title: [Recurrent familial thromboembolic disease due to congenital deficiency in anti-thrombin III. Preliminary study of 3 cases (author's transl)].
abstract: The three cases reported, two mesenteric venous infarctions and one asymptomatic carrier, prove the responsibility of the anti-thrombin III deficiency in the development of apparently primary entero-mesenteric venous infarctions. Thus such a deficiency should be sought routibs. Furthermore, these 3 cases confirm the usual characteristics of the 10 familial cases collected since the princeps description of Egeberg: recurrent thromboembolic disease in the young subject involving essentially the lower limbs, relative resistance to heparin, family history of thromboembolic disease confirming the hereditary nature of the disease with dominant transmission, laboratory confirmation of the quantitative deficiency in antithrombin III, the levels and activity of which are reduced by half, and decrease in laboratory sensitivity to heparin contrasting with normal clotting studies. The family history reveals associated conditions within the syndrome: asthma and Biermer's anemia as well as similarities in leucocyte HLA groups.
mesh_terms: D020152:Antithrombin III Deficiency; D001780:Blood Coagulation Tests; D005260:Female; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D013923:Thromboembolism / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*
chemical_list: D006493:Heparin
vernacular_title: Maladie thrombo-embolique familiale récidivante par déficit congénital en anti-thrombine III. Etude préliminaire de 3 observations.