Key result
Severe FH links to cardiometabolic risk factors but lacks distinct pathogenic variants versus non-severe FH.
Why the study?
Familial hypercholesterolemia is associated with heterogeneous ASCVD risk, and the concept of severe FH was introduced to improve identification of highest-risk individuals.
Do clinical and molecular genetic risk factors differ between severe and non-severe familial hypercholesterolemia in Korean patients?
Observational
Do clinical and molecular genetic risk factors differ between severe and non-severe familial hypercholesterolemia in Korean patients?
p-value: p==0.170
In Korean patients, severe familial hypercholesterolemia is associated with traditional cardiometabolic risk factors and demographics rather than distinct FH-associated genetic variants.
Severe FH phenotype tied to age and cardiometabolic factors, not genotype; leaves open refined genetic-phenotypic risk models.
Objective: Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with a markedly elevated, yet heterogeneous, risk of atherosclerotic cardiovascular disease (ASCVD). To improve identification of highest-risk individuals, the International Atherosclerosis Society (IAS) introduced the concept of "severe FH." This study investigated clinical and molecular genetic risk factors associated with severe FH in Korean patients. Methods: Patients enrolled in the Korean FH Registry were analyzed. Severe FH was defined according to IAS criteria, including the presence of ASCVD, subclinical atherosclerosis detected by imaging, or markedly elevated low-density lipoprotein cholesterol levels together with cardiovascular risk factors. FH-associated genes were analyzed using whole-exome sequencing or targeted exome sequencing. Clinical and genetic characteristics were compared between patients with severe and non-severe FH. Results: =0.170). Conclusion: Korean patients with severe FH exhibited distinct clinical characteristics, including older age, male predominance, and a greater burden of cardiometabolic risk factors. However, the presence and type of pathogenic or likely pathogenic variants in FH-associated genes did not differ significantly between severe and non-severe FH groups.
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Rho et al. (2026) conducted an observational in Familial hypercholesterolemia. Severe familial hypercholesterolemia vs. Non-severe familial hypercholesterolemia was evaluated on Presence and type of pathogenic or likely pathogenic variants in FH-associated genes (p==0.170). Severe familial hypercholesterolemia was associated with older age and cardiometabolic risk factors, but pathogenic variants in FH-associated genes did not differ from non-severe FH (P=0.170).
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