Mutations in the LIPA gene leading to the synthesis of a LIPA protein that retain residual activity (i.e., 3–8% of controls in blood lymphocytes) cause a less severe disorder known as cholesteryl ester storage disease (CESD) [40,41,42,43,44], characterized by the presence of hepatosteatosis (which may evolve into hepatic fibrosis and micronodular cirrhosis), splenomegaly, mixed hyperlipidemia, hypoalphalipoproteinemia, and premature atherosclerosis [41,42,43,44,45]. This evidence concerns the gene LIPA and Combined hyperlipidemia.