Inherited Antithrombin III Deficiency and Cerebral Thrombosis in a Child

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Abstract
Identification of a family affected by antithrombin III-heparin cofactor (AT-III) deficiency was made after diagnosis of the index case, a 15 yr old boy who suffered cerebral thombosis. The proband had a 2 yr history of recurrent thrombosis involving the lower extremities. His mother and sister were also affected. Studies showed a decreased biological activity (AT-IIIc) and antigen (AT-IIIag) by the Laurell technique in the proband (AT-IIIc = 0.32, AT-IIIag = 46%), his sister (AT-IIIc = 0.29, AT-IIIag = 47%), and his mother (AT-IIIc = 0.41, AT-IIIag = 56%). Crossed immunoelectrophoresis (CIE) of the affected individuals'' plasma in agarose-containing heparin demonstrated a normal pattern of migration. Treatment with warfarin sodium (Coumadin) resulted in an increase in activity in 2 of 3 affected family members, and in antigen in all 3. Anticoagulant therapy did not affect the pattern of AT-III on CIE. This family represents a quantitative deficiency in antithrombin III. A review of the reported cases of antithrombin III deficiency indicates that individuals with this disorder may have thromboembolic disease in childhood.