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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
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Homozygous Familial Hypercholesterolemia Treatment: New Developments

Dirk J Blom1, A David Marais2, Frederick J Raal3

  • 1Division of Lipidology and Cape Heart Institute, Department of Medicine, University of Cape Town, Cape Town, South Africa. dirk.blom@uct.ac.za.

Current Atherosclerosis Reports
|January 3, 2025
PubMed

Insights

Novel therapies for homozygous familial hypercholesterolaemia (HoFH) offer new ways to lower low-density lipoprotein cholesterol (LDLC). Some treatments depend on receptor function, while others work independently, improving patient outcomes.

Area of Science:

  • Cardiology
  • Pharmacology
  • Genetics

Background:

  • Homozygous familial hypercholesterolaemia (HoFH) causes severely high low-density lipoprotein cholesterol (LDLC).
  • Patients with HoFH face a high risk of premature atherosclerotic cardiovascular disease.

Purpose of the Study:

  • This review examines novel pharmacological therapies for lowering LDLC in HoFH patients.
  • Focus on treatments that improve cardiovascular outcomes in HoFH.

Main Methods:

  • Review of current literature on emerging pharmacological interventions for HoFH.
  • Categorization of therapies based on low-density lipoprotein receptor (LDLR) dependency.

Main Results:

  • LDLR-dependent therapies (e.g., PCSK9 inhibitors like alirocumab, evolocumab, inclisiran) show variable efficacy based on residual LDLR function.
  • LDLR-independent therapies (e.g., lomitapide, evinacumab, zodasiran) achieve approximately 50% LDLC reduction regardless of LDLR function.
  • Combination therapy is often necessary for HoFH patients to reach LDLC targets.

Conclusions:

  • Novel LDLR-independent therapies offer significant potential for HoFH management.
  • Improved LDLC control may reduce the need for apheresis or liver transplantation.
  • These advancements promise a better outlook for patients with HoFH.
Abstract

Keywords:
Angiopoietin like factor 3Gene editingHomozygous familial hypercholesterolemiaMicrosomalProprotein convertase subtilisin kexin type 3Triglyceride transfer protein

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