,3 Interestingly, affected patients displayed fatty liver disease and marked hypercholesterolemia but did not exhibit mutations in any of the genes known to cause familial hypercholesterolemia (ie, LDLR, APOB, or PCSK9) or mutations in LIPA, encoding LAL, which is associated with cholesterol ester storage disease. This evidence concerns the gene PCSK9 and familial hypercholesterolemia.