Familial and constitutional bleeding disorder due to platelet cyclo-oxygenase deficiency.
Three family members from two successive generations had a bleeding tendency. Their template bleeding time was prolonged and platelet aggregation induced by ADP and adrenaline showed no second wave; collagen at low to moderate concentrations failed to aggregate and release ATP, whereas higher amounts aggregated and released. Aggregation and release due to thrombin, ristocetin, and synthetic epoxy derivatives (U 44069 and U 46619) were normal. Arachidonate (AA) was inactive, and was not converted either in thromboxane (TX) A2 activity evaluated on the rabbit aorta strip, nor in TXB2 evaluated by radioimmunoassay and by radiochromatography. The parallel impairment of TXB2 and PGE2 formation by the patient's platelets are compatible with a platelet cyclo-oxygenase deficiency. This study suggests that transmission is autosomal dominant, and confirms that cyclo-oxygenase is not needed for aggregation and ATP release by high amounts of collagen.
D000293:Adolescent; D000328:Adult; D001095:Arachidonic Acids / Q000378:metabolism; D001760:Bleeding Time; D001780:Blood Coagulation Tests; D001791:Blood Platelet Disorders / Q000235:genetics* / Q000378:metabolism; D001792:Blood Platelets / Q000201:enzymology*; D002675:Child, Preschool; D015232:Dinoprostone; D005260:Female; D006801:Humans; D008297:Male; D010974:Platelet Aggregation; D011451:Prostaglandin-Endoperoxide Synthases / Q000172:deficiency*; D011458:Prostaglandins E / Q000378:metabolism; D013928:Thromboxane A2 / Q000378:metabolism; D013929:Thromboxane B2 / Q000378:metabolism
D001095:Arachidonic Acids; D011458:Prostaglandins E; D013929:Thromboxane B2; D013928:Thromboxane A2; D011451:Prostaglandin-Endoperoxide Synthases; D015232:Dinoprostone