Semin Thromb Hemost 2011; 37(6): 713-720
DOI: 10.1055/s-0031-1291382
© Thieme Medical Publishers

Quebec Platelet Disorder: Update on Pathogenesis, Diagnosis, and Treatment

Jessica Blavignac1 , Natalia Bunimov1 , Georges E. Rivard2 , Catherine P.M. Hayward1
  • 1Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario
  • 2Service d'hématologie-oncologie, CHU Sainte-Justine, Montréal, Québec, Canada
Further Information

Publication History

Publication Date:
18 November 2011 (online)

ABSTRACT

Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with reduced platelet counts and a unique gain-of-function defect in fibrinolysis due to increased expression and storage of urokinase plasminogen activator (uPA) by megakaryocytes. QPD increases risks for bleeding and its key clinical feature is delayed-onset bleeding, following surgery, dental procedures or trauma, which responds only to treatment with fibrinolytic inhibitors. The genetic cause of the disorder is a tandem duplication mutation of the uPA gene, PLAU, which upregulates uPA expression in megakaryocytes by an unknown mechanism. The increased platelet stores of uPA trigger plasmin-mediated degradation of QPD α-granule proteins. The gain-of-function defect in fibrinolysis is thought to be central to the pathogenesis of QPD bleeding as the activation of QPD platelets leads to release of uPA from α-granules and accelerated clot lysis. The purpose of this review is to summarize current knowledge on QPD pathogenesis and the recommended approaches to QPD diagnosis and treatment.

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Catherine P.M. Hayward, M.D. , Ph.D. , F.R.C.P. (C) 

Department of Pathology and Molecular Medicine, McMaster University

2N29A, 1280 Main Street West, Hamilton, ON L8S 4K1, Canada

Email: haywrdc@mcmaster.ca