title: Quebec platelet disorder: features, pathogenesis and treatment.
abstract: Quebec platelet disorder (QPD) is a rare, autosomal-dominant, inherited bleeding disorder that is associated with unique abnormalities in fibrinolysis. Its hallmark features are delayed-onset bleeding following hemostatic challenges that responds to fibrinolytic inhibitor therapy and increased expression and storage of the fibrinolytic enzyme urokinase plasminogen activator in platelets, without increased plasma urokinase plasminogen activator or systemic fibrinolysis. The increased urokinase plasminogen activator in QPD platelets is only partially inhibited, and, as a result, there is intraplatelet generation of plasmin, and secondary degradation of many platelet alpha-granule proteins. During clot formation, the urokinase plasminogen activator released by QPD platelets leads to platelet-dependent increased fibrinolysis, and this is postulated to be a major contributor to QPD bleeding. The focus of the present review is to summarize the current state of knowledge on QPD, including the history of this disorder, its clinical and laboratory features, and recommended approaches for its diagnosis and treatment.
authors.affiliation: Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
authors.forename: Maria
authors.initials: M
authors.lastname: Diamandis
authors.forename: D Kika
authors.initials: DK
authors.lastname: Veljkovic
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Maurer-Spurej
authors.forename: Georges E
authors.initials: GE
authors.lastname: Rivard
authors.forename: Catherine P M
authors.initials: CP
authors.lastname: Hayward
mesh_terms: D001791:Blood Platelet Disorders / Q000235:genetics / Q000503:physiopathology*; D001792:Blood Platelets / Q000502:physiology*; D004438:Ecchymosis / Q000235:genetics / Q000503:physiopathology; D005165:Factor V / Q000235:genetics / Q000502:physiology; D005342:Fibrinolysis / Q000502:physiology*; D006801:Humans; D010974:Platelet Aggregation; D014568:Urokinase-Type Plasminogen Activator / Q000378:metabolism
chemical_list: D005165:Factor V; D014568:Urokinase-Type Plasminogen Activator