Quebec Platelet Disorder - Presentation

Presentation

Individuals with QPD are at risk for experiencing a number of bleeding symptoms, including joint bleeds, hematuria, and large brusing. In 2010, the genetic cause of QPD has been determined as a mutation involving an extra copy of the uPA (urokinase plasminogen activator) gene http://bloodjournal.hematologylibrary.org/content/115/6/1264.long. The mutation causes overproduction of an enzyme that accelerates blood clot breakdown.

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