Identification of people with heterozygous familial hypercholesterolemia

Annie Haase, Anne C. Goldberg

Research output: Contribution to journalReview article

32 Scopus citations


Purpose of Review: Familial hypercholesterolemia is an underdiagnosed autosomal codominant genetic condition associated with significantly increased risk of early cardiovascular disease when untreated. Early diagnosis and treatment decrease the excess risk, and strategies for identification of affected individuals are being developed worldwide. This review will discuss, from a clinician's perspective, some of the issues involved in identifying people with familial hypercholesterolemia. Recent Findings: Several sets of recommendations have been published outlining the strategies for identification of people with familial hypercholesterolemia in various countries and regions. These include Australasia, Europe, and the USA. Summary: Continuing efforts to find the best methods for identification of people with familial hypercholesterolemia are needed to ensure that this very treatable inherited condition is diagnosed early enough to prevent the development of atherosclerotic vascular disease.

Original languageEnglish
Pages (from-to)282-289
Number of pages8
JournalCurrent opinion in lipidology
Issue number4
StatePublished - Aug 1 2012


  • cascade screening
  • familial hypercholesterolemia
  • genetic testing
  • universal screening

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