Familial antithrombin III deficiency.
Antithrombin III is the major physiological inhibitor of the coagulation mechanism and a deficiency of this protein results in a marked predisposition to venous thromboembolic disease. Three Scottish families with a deficiency of this protein are described and other reported families are reviewed. The properties, functions and methods of assay of antithrombin III are outlined; the molecular abnormalities, inheritance, clinical and laboratory characteristics of antithrombin III deficiency are described, and the use of antithrombotic drugs and human antithrombin III concentrates in this deficiency is discussed.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000990:Antithrombin III / Q000032:analysis / Q000235:genetics; D020152:Antithrombin III Deficiency; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000188:drug therapy; D011655:Pulmonary Embolism / Q000188:drug therapy / Q000235:genetics*; D013924:Thrombophlebitis / Q000188:drug therapy / Q000235:genetics*; D014859:Warfarin / Q000627:therapeutic use
D014859:Warfarin; D000990:Antithrombin III