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The inheritance of essential familial hypercholesterolemia

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      Abstract

      Twelve patients with marked hypercholesterolemia and extensive xanthomatosis, representing ten sibships, are described. The presence of hypercholesterolemia in all the parents tested and the high incidence of consanguinity in these sibships leaves little doubt that these patients are homozygotes.
      The inheritance pattern in these sibships conforms to that of an incompletely dominant gene. Persons homozygous for the condition have high levels of serum cholesterol, extensive xanthomas starting in childhood, and frequently advanced heart disease in youth. Heterozygous persons have moderate elevation of the serum cholesterol and xanthomatosis to a small extent may develop late in life. The occurrence of xanthomatosis in the heterozygote as well as in the homozygote reconciles the opposing theories for the inheritance of the disorder.
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