A family consisting of a mother and father, heterozygous for idiopathic hyperlipemia, and their four offspring, one heterozygous and three homozygous for the disease, are described. In addition, a fifth child who is heterozygous, born of same mother but by another incompletely studied father, is presented. The genetics of the disease in this family, and also in the general population, with emphasis on diagnosis and prognosis in heterozygotes is discussed. The interrelationship of various lipid components in serum and their metabolism are briefly reviewed. The possible defective mechanisms in hyperlipemia, the techniques for deciding on the specific defect, and their application to the members of this family are reviewed. The effect of heparin, nicotinic acid, and fat-free diets in the homozygous members of the family are evaluated and their therapeutic applications are discussed. The symptomatology, possible pathologic physiology, relationship to lipid levels in serum and occurrence of abdominal crises in some of the homozygous members of this family are pointed out. The relationship of cholesterol and triglyceride levels in serum to, and the significance of, idiopathic hyperlipemia in the genesis of, atherosclerosis and coronary artery disease is elucidated.
Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease