Hereditary Thrombotic Disorders

In contrast to the deficiency states described to this point, a hereditary deficiency of certain of the inhibitors of clotting results in an increased tendency to thrombosis. Thus, familial recurrent thrombosis has been observed in individuals of both sexes, with inherited partial deficiencies of antithrombin III, protein C, protein S, or heparin cofactor II. The affected individuals, most of whom are heterozygotes (i.e., they have inherited an abnormal gene from but one parent), have about half the concentration of the inhibitory proteins of normal individuals. Only a handful of cases of deficiencies of heparin cofactor II, protein C, or protein S have been recorded, but a deficiency of antithrombin III is relatively common.

In Massachusetts, the prevalence is said to be about 50 per 100,000. No geographic or racial predilection has been reported.

Most of the reported cases of deficiencies of these several inhibitors have been in individuals of European origin. Additional instances of antithrombin III deficiency have been recognized in Japanese, Algerians, and American blacks; protein C deficiency has been seen in Jordanian and Israeli Arabs, and in Japanese; and protein S deficiency has been reported in Japan.

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