Genetic variants in ABCG5/G8 may result in sitosterolemia, which is an autosomal recessive disease, while the variants detected in our study are non-compound heterozygous: one patient had a frameshift insertion in ABCG5 (probable FH), and three patients had the same SNP in ABCG8 (two with probable and one with possible FH). The gene discussed is ABCG5; the disease is sitosterolemia.