Abstract
Aim: Familial hypercholesterolemia (FH) is an autosomal-dominant disorder caused by mutations in 1 of 3 genes. A definitive diagnosis of FH can be made by the demonstration of a pathogenic mutation. The prevalence of heterozygous FH is 0.2%–0.5%, which is now considered to be underestimated. In the patients who are mutation negative, the clinical phenotype can be associated with an accumulation of common small-effect LDL cholesterol (LDL-C)-raising alleles. The aims of the study were to investigate the genetic causes of high LDL-C levels in patients with familial hypercholesterolemia identified in epidemiological study.
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