Steatotic Liver Disease Predicts Lower Likelihood of LDLR Gene Mutations in Young Korean Patients with Suspected Familial Hypercholesterolemia.

Source: PubMed, NCBI / U.S. National Library of Medicine

Familial hypercholesterolemia (FH) is underdiagnosed in young adults, and universal genetic testing is costly. We evaluated whether steatotic liver disease (SLD) could predict low-density lipoprotein receptor (LDLR) mutations in suspected FH. We retrospectively analyzed 111 Korean military personnel aged 19-30 years who underwent LDLR sequencing and SLD assessment using controlled attenuation parameter (CAP) and hepatic steatosis index. Pathogenic LDLR variants were identified in 23.4% of participants. Compared with non-carriers, carriers had lower CAP values (245.2 dB/m vs. 273.9 dB/m,=0.085) and a significantly lower prevalence of SLD (52.9% vs. 82.0%,=0.025). Multivariable logistic regression confirmed SLD was independently associated with lower odds of variant carriage (adjusted odds ratio, 0.11; 95% confidence interval, 0.02 to 0.56;=0.009). Clustering analysis showed the highest variant prevalence in lean, non-SLD individuals. SLD was inversely associated with genetically confirmed FH. Incorporating SLD assessment may help prioritize genetic testing in populations with a high prevalence of SLD or limited access to sequencing resources.