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Updated: Aug 26, 2025
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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
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New algorithms for treating homozygous familial hypercholesterolemia
Tycho R Tromp1, Marina Cuchel2
1Department of Vascular Medicine, Amsterdam UMC, Location AMC, Amsterdam, The Netherlands.
Current Opinion in Lipidology
|October 7, 2022
Summary
Managing homozygous familial hypercholesterolemia (HoFH) requires multiple lipid-lowering therapies (LLT). Newer treatments offer improved LDL-C reduction, but cost and availability remain key challenges.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Pharmacology
Background:
- Homozygous familial hypercholesterolemia (HoFH) presents a severe challenge in managing extremely high LDL-C levels.
- Patients with minimal LDL receptor function often require intensive treatment regimens, including lipoprotein apheresis.
Approach:
- This review synthesizes current and emerging therapeutic strategies for HoFH.
- An adaptable treatment algorithm is proposed, integrating various lipid-lowering therapies (LLT).
Key Points:
- Novel therapies like lomitapide and evinacumab, independent of LDL receptors, significantly improve outcomes.
- Gene therapy presents a promising future avenue for HoFH treatment.
- Addressing residual cardiovascular risks beyond LDL-C, such as Lp(a) and inflammation, is crucial.
Conclusions:
- Combination LLT, including advanced pharmacological agents, enables unprecedented LDL-C reduction in HoFH.
- Future challenges include ensuring cost-effectiveness and accessibility of novel HoFH therapies.
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