Quebec platelet disorder.
A case of Quebec platelet disorder is hereby reported. A 33 years old woman presented with history of epistaxis and gum bleeding since childhood and menorrhagia and bleeding per vaginum after puberty, also had history of excessive blood loss after birth of child. Her coagulation profile was normal but platelet function testing by platelet aggregation assay showed abnormal aggregation of platelet with epinephrine. This type of response is seen in "Quebec platelet disorder" which is a rare autosomal dominant disorder of platelet function characterized by increased bleeding after any injury or trauma.
Abbasi
Anwar Hussain
AH
Department of Medicine, The Aga Khan University Hospital, Karachi. anwar.abbasi@aku.edu
Shaikh
Quratulain
Q
Hussain
Syed Ather
SA
D000328:Adult; D001791:Blood Platelet Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D004844:Epistaxis / Q000209:etiology; D005260:Female; D006801:Humans; D008595:Menorrhagia / Q000209:etiology; D010375:Pedigree; D010974:Platelet Aggregation