Cellular and Molecular Aspects of Managing Familial Hypercholesterolemia: Recent and Emerging Therapeutic Approaches

Area of Science:

• Genetics
• Cardiovascular Medicine
• Molecular Biology

Background:

• Familial hypercholesterolemia (FH) is a prevalent genetic disorder characterized by high LDL-C levels and early cardiovascular disease.
• Clinical diagnosis relies on patient/family history, LDL-C levels, physical signs, and genetic mutations in LDLR, apoB, or PCSK9.
• Early identification and intervention significantly improve life expectancy for individuals with FH.

Purpose of the Study:

• To explore cellular and molecular strategies for treating Familial hypercholesterolemia.
• To review current and emerging therapeutic approaches for managing FH.

Main Methods:

• Review of current literature on FH diagnosis and treatment.
• Analysis of existing and novel cellular and molecular therapeutic targets for FH.

Main Results:

• Current therapies, including statins, ezetimibe, PCSK9 inhibitors, inclisiran, and bempedoic acid, aim to reduce LDL-C levels.
• Some FH patients do not reach target LDL-C levels with existing treatments, necessitating further therapeutic options.
• Emerging strategies such as gene therapy and CRISPR/Cas9 offer future potential for FH treatment.

Conclusions:

• Despite advances, achieving target LDL-C in all FH patients remains challenging.
• Cellular and molecular approaches hold significant promise for developing more effective FH treatments.
• Continued research into novel therapies is essential for improving outcomes in Familial hypercholesterolemia.