title: Inherited bleeding disorder due to familial type 2 platelet cyclo-oxygenase deficiency.
abstract: Inherited platelet cyclo-oxygenase (COX) deficiency is a rare bleeding disorder. We report here the first case of familial type 2 platelet COX deficiency responsible for a moderate bleeding phenotype. The propositus was admitted in the emergency department for major epistaxis following treatment with aspirin. Epinephrine closure time is very sensitive to drugs which inhibit COX but the test was normal in patients with inherited COX deficiency. This clinical and biological data suggest that the anti-platelet effect of aspirin may be dependent on mechanisms other than the inhibition of COX. Thrombin generation test confirmed mild bleeding phenotype in patients with COX deficiency as they had normal thrombin generating capacity.
authors.affiliation: Laboratoire d'Hémostase, pav. E Hopital Edouard Herriot 5, place d'Arsonval 69003 Lyon, France. ydargaud@univ-lyon1.fr
authors.forename: Yesim
authors.initials: Y
authors.lastname: Dargaud
authors.forename: Jean C
authors.initials: JC
authors.lastname: Bordet
authors.forename: Marie C
authors.initials: MC
authors.lastname: Trzeciak
authors.forename: Martine
authors.initials: M
authors.lastname: Mazet
authors.forename: Marc
authors.initials: M
authors.lastname: Dechavanne
authors.forename: Claude
authors.initials: C
authors.lastname: Negrier
mesh_terms: D000293:Adolescent; D000328:Adult; D001241:Aspirin / Q000009:adverse effects; D001760:Bleeding Time; D001778:Blood Coagulation Disorders / Q000097:blood / Q000235:genetics*; D001791:Blood Platelet Disorders / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D011451:Prostaglandin-Endoperoxide Synthases / Q000172:deficiency* / Q000235:genetics
chemical_list: D011451:Prostaglandin-Endoperoxide Synthases; D001241:Aspirin