ArticleKorean circulation journal2024
Enhancing Familial Hypercholesterolemia Detection in South Korea: A Targeted Screening Approach Integrating National Program and Genetic Cascade Screening.
Article in Korean circulation journal, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The trial behind it
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Who cites it
5 citing papers in PubMed.
- Familial Hypercholesterolemia in Latin America: Unmet Needs, Barriers, and Challenges.Journal of lipid and atherosclerosis · 2026Review
- Coronary Artery Disease Prediction in Korean Patients with Familial Hypercholesterolemia: Analysis Involving Cholesterol Efflux Capacity.Yonsei medical journal · 2026Article
- Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience.Diagnostics (Basel, Switzerland) · 2025Article
- 2024 KSoLA Update on New Lipid-Lowering Agents: Inclisiran and Bempedoic Acid.Journal of lipid and atherosclerosis · 2025Review
- Advancing Familial Hypercholesterolemia Detection and Management in South Korea.Korean circulation journal · 2024Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
BACKGROUND AND
objectivesFamilial hypercholesterolemia (FH) increases the risk of premature cardiovascular disease through disrupted low-density lipoprotein cholesterol (LDL-C) metabolism. Although FH is a severe condition, it remains widely underdiagnosed, which can be attributed to barriers in genetic testing and a lack of awareness. This study aims to propose and evaluate a targeted screening program for FH in South Korea by integrating the General Health Screening Program (GHSP) with cascade genetic screening.
methodsThe study included individuals with LDL-C levels ≥190 mg/dL identified during the 2021 GHSP (primary participants). Data on demographics, lifestyle, medical history, and family history were collected through questionnaires. Targeted next-generation sequencing was used to identify pathogenic mutations in the
resultsAmong 83 individuals with severe hypercholesterolemia identified through the GHSP, 7 primary participants (8.4%) carried pathogenic mutations in the
conclusionsIntegrating community resources with FH screening can enhance the early detection and treatment of FH. By utilizing GHSP data and adding genetic screening, the proposed model provides a strategy to reduce the cardiovascular risks associated with FH, supporting its wider adoption at the national level.
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