Identification Of A Rare Variants In Abcg5/Abcg8 Genes In Patients With Clinical Suspect Of Familial Hyperchoelsterolemia

Background and Aims: Familial hypercholesterolemia (FH) is a common genetic disease characterized by hyper-LDL cholesterolemia and premature cardiovascular disease. Rare variants in ABCG5/ABCG8 genes could contribute to mimicking FH phenotype (FH phenocopies). We aimed to evaluate the presence of variants in ABCG5/ABCG8 genes in patients with a clinical suspect of FH without variants in FH-causative genes.