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Updated: Aug 2, 2025

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Familial Hypercholesterolemia: Challenges for a High-Risk Population: JACC Focus Seminar 1/3

Daein Choi1, Waqas A Malick2, Wolfgang Koenig3

  • 1Department of Medicine, Mount Sinai Beth Israel, Icahn School of Medicine at Mount Sinai, New York, New York, USA; The Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Journal of the American College of Cardiology
|April 19, 2023
PubMed

Insights

Familial hypercholesterolemia (FH) patients often don't reach LDL goals with current therapies. Novel treatments and surrogate measures in clinical trials are needed to improve outcomes and access for FH individuals.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Pharmacology

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder leading to high LDL cholesterol.
  • Current therapies like statins, ezetimibe, and PCSK9 inhibitors improve FH prognosis but are often insufficient.
  • Many FH patients remain at high risk for atherosclerotic cardiovascular disease (ASCVD) due to persistent high LDL cholesterol.

Purpose of the Study:

  • To review the current landscape of lipid-lowering therapies for FH.
  • To discuss the challenges and potential solutions for novel therapy access in FH.
  • To explore the role of surrogate measures in accelerating clinical trials for FH treatments.

Main Methods:

  • Literature review of current FH management strategies.
  • Analysis of challenges in clinical trial recruitment and duration for FH.
  • Discussion of emerging therapeutic targets and trial methodologies for FH.

Main Results:

  • Despite maximal therapy, many FH patients fail to achieve target LDL cholesterol levels.
  • Novel LDL-lowering therapies offer promise but face access limitations for heterozygous FH.
  • Clinical trials for FH treatments are hampered by recruitment difficulties and long follow-up periods.

Conclusions:

  • Advancements in lipid-lowering therapies have improved FH outcomes, yet unmet needs persist.
  • Facilitating access to novel therapies is crucial for managing persistent hypercholesterolemia in FH.
  • Validated surrogate measures for atherosclerosis could expedite clinical trials and treatment availability for FH patients.

Keywords:
LDL cholesterolclinical trialsfamilial hypercholesterolemialipid-lowering therapies

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