Familial Hypercholesterolemia Genetic Analysis

A 50 y/o postmenopausal female was presented to the Lipid Clinic for the finding of very high LDL-C cholesterol (Table 1) and a family history of hypercholesterolemia and treatment with lipid-lowering agents. The diagnosis of probable Familial Hypercholesterolemia was made based on a Dutch Lipid Clinical Network (DLCN) (Ref) score of 6. Next-generation sequencing (NGS) analysis was performed using the Illumina MiSeq DX platform (Illumina, San Diego, CA, USA) to sequence genes associated with familial hypercholesterolemia (APOB, APOE, LDLR, LDLRAP1, PCSK9, ABCG5, ABCG8, CYP27A1, LIPA, MYLIP) [22 (link)]. Genetic analysis was also performed on five family members (son, brother and three nephews). Lipid profiles of proband and family members are reported in Table 1.