Familial antithrombin III deficiency and its clinical significance

Abstract

A young Japanese male with multiple thromboembolism was found to have antithrombin III deficiency. A family survey spanning 4 generations revealed a total of 4 members with AT III deficiency. Two of these 4 affected members, including the propositus, had experienced thrombotic problems. Besides the reduced AT III levels, hyperlipidemia was observed in all the affected members, particularly in the levels of triglyceride and phospholipid. Treatment with warfarin led to an increasing tendency in AT III level. The mode of inheritance of the defect was found to be autosomal dominant. A discussion of the significance of AT III deficiency is given together with a brief review of previously reported cases.