[Hereditary antithrombin III deficiency as a cause of an increased tendency to thrombosis. Case report].
A family with antithrombin III (AT III) deficiency is described. Four brothers or seven siblings show markedly reduced AT III levels (functional assay 39-47%, immunoassay 54-58%). Three developed thromboses and pulmonary embolism at the ages of 11, 17 and 20 years respectively. Longterm oral anticoagulation therapy has been instituted in all four brothers.
D000293:Adolescent; D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D000990:Antithrombin III / Q000032:analysis; D020152:Antithrombin III Deficiency; D001796:Blood Protein Disorders / Q000150:complications / Q000235:genetics; D002648:Child; D006801:Humans; D008297:Male; D010375:Pedigree; D011655:Pulmonary Embolism / Q000188:drug therapy / Q000209:etiology*; D013927:Thrombosis / Q000188:drug therapy / Q000209:etiology*
D000925:Anticoagulants; D000990:Antithrombin III
Hereditärer Antithrombin-III-Mangel als Ursache erhöhter Thromboseneigung. Ein Fallbericht.