Familial hypercholesterolemia (FH) is a prevalent inherited lipid disorder marked by elevated low-density lipoprotein cholesterol (LDL-C) from early life, significantly increasing the risk of premature atherosclerotic cardiovascular disease (ASCVD). Recent advances in pharmacotherapy have transformed treatment possibilities, particularly for patients unresponsive to traditional therapies. This review synthesizes current evidence on emerging lipid-lowering agents, including PCSK9 monoclonal antibodies (e.g., evolocumab), small interfering RNA-based therapies (e.g., inclisiran), and angiopoietin-like protein 3 (ANGPTL3) inhibitors (e.g., evinacumab). Clinical trials demonstrate that these agents achieve substantial LDL-C reductions – often exceeding 40% – with favorable safety profiles, even in homozygous FH patients with null LDL receptor activity. Additionally, advances in genomic research have enabled more precise classification of pathogenic variants in genes such as APOB and ANGPTL3, improving diagnostic accuracy and guiding targeted therapy. The integration of these pharmacologic and genetic strategies represents a significant shift toward individualized management of FH. Further long-term and population-based studies are needed to validate these approaches and ensure equitable access across healthcare settings.
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