ISCHEMIC DISEASE IN MEN AND WOMEN WITH FAMILIAL HYPERCHOLESTEROLEMIA AND XANTHOMATOSIS - COMPARATIVE-STUDY OF GENETIC AND ENVIRONMENTAL-FACTORS IN 274 HETEROZYGOUS CASES

The incidence of ischemic diseases in familial hypercholesterolemia and xanthomatosis (familial Type II) was studied in a group of 158 men and 116 women. Men and women did not differ with regard to the inherited metabolic disease. Levels of serum cholesterol, the marker of the genetic defect, were not statistically different, and cholesterol deposition in tissues, visualized by skin and tendon xanthomas, was not sex related. Men and women were different with regard to ischemic diseases. The incidence was much lower in women, and the mean age of onset 9 yr later. There was a sex difference in the nature of the ischemic disease, with a high male predominance of myocardial infarction. Since the major risk factor hypercholesterolemia could not explain such a difference, the role of other risk factors was investigated. The incidence of ischemic diseases was increased in women by cigarette smoking and hypertension, and the difference in age of onset between males and females was no longer seen in smoking women. The genetic factor apparently is responsible for the atherosclerotic lesion in both sexes and other factors playing a role in ischemic complications including tobacco and hypertension may explain the difference between men and women.