Quebec platelet disorder

Pathology

• bleeding disorder due to a gain-of-function defect in fibrinolysis
• markedly increased platelet PLAU levels causes intraplatelet plasmin generation & secondary degradation of alpha-granule proteins

Genetics

• autosomal dominant
• associated with defects in PLAU (urokinase)

Clinical manifestations

• delayed onset bleeding after challenge, such as surgery
• no systemic fibrinolysis

Laboratory

• markedly increased platelet PLAU levels

More general terms

• platelet disorder; thromboasthenia
• enzyme deficiency
• genetic disease of the blood/bone marrow

Additional terms

• urokinase; urokinase-type plasminogen activator; U-plasminogen activator; uPA (PLAU)

Database

• OMIM: https://mirror.omim.org/entry/601709