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10:56
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Clinical and Molecular Genetic Risk Factors for Severe Familial Hypercholesterolemia
Eun Hoo Rho1,2, Yura Kang3, Minjae Yoon1,4
1Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
Journal of Lipid and Atherosclerosis
|May 29, 2026
Summary
Severe familial hypercholesterolemia (FH) in Korean patients presents with distinct clinical features like older age and more risk factors. Genetic variants did not significantly differ between severe and non-severe FH groups.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Public Health
Background:
- Familial hypercholesterolemia (FH) is an inherited condition causing high cholesterol and increased atherosclerotic cardiovascular disease (ASCVD) risk.
- The International Atherosclerosis Society (IAS) defined "severe FH" to identify individuals at highest risk.
- Understanding risk factors in diverse populations like Koreans is crucial for effective management.
Purpose of the Study:
- To investigate clinical and molecular genetic risk factors associated with severe FH in Korean patients.
- To compare characteristics between severe and non-severe FH groups within the Korean population.
Main Methods:
- Analysis of patients from the Korean FH Registry.
- Definition of severe FH based on IAS criteria (ASCVD, subclinical atherosclerosis, or very high LDL-C with risk factors).
- Whole-exome or targeted exome sequencing for FH-associated genes.
Main Results:
- 58% of 296 patients met severe FH criteria.
- Severe FH patients were older, more often male, and had higher rates of smoking, hypertension, and diabetes.
- Higher triglyceride, lipoprotein(a), and hs-CRP levels were observed in severe FH.
- Pathogenic variant frequency was numerically higher in severe FH (38.3%) but not statistically significant (30.7%, p=0.170).
Conclusions:
- Korean patients with severe FH show distinct clinical profiles, including advanced age and more cardiometabolic risk factors.
- No significant difference in the presence or type of pathogenic FH gene variants was found between severe and non-severe FH groups.
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