临床与实验心脏病学
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A Brief Review of Familial Hypercholesterolemia

Krishna Prasad Akkineni*, Mohan Prasad Akkineni, Goutam Kintada, Souvik Sardar, Maithili Charan Gattu

Familial Hypercholesterolemia (FH) is an autosomal codominant disorder characterized by elevated levels of LowDensity Lipoprotein Cholesterol (LDL-C). It manifests in both heterozygous and homozygous forms, most commonly due to loss-of-function mutations in the LDL receptor gene. Lifelong exposure to elevated LDL-C leads to premature and accelerated atherosclerosis, particularly in homozygous individuals. This review summarizes current diagnostic criteria for FH, explores the spectrum of coronary artery involvement, and outlines the expanding therapeutic landscape.