Although the genetic variants PCSK9 c.2002A A>G (p.Ser668Gly), ABCG8 c.1212-7 T>A (intronic) and ABCG8 c.55 G>C (p.Asp19His) present in the grandmother (II:7) and the father (III:4) of the proband are responsible for hereditary hypercholesterolemia, the proband died at the age of 23 without any visible signs of hypercholesterolemia including xanthoma, xanthelasma, jaundice. This evidence concerns the gene ABCG8 and xanthoma.