Abstract
Background and Aims: Homozygous Familial Hypercholesterolemia (HoFH) is a rare inherited disorder, with a prevalence estimated to be 1/160.000 – 1/320.000. True HoFH is caused by the same mutation in both alleles of LDLR, PCSK9 or APOB genes, however compound heterozygotes (HeFH) with different mutations in one gene and, in some cases, also double heterozygotes with mutations in two causative genes, show a similar severe phenotype.
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