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. The gene discussed is ABCG8; the disease is familial hypercholesterolemia.