Quebec platelet disorder

Quebec platelet disorder is a rare autosomal dominant bleeding disorder first described in a family from the province of Quebec, Canada. Its hallmark is a large amount of the clot-dissolving enzyme urokinase-type plasminogen activator inside platelets, which speeds the breakdown of blood clots and so can cause bleeding, often delayed by twelve to twenty-four hours after an injury. Affected people may have joint bleeds, blood in the urine and large bruises. The genetic cause, an extra copy of the gene encoding the activator, was identified in 2010. Genetic testing is the only definitive way to diagnose it, and bleeding episodes are treated with antifibrinolytic medication, particularly tranexamic acid. The discovery was made by a team at McMaster University led by the hematologist Catherine Hayward.