Lysosomal acid lipase deficiency (LAL-D) is historically known as Wolman disease (in infants) and cholesteryl ester storage disease (CESD; in children and adults)1

LAL-D is an autosomal recessive lysosomal storage disorder resulting in1

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Progressive Liver Disease

Liver disease progression in LAL-D is rapid in infants and can lead to fibrosis, cirrhosis, and liver transplant within a few years.2

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Increased risk of early CV events

Dyslipidemia associated with LAL-D puts patients at risk for cardiovascular manifestations at any age.2

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ONGOING MULTIORGAN DAMAGE

LAL-D is a rare, genetic disease that causes enzyme deficiency leading to progressive and ongoing multiorgan damage.2

↑ALT + ↑LDL-C should prompt testing for LAL-D3

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LAL-D is characterized by Disrupted Cholesterol Metabolism and Intracellular Accumulation of Lipids Across Organ Systems1,4

Image adapted from Reiner Ž, et al. Atherosclerosis. 2014;235(1):21-30 and Grabowski G, et al. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill;2012.

Mutations of the LIPA gene

In LAL-D, mutations in the LIPA gene lead to deficient LAL enzyme activity, disruption of cholesterol metabolism, and intracellular accumulation of lipids across organ systems2

LAL-D May Be ASSOCIATED WITH SIGNIFICANT MORBIDITY REGARDLESS OF AGE OF PRESENTATION1,2,5,6

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Infants1

Medical Emergency

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Children1

Rapid progression to liver fibrosis and failure

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Adults1,2,5,6

Liver fibrosis/cirrhosis

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Progression of LAL-D

Abbreviations: ALT, alanine aminotransferase; CE/TG, cholesteryl ester/triglyceride; CV, cardiovascular; FC, free cholesterol; FFA, free fatty acid; HDL-C, high-density lipoprotein cholesterol; LAL-D, lysosomal acid lipase deficiency; LDL-C, low-density lipoprotein cholesterol; LDL-R low-density lipoprotein cholesterol receptor; VLDL-C, very low-density lipoprotein cholesterol.

References: 1. Reiner Ž, et al. Atherosclerosis. 2014;235(1):21-30. 2. Bernstein DL, et al. J Hepatol. 2013;58(6):1230-1243. 3. Burton BK, et al. J Pediatr Gastroenterol Nutr. 2015;61(6):619-625. 4. Grabowski G, et al. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2012. 5. Elleder M, et al. J Hepatol. 2000;32(3):528-534. 6. Vom Dahl S, et al. J Hepatol. 1999;31(4):741-746.

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