A STUDY OF CARDIOVASCULAR RISK IN HETEROZYGOTES FOR HOMOCYSTINURIA

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  • 1 January 1981
    • journal article
    • research article
    • Vol. 33  (6) , 883-893
Abstract
Early atherosclerotic-like lesions and thromboembolic problems are prominent in homocystinuric patients. Mild homocyst(e)inemia, such as is present in heterozygotes for homocystinuria due to cystathionine synthase deficiency, may cause a marked excess in early ischemic heart disease. To evaluate the risk due to mild homocyst(e)inemia, the frequencies of heart attacks and strokes in parents and grandparents of homocystinuric children were assessed in the present study. No statistically significant increases in the incidence of heart attacks or strokes were consistently detected. The data available are sufficient to virtually exclude an increase in the cardiovascular risk for homocystinuria heterozygotes of as much as 5-fold compared to controls, and to make very improbable a relative risk of as much as 3-fold. Less than 5% of homocystinuria heterozygotes are likely to have a fatal or nonfatal heart attack by age 50. Mild homocyst(e)inemia is evidently not an important contributory factor in the overall incidence of cardiovascular disease.