Characteristics and Vascular Complications of Familial Hypercholesterolemia in Korea

Area of Science:

• Cardiovascular Medicine
• Genetics
• Public Health

Background:

• Familial hypercholesterolemia (FH) is a global health concern with significant genetic and phenotypic variability.
• Understanding FH in specific populations, like Korea, is crucial for tailored clinical strategies.
• Previous studies indicate Korean FH patients exhibit lower cholesterol levels and xanthoma prevalence compared to international cohorts.

Purpose of the Study:

• To analyze the clinical and genetic characteristics of Korean patients with Familial hypercholesterolemia.
• To identify predictive values for low-density lipoprotein cholesterol (LDL-C) in relation to pathogenic mutations.
• To assess the prevalence of cardiovascular complications and treatment outcomes in this population.

Main Methods:

• Retrospective analysis of clinical and genetic data from Korean FH patients.
• Genetic sequencing to identify mutations in genes such as LDLR, APOB, and PCSK9.
• Evaluation of cardiovascular comorbidities, including coronary artery disease and aortic valve changes.
• Assessment of lipid-lowering therapy effectiveness and achievement of LDL-C targets.

Main Results:

• A predictive LDL-C threshold of 225 mg/dL was suggested for identifying pathogenic mutations.
• Mutations in LDLR, APOB, and PCSK9 were identified in approximately one-third of probands, with varied gene locations.
• Coronary artery disease affected 28% of Korean FH patients, associated with traditional cardiovascular risk factors.
• Aortic valve changes were also common.
• Lipid-lowering therapy achieved target LDL-C levels in only 21%-44% of patients.

Conclusions:

• Korean FH patients display distinct characteristics, including lower cholesterol levels and specific mutation patterns.
• Current lipid-lowering therapies show suboptimal efficacy in reaching LDL-C goals.
• Expanded patient registries and further analysis are essential for enhancing the diagnosis and management of FH in Korea.