Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia

Abstract

Lysosomal acid lipase deficiency (LAL-D) is underrecognized because it manifests clinically with lipid and lipoprotein values similar to those observed in heterozygous familial hypercholesterolemia (FH). Although LAL-D is uncommon, understanding the differences between the 2 diseases has significant management implications. We present a case of LAL-D that masqueraded as FH. (Level of Difficulty: Advanced.)

Keywords

• familial hypercholesterolemia
• low-density lipoprotein cholesterol
• lysosomal acid lipase deficiency
• sebelipase alfa