Familial Hypercholesterolemia: Challenges for a High-Risk Population: JACC Focus Seminar 1/3

Daein Choi, Waqas A. Malick, Wolfgang Koenig, Daniel J. Rader, Robert S. Rosenson

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


The availability of statins, ezetimibe, and PCSK9 inhibitors has significantly improved the prognosis of familial hypercholesterolemia (FH). However, a great number of individuals with FH do not achieve guideline-recommended low-density lipoprotein (LDL) cholesterol levels despite maximal lipid-lowering therapy. Novel therapies that lower LDL independent of LDL receptor activity can help mitigate atherosclerotic cardiovascular disease risk in most homozygous FH and many heterozygous FH patients. However, access to novel therapies remains limited for heterozygous FH patients with persistent elevation of LDL cholesterol despite treatment with multiple classes of cholesterol-lowering therapies. Conduction of cardiovascular outcomes clinical trials in patients with FH can be challenging because of difficulty in recruitment and long periods of follow-up. In the future, the use of validated surrogate measures of atherosclerosis may allow for clinical trials with fewer study participants and shorter duration, thereby expediting access to novel treatments for patients with FH.

Original languageEnglish
Pages (from-to)1621-1632
Number of pages12
JournalJournal of the American College of Cardiology
Issue number16
StatePublished - 25 Apr 2023


  • LDL cholesterol
  • clinical trials
  • familial hypercholesterolemia
  • lipid-lowering therapies


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