HELMUT G. SCHROTT, M.D.; JOSEPH L. GOLDSTEIN, M.D.; WILLIAM R. HAZZARD, M.D.; MICHAEL M. MCGOODWIN, M.D.; ARNO G. MOTULSKY, M.D., F.A.C.P.
The traditional view that familial hypercholesterolemia (type II hyperlipoproteinemia) is inherited as an autosomal-dominant trait has been recently questioned. Instead, it has been suggested that multiple genes (polygenic inheritance) rather than a single gene (monogenic) might be involved. Investigation of a large Aleutian kindred consisting of 92 members provides evidence that at least one type of familial hypercholesterolemia is determined by a monogenic mechanism. Bimodality in the distribution of total plasma cholesterol values was demonstrated for both near and distant relatives at all ages. The mutant gene in this kindred  segregates as an autosomal-dominant trait,  specifies elevations in cholesterol of plasma low-density lipoprotein,  does not affect the level of plasma triglyceride, and  leads to early appearance of xanthomas and coronary atherosclerosis.
SCHROTT HG, GOLDSTEIN JL, HAZZARD WR, MCGOODWIN MM, MOTULSKY AG. Familial Hypercholesterolemia in a Large Kindred: Evidence for a Monogenic Mechanism. Ann Intern Med. ;76:711–720. doi: 10.7326/0003-4819-76-5-711
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Published: Ann Intern Med. 1972;76(5):711-720.
Cardiology, Coronary Risk Factors, Dyslipidemia.
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