Abstract
Familial hypercholesterolemia (FH) is presently an important health issue worldwide. This condition shows phenotypic and genetic variations among affected people, and clinical and genetic data on FH are critical for effective diagnosis and management. Korean FH patients have relatively low levels of cholesterol and prevalence of xanthoma than patients from other countries, as determined by previous studies. The best predictive value of low-density lipoprotein cholesterol (LDL-C) for pathogenic mutations is suggested as 225 mg/dL. Many known and novel mutations on LDLR and some on APOB or PCSK9 have been identified in one-third of clinically diagnosed probands, and their locations on genes varied. Coronary artery disease was reported in 28% Korean FH patients, and traditional cardiovascular risk factors were associated with this complication. Aortic valve changes were also prevalent. However, the achievement rate of LDL-C target using lipid-lowering therapy is not satisfactory and is only 21%–44%. A further expanded registry and additional analysis may provide a more useful clinical tool for the diagnosis and treatment of Korean FH patients.
