Monogenic familial hypercholesterolemia is an autosomal dominant genetic condition characterized by elevated LDL-C levels from childhood; firstly, the majority of familial hypercholesterolemia (FH) mutations were found in the genes encoding for the low-density lipoprotein receptor (LDLR) and for apolipoprotein B. However, in 2003 the first FH related genetic variant was found in the gene encoding for proprotein convertase subtilisin/kexin type-9 (PCSK9) and an increasing attention has been drawn to the role of PCSK9 since then [3]. This evidence concerns the gene LDLR and familial hypercholesterolemia.