Do you see this patient frequently?

  • Enlarged liver and/or spleen
  • Elevated cholesterol and triglycerides
  • Raised liver enzymes
  • Poor growth or persistent fatigue

Are young patients with liver enlargement and abnormal lipid profiles appearing in your clinic?

Do you know how to help uncover Lysosomal Acid Lipase Deficiency?

Adapted from reference: 1

LAL-D should be suspected in the presence of liver and/OR lipid abnormalities without a clear CAUSE1

lal-d-criteria

LIPA sequencing is recommended to support a diagnosis of LAL-D when a positive LAL enzyme test has been obtained1

Adapted from Camarena C, et al. 20171 and Lipiński P, et al. 2018.2
*NAFLD is now known as metabolic dysfunction-associated steatotic liver disease (MASLD).
†LAL activity can also be assessed in leukocytes, cultured fibroblasts, or liver tissue.1 ALT, alanine aminotransferase; DBS, dried blood spot; FCH, familial combined hypercholesterolaemia; HDL-c, high-density lipoprotein-cholesterol; HeFH, hereditary familial hypercholesterolaemia; LAL, lysosomal acid lipase; LAL-D, lysosomal acid lipase deficiency; LDL-c, low-density lipoprotein-cholesterol; LIPA, lipase A; NAFLD, non-alcoholic fatty liver disease; NASH, non-alcoholic steatohepatitis; NV, normal value; TG, triglyceride.

References:

  • 1. Camarena C, et al. Med Clin (Barc). 2017;148(8):429.e1–429.e10; 2. Lipiński P, et al. J Pediatr Gastroenterol Nutr. 2018;67(4):452–457; 3. Kohli R, et al. Mol Genet Metab. 2020;129:59–66; 4. Lukacs Z, et al. Clin Chim Acta. 2017;471:201–205.

An accurate diagnosis of LAL-D is critical to inform patient management decisions1

Previous treatment approaches to managing patients with LAL-D have focused on:

HSCT1
Low-fat diets3
Liver transplantation1,4
LAL-D is an inborn error of lipid metabolism. These approaches do not address the fundamental pathophysiology or systemic nature of LAL-D5

*And other lipid-lowering medications.
HSCT, haemopoietic stem cell transplant; LAL-D, lysosomal acid lipase deficiency.

References:

  • Reiner Ž, et al. Atherosclerosis. 2014;235(1):21–30; 2. Rader DJ. N Engl J Med. 2015;373(11):1071–1073; 3. Leone L, et al. J Pediatr. 1995;127(3):509–510; 4. Kohli R, et al. Mol Genet Metab. 2020;129:59–66;
  • Strebinger G, et al. Hepat Med. 2019;11:79–88.

Adapted from references: 1-3

An accurate diagnosis of LAL-D is critical to inform patient management decisions1

Possible interdisciplinary team members

Hepatologist or gastroenterologist
Cardiologist
Nutritionist
Geneticist
Lipidologist

Adapted from references: 1-3

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References:

  • Vijay S, et al. Orphanet J Rare Dis. 2021;16:13; 2. Baronio F, et al. Mol Genet Metab Rep. 2022;30:100833; 3. Kohli R, et al. Mol Genet Metab. 2020;129:59–66.