Familial functional antithrombin III deficiency.
A family with a tendency to thrombosis and decreased antithrombin III (AT III) activity in plasma, but normal immunoreactive AT III is reported. 7 members of the family had the AT III defect, 4 of whom have had thrombotic episodes. The importance of biological determination of AT III when studying patients with recurrent thrombotic episodes is emphasized.
D000328:Adult; D000990:Antithrombin III / Q000032:analysis / Q000235:genetics; D020152:Antithrombin III Deficiency; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011655:Pulmonary Embolism / Q000097:blood / Q000150:complications / Q000235:genetics; D012008:Recurrence; D013924:Thrombophlebitis / Q000097:blood / Q000150:complications / Q000235:genetics*; D014859:Warfarin
D014859:Warfarin; D000990:Antithrombin III