Researchers from Russia presented the case of a 3-year-old girl with lysosomal acid lipase deficiency (LAL-D) who was identified through elevated cholesterol levels in her blood, as published in Meditsinskiy Sovet.

The case presented here underscores the importance of the implementation of mass screening programs to determine cholesterol levels in childhood to identify asymptomatic patients. Timely diagnosis can, in turn, ensure treatment is started in a timely manner increasing patients’ life expectancy and improving their quality of life, the authors said.

When they tested the patient genetically, the researchers found that she had a mutation in exon 8 of the LIPA gene, which encodes lysosomal acid lipase. They also found the same mutation in both parents of the patient in the heterozygous state.

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Read more about the etiology of LAL-D

Following a LAL-D diagnosis, the patient was treated with sebelipase alfa, the only enzyme replacement therapy approved for the treatment of LAL-D. She received 1 mg/kg of the treatment once every 14 days, which she tolerated well. 

“Due to the early verification of the diagnosis and timely pathogenetic therapy, the prognosis of the course of LAL-D, the duration and quality of life of the child were considered to be favourable,” the researchers wrote.

Lysosomal acid lipase plays a key role in breaking down lipids like cholesteryl esters and triglycerides. When there is a mutation in the gene that codes the protein, there is no or little functional enzyme in the body. This means that lipids accumulate inside cells and tissues throughout the body causing damage.

The symptoms of the disease include abdominal pain, vomiting, diarrhea, hepatomegaly, splenomegaly, cholestasis, malabsorption, poor growth, adrenal calcification, and coronary heart disease. If left untreated, the disease can be lethal.


Pshenichnikova II, Zakharova IN, Skorobogatova EV, Bocharova TI, Koba Yu.V. Lysosomal acid lipase deficiency – an underestimated cause of hypercholesterolemia in children. Meditsinskiy sovet = Medical Council. 2022;(1):250-255. doi:10.21518/2079-701X-2022-16-1-250-255