The Inheritance of High Density Lipoprotein Deficiency (Tangier Disease)*

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Abstract
Tangier disease, a familial syndrome consisting of nearly complete absence of plasma high density lipoprotein (HDL) with tissue storage of cholesterol esters, is associated clinically with hypo-cholesterolemia, very large red-orange tonsils, and sometimes hepatosplenomegaly. Plasma concentrations of HDL, as measured by cholesterol in the ultracentrifugal fraction of D > 1.063, in 135 relatives from 2 sibships with Tangier disease were compared with 320 controls. The distribution in the affected population was shifted well below those in the controls in both sexes. "Abnormally low" HDL, defined arbitrarily as below the 5 percent limit of the controls, was distributed in the kindreds consistent with the following hypothesis: (1) a single pair of autosomal genes exerts major control over plasma HDL concentrations; (2) the phenotype due to a single abnormal mutant may be recognized by low HDL and (3) the homozygous abnormal has no significant plasma HDL and tissue storage of cholesterol esters.

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