Hereditary hemorrhagic telangiectasia. A family study.
The authors report a comprehensive evaluation of the hemostatic system in eight related patients with hereditary hemorrhagic telangiectasia (HHT). Unlike in previous reports, they could find no evidence for abnormalities in platelet aggregation or for qualitative abnormalities of the Factor VIII complex. The authors did identify a subgroup of the more severely affected patients in whom Factor VIIIc levels were increased, with shortened activated partial thromboplastin times (APTTs) associated with mild elevations of antithrombin III.
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000990:Antithrombin III / Q000378:metabolism; D001779:Blood Coagulation Factors / Q000378:metabolism; D005169:Factor VIII / Q000378:metabolism; D005260:Female; D005340:Fibrinogen / Q000378:metabolism; D006487:Hemostasis; D006801:Humans; D008297:Male; D008875:Middle Aged; D010314:Partial Thromboplastin Time; D010375:Pedigree; D010974:Platelet Aggregation; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000097:blood / Q000235:genetics*
D001779:Blood Coagulation Factors; D000990:Antithrombin III; D005169:Factor VIII; D005340:Fibrinogen