Familial hypercholesterolemia: A genetic receptor disease

Research output: Contribution to journalArticle

12 Scopus citations


We now understand the biochemical basis of this disorder, which affects one person in 500 in the United States. It is inherited as an autosomal dominant or quasi-dominant trait, with phenotypic effects expressed in heterozygotes as well as in homozygotes. Diagnosis is possible at birth, but effective treatment is thus far available only for the heterozygous form.

Original languageEnglish (US)
Pages (from-to)35-46
Number of pages12
JournalHospital Practice
Issue number11
Publication statusPublished - 1985


ASJC Scopus subject areas

  • Medicine(all)

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