Two unrelated probands turned out to be carriersof compound heterozygous variants of the LDLR gene,whereas the clinical course of the disease in these patientscorresponded to the homozygous type of familial hypercholesterolemia.In the first case, in a 28-year-old female patientwith a diagnosis of definite FH, we detected rare variantsNM_000527.5:c.796G>A, NP_000518.1:p.Asp266Asn, andNM_000527.5:c.1054T>A, NP_000518.1:p.Cys352Ser inexons 5 and 7 of LDLR (see Table 1). This evidence concerns the gene LDLR and familial hypercholesterolemia.