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Stroke, Vol 24, 1599-1600, Copyright © 1993 by American Heart Association

ARTICLES

Familial cerebrovascular accidents due to concomitant hyperhomocysteinemia and protein C deficiency type 1

DG Franken, A Vreugdenhil, GH Boers, A Verrips, HJ Blom and IR Novakova
Department of Medicine, University Hospital Nijmegen, The Netherlands.

BACKGROUND AND PURPOSE: Hyperhomocysteinemia and protein C deficiency are risk factors for thromboembolism. Hyperhomocysteinemia has been reported to inhibit the expression of thrombomodulin and to inactivate both thrombomodulin and protein C irreversibly, leading to decreased protein C activity. CASE DESCRIPTIONS: In a 16-year-old girl, who developed a sinus sagittalis thrombosis, and in her father, who experienced a transient ischemic attack, both hyperhomocysteinemia and protein C deficiency type 1 were present. Protein C deficiency alone was found in one of the two sisters, who was without any clinical vascular history. CONCLUSIONS: In this family with independently inherited hyperhomocysteinemia and protein C deficiency, clinical cerebrovascular disease occurred only in those members with a combination of both risk factors, suggesting a synergistic interaction between these thrombogenic risk factors.

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