(QPD)

Prevalence: very rare. It is found in a cohort of patients from North America (especially Quebec) with a common French ancestor. Autosomal dominant transmission of a mutation (duplication) of the PAU gene (chr 10). Fibrinolysis disorder (hyperfibrinolysis) due to the presence of a higher-than-normal (100 times) concentration of µPA (urokinase plasminogen activator, a protease converting plasminogen into plasmin) in the α granules of the blood platelets. Blood and urinary levels of µPA are normal. This hyperfibrinolysis is corrected by a preventive administration of tranexamic acid.

Clinical signs:

-           personal or familial history of significant bleeding 12 to 48 hours after a minor or major procedure, or after a trauma

-        frequent hemarthroses in 43 % of cases

-        episodes of spontaneously resolving hematuria in 50 % of cases

-        no abnormal bleeding during or after normal childbirth (thromboembolic risk if prevention of fibrinolysis)

-        in some cases (thrombopenia): delayed scarring

Biology: sometimes mild thrombopenia (lower limit of normal), normal hemostasis tests including thromboelastography; lack of platelet aggregation in response to epinephrine.

Check for the PAU mutation.

Preventive treatment before surgery: tranexamic acid orally, 25 mg/kg three times a day. In severe forms, chronic treatment of tranexamic acid orally, 25 mg/kg twice a day

Anesthetic implications:

prevention of fibrinolysis, sometimes platelets transfusion.

Références:

-        Hayward CPM, Rivard GE.
Quebec platelet disorder.
Expert Rev Hematol 2011 ; 4 :137-41.

-        Lee D, Walega DR.
Management of Quebec platelet disorder for cervical facet injections  in the outpatient setting : a case report.
A&A Practice 2020 ; 14 : e11087

Update : May 2020