Related Experiment Video
Updated: May 7, 2025
10:56
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
8.1K
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
Summary
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.
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