Quebec platelet disorder

A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradat

A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.

Signs and symptoms

• Menorrhagia
• Bruising susceptibility
• Joint hemorrhage
• Impaired epinephrine-induced platelet aggregation
• Epistaxis
• Thrombocytopenia

Also known as: BDPLT5; factor V Quebec; platelet-type bleeding disorder 5