blood Platelets / Q000378:metabolism; D016208:Databases, Factual; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D011485:Protein Binding; D011956:Receptors, Cell Surface / Q000235:genetics / Q000378:metabolism; D012042:Registries; D014842:von Willebrand Diseases / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D014841:von Willebrand Factor / Q000378:metabolism
chemical_list: D011956:Receptors, Cell Surface; D014841:von Willebrand Factor