[TREATMENT OF HOMOZYGOTES OF FAMILIAL HYPERCHOLESTEROLEMIA: RECOMMENDATIONS OF THE ISRAELI SOCIETY OF...

Area of Science:

• Genetics
• Cardiovascular Medicine
• Pharmacology

Background:

• Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder affecting LDL receptor function.
• Homozygous FH (hoFH) significantly shortens lifespan due to premature atherosclerosis and cardiovascular mortality.
• The Israeli population has a notable carrier frequency (1:250) and hoFH prevalence (1:500,000).

Purpose of the Study:

• To outline an aggressive lipid-lowering treatment strategy for homozygous Familial Hypercholesterolemia (hoFH).
• To emphasize early diagnosis and intervention for hoFH patients.
• To recommend genetic evaluation and cascade screening for FH.

Main Methods:

• Intensive LDL-C lowering therapy initiated immediately upon diagnosis.
• Combination therapy including high-dose statins, ezetimibe, PCSK9 inhibitors (Evolocumab), and LDL-C apheresis.
• Consideration of Lomitapide to reduce apheresis frequency.

Main Results:

• The study outlines a multi-faceted approach to achieve aggressive LDL-C reduction in hoFH.
• Recommended lipid goals involve at least a 50% reduction in LDL-C.
• The described treatment aims to mitigate premature cardiovascular mortality in hoFH patients.

Conclusions:

• Early and intensive lipid-lowering therapy is essential for managing hoFH.
• Referral to lipid specialist clinics and genetic screening are recommended.
• A combination of pharmacological and apheresis treatments is necessary for optimal outcomes in hoFH.