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A family living in Lewis (a Hebridean Island off the north west coast of Scotland) affected by antithrombin III deficiency has been studied. Two members have died, one of massive pulmonary embolism and one of major mesenteric infarction secondary to mesenteric vein occlusion. A further individual has sustained major small bowel infarction secondary to mesenteric vein thrombosis but survived after two small bowel resections followed by anticoagulant therapy. Other members of the family have suffered from nonfatal thrombotic events particularly during pregnancy. 57 individuals representing several generations have been studied and will be presented. Levels of antithrombin III measured by functional assays correlated well with those of antithrombin III measured immunologically. 12 members of the family showed moderate to severe deficiency of antithrombin III, the occurrence of thrombotic symptoms correlating well with deficiency of this protein. Transmission of the disorder as an autosomal dominant disorder is confirmed in the patients studied and by historical evidence over many generations.

Familial Thrombosis Due to Antithrombin III Deficiency: An Extensive Family Study