[Hereditary antithrombin III deficiency causing recurrent thrombo-embolic problems (author's transl)].
A marked deficiency in antithrombin III (AT III) was demonstrated in a 39-year-old man suffering from recurrent thrombo-embolic problems. The patient's father had died following a thrombo-embolic disorder. A certain number of members of the family also showed evidence of a marked decrease in AT III levels. Although it was not possible to study the patient's parents, it would seem reasonable to conclude that the diagnosis was one of hereditary deficiency in AT III. The various aspects of this disorder discovered by Egeberg are reviewed: early onset, in several members of the same family, or recurrent thrombo-embolic problems, accompanied by a decrease in functional activity of one of the principal inhibitors of thrombin (AT III), with autosomal dominant transmission and treatment based upon anti-vitamin K agents.
D000328:Adult; D000991:Antithrombins / Q000032:analysis / Q000502:physiology; D005799:Genes, Dominant; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D008297:Male; D008722:Methods; D013923:Thromboembolism / Q000188:drug therapy / Q000235:genetics / Q000378:metabolism; D014812:Vitamin K / Q000037:antagonists & inhibitors
D000991:Antithrombins; D014812:Vitamin K; D006493:Heparin
Déficit héréditaire en anti-thrombine III responsable d'accidents thrombo-emboliques récidivants.