Inherited bleeding disorder due to familial type 2 platelet cyclo-oxygenase deficiency

• Published in: Thrombosis research Vol. 116; no. 6; pp. 483 - 489
• Main Authors: Dargaud, Yesim, Bordet, Jean C., Trzeciak, Marie C., Mazet, Martine, Dechavanne, Marc, Negrier, Claude
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Ltd 2005; Elsevier Science
• Subjects: Adolescent; Adult; Aspirin; Aspirin - adverse effects; Biological and medical sciences; Bleeding Time; Blood and lymphatic vessels; Blood Coagulation Disorders - blood; Blood Coagulation Disorders - genetics; Blood coagulation. Blood cells; Blood Platelet Disorders - genetics; Blood Platelet Disorders - metabolism; Blood vessels and receptors; Cardiology. Vascular system; Cyclo-oxygenase 1 deficiency; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; Female; Fundamental and applied biological sciences. Psychology; Humans; Male; Medical sciences; Molecular and cellular biology; Pedigree; PFA-100 testing; Platelet; Prostaglandin-Endoperoxide Synthases - deficiency; Prostaglandin-Endoperoxide Synthases - genetics; Thrombin generation; Thrombocytopathy; Vertebrates: cardiovascular system; AA; ETP; TGT; ACD; Aspirin; TX; 12-HETE; Cyclo-oxygenase 1 deficiency; PGHS; 12-HHTrE; Thrombin generation; TRAP; ADP; COX; PFA-100 testing; PRP; Thrombocytopathy; PPP; TF; Platelet; PG; Prostaglandin-endoperoxide synthase; Nose disease; Hemostatic; Cardiovascular disease; Thrombin; Hemopathy; Acetylsalicylic acid; Hemorrhage; ENT disease; Salicylates; Epinephrine; Human; Serine endopeptidases; Enzyme; Deficiency; Enzyme inhibitor; Catecholamine; Antiplatelet agent; Genetic disease; Non steroidal antiinflammatory agent; Case study; Oxygenase; Peptidases; Epistaxis; Phenotype; Analgesic; Treatment; Antipyretic; Hydrolases; Oxidoreductases; Emergency; Coagulopathy
• ISSN: 0049-3848; 1879-2472
• DOI: 10.1016/j.thromres.2005.02.004

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.