Quebec platelet disorder
| Quebec platelet disorder | |
|---|---|
| Other names | Factor V Quebec |
 | |
| Autosomal dominant is the manner of inheritance of this condition | |
Quebec platelet disorder (QPD) is a rare autosomal dominant bleeding disorder first described in a family from the province of Quebec in Canada.blood clot breakdown) which can result in bleeding.[2]
Presentation
Individuals with QPD are at risk for experiencing a number of bleeding symptoms, including joint bleeds, hematuria, and large bruising.[4]
Pathophysiology
The disorder is characterized by large amounts of uPA in
MMRN1). Furthermore, upon QPD platelet activation, uPA can be released into forming clots and accelerate clot lysis, resulting in delayed-onset bleeding (12-24hrs after injury).[6]
In 2010, the genetic cause of QPD was determined as a
blood clot breakdown.[2]
Diagnosis
Southern blotting for the genetic sequence, or assays for platelet uPA levels or platelet granules.[8]
Treatment
Bleeding episodes are treated using antifibrinolytic medication, particularly tranexamic acid, to prevent fibrinolysis.[8]
History
The discovery was made by a team of doctors at
hematologist.[9]