Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia

Sohum Sheth; Peter P Toth; Seth J Baum; Monica Aggarwal

doi:10.1016/j.jaccas.2023.102023

Distinguishing Lysosomal Acid Lipase Deficiency From Familial Hypercholesterolemia

JACC Case Rep. 2023 Sep 16:24:102023. doi: 10.1016/j.jaccas.2023.102023. eCollection 2023 Oct 18.

Authors

Sohum Sheth¹, Peter P Toth^{2

3}, Seth J Baum^{4

5}, Monica Aggarwal⁶

Affiliations

¹ University of Florida College of Medicine, Gainesville, Florida, USA.
² CGH Medical Center, Sterling, Illinois, USA.
³ Ciccarone Center for the Prevention of Cardiovascular Disease, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
⁴ Flourish Research, Boca Raton, Florida, USA.
⁵ Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, Florida, USA.
⁶ Division of Cardiology, University of Florida College of Medicine, Gainesville, Florida, USA.

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.

Publication types

Case Reports