It has been reported that nearly 15% of patients with autosomal dominant FH are negative for a mutation in any of the three identified genes described above (i.e. LDLR, APOB, PCSK) indicating the probability of having other genes with a causative or contributory role in the pathogenesis of hypercholesterolemia [10]. This evidence concerns the gene LDLR and familial hypercholesterolemia.