[Familial thromboembolic disease associated with antithrombin III deficiency (author's transl)].
The authors report the observation of a new kindred with hereditary antithrombin III deficiency. In the last three generations, the family comprised 10 subjects, 7 of whom were affected: the grandmother had recurrent thrombophlebitis; her three sons died from pulmonary embolism at 22, 26 and 28 respectively and her daughter had repeated bouts of thrombophlebitis. In patients with hereditary antithrombin III deficiency, venous thrombosis occurs under similar conditions as, and is clinically similar to, thrombosis in patients without this defect. Usual tests of hemostasis are normal. The diagnosis is however suspected through an history of recurrent episodes and of similar cases in relatives. The diagnosis is confirmed by demonstration of low levels of antithrombin III in suspected patient and family. The disease is transmitted as autosomic dominant trait. Heparin is ineffective but oral anticoagulants may prevent occurence or recurrence of thrombosis in patients with this genetic defect.
D000328:Adult; D020152:Antithrombin III Deficiency; D005260:Female; D006801:Humans; D008297:Male; D013923:Thromboembolism / Q000097:blood / Q000235:genetics*
Maladie thrombo-embolique familiale et déficit en antithrombine III.