title: Familial hypercholesterolemia: mechanism of inheritance.
abstract: We have studied a large family of 95 members with a defect in the metabolism of cholesterol, which is transmitted through three generations. The following characteristics of the family support the classification of the disorder as familial hypercholesterolemia : hypercholesterolemia, increased levels of phospholipids an beta-lipoproteins, normal values of triglycerides, pre-beta-lipoproteins and blood sugar, xanthomas, xanthelasmas, corneal arcus and early appearance of ischemic heart disease. Segregation analyses of the hypercholesterolemia and the findings of a bimodal distribution of total plasma cholesterol in the family suggest a monogenic autosomal dominant mechanism of transmission of this lipid disorder.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D003327:Coronary Disease / Q000150:complications; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000150:complications / Q000235:genetics*; D007223:Infant; D008077:Lipoproteins, LDL / Q000097:blood; D008079:Lipoproteins, VLDL / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010743:Phospholipids / Q000097:blood; D014280:Triglycerides / Q000097:blood; D014973:Xanthomatosis / Q000150:complications
chemical_list: D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL; D010743:Phospholipids; D014280:Triglycerides; D002784:Cholesterol