Advancing Familial Hypercholesterolemia Detection and Management in South Korea

Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C), which significantly increases the risk of premature cardiovascular disease (CVD).Despite its severity and prevalence, FH is often underdiagnosed worldwide, including in South Korea. 1) This editorial reviews the current state of FH detection in South Korea, identifies gaps in the screening process, and advocates for the implementation of a structured national cascade screening program. THE CHALLENGE OF UNDIAGNOSED FAMILIAL HYPERCHOLESTEROLEMIA IN SOUTH KOREAFH is an autosomal dominant disorder primarily caused by mutations in the LDLR, APOB, and PCSK9 genes.2) These mutations disrupt normal cholesterol metabolism, resulting in high LDL-C levels.The global prevalence of FH is estimated to be approximately 1 in 200 to 1 in 250 individuals, 3)4) suggesting that a significant number of Koreans could be affected.However, the actual diagnosis rate remains alarmingly low due to several barriers, including the high cost of genetic testing, insufficient awareness among healthcare providers and the general population, and limited screening strategies.In South Korea, FH diagnosis typically relies on the Dutch Lipid Clinic Network and Simon Broome criteria, which assess family history, clinical features, LDL-C levels, and genetic testing.5) However, many cases go undetected due to the phenotypic variability of FH and the absence of systematic genetic screening protocols.While the national General Health Screening Program (GHSP) mandates LDL-C testing every 4 years for individuals aged 20 and older, providing an opportunity for early detection of severe hypercholesterolemia, 6) this program alone is insufficient for the comprehensive identification of FH. INTEGRATING CASCADE SCREENINGCascade screening, which involves testing relatives of diagnosed individuals, is a proven strategy for identifying cases of FH. 7) This approach is cost-effective and can significantly increase detection rates by leveraging familial connections .A study by Yang et al. 8)