Why the study?
Most individuals with HoFH are resistant to conventional lipid-lowering therapies, but new agents providing LDL-receptor independent cholesterol reduction are emerging.
This review summarizes current and emerging lipid-lowering therapies for homozygous familial hypercholesterolemia, emphasizing new agents that reduce cholesterol independently of the LDL receptor.
Prioritizes on-treatment LDL-C targets in HoFH; extends evidence for early intensive LLT to improve survival.
Homozygous familial hypercholesterolemia (HoFH) is the rare form of familial hypercholesterolemia causing extremely high low-density lipoprotein cholesterol (LDL-C) levels, leading to atherosclerotic cardiovascular disease (ASCVD) in the first decades of life, if left untreated. Early diagnosis and effective lipid lowering therapy (LLT) are crucial for the prevention of early ASCVD in patients with HoFH. On-treatment LDL-C levels are the best predictor of survival. However, due to the absent or defective LDL-receptor activity, most individuals with HoFH are resistant to conventional LLT, that leads to LDL-C clearance by upregulating LDL-receptors. We are at the dawn of a new era of effective pharmacotherapies for HoFH patients, with new agents providing an LDL-receptor independent cholesterol reduction. In this context, the present review provides a summary of the currently available therapies and emerging therapeutic agents for the management of patients with HoFH, in light of recent evidence and guideline recommendations.
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Kayıkçıoğlu et al. (2022) studied this question.
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