Although familial sitosterolemia is a rare Mendelian recessive disorder, with the affected individuals typically having homozygous loss-of-function variants in the ABCG5/G8 genes, heterozygous ABCG5 gene deficiency has been shown to be associated with increased sitosterol and LDL cholesterol levels and increased risk of coronary artery disease [33]. This evidence concerns the gene ABCG5 and sitosterolemia.