LIPA and Hypercholesterolemia: In a study by J. Cebolla et al. (2019), among 24 patients with primary hypercholesterolemia or deficiency in lysosomal acid lipase, but without pathogenic mutations in LDLR, APOB, PCSK9, or LDLRAP1, there were patients with two known and one novel substitution in the LIPA gene.