CEREBRAL VASCULAR EVENTS WITH HYPERHOMOCY STEINEMIA - CONTROLLING THROMBOEMBOLIC EVENTS WITH FOLATES

BACKGROUND: Young patients who experience cardiovascular events may ha ve raised levels of homocysteine. There may be several causes for this hyperhomocysteinemia. CASE REPORT: Cerebrovascular disease occurred i n a 40-year-old female smoker with hyperhomocysteinemia. This patient subsequently had several episodes of thromboembolism involving the bra in and lower limb arteries. Prothrombin concentration was difficult to control with antivitamin K anticoagulants. Investigations to identify a genetic cause of hyperhomocysteinemia revealed that she was homozyg ous for the C677T mutation on the methylenetetrahydrofolate reductase gene. There was no G1691A mutation of the factor V gene, a risk factor for familial thrombosis. Supplementation with folic add successfully halted episodes of thromboembolism (follow-up 2 years) and prothrombin levels stabilized under treatment. DISCUSSION: The C677T mutation, wh ich is common in the general population (15.7%), cannot explain the ef fect of folate supplementation alone. Other mutations affecting homocy steine metabolism could have a potentializing effect on vascular event s.