Universal familial hypercholesterolemia screening can effectively identify patients affected by other rare dyslipidemia such as lysosomal acid lipase deficiency (LAL-D), according to a new study published in Frontiers in Genetics.

This is important because identifying and treating patients with LAL-D early can help prevent long-term complications.

In the present study, a team of researchers led by Tinka Hovnik, PhD, from the University of Ljubljana in Slovenia analyzed 669 children who were screened as part of the Slovenian universal familial hypercholesterolemia screening. LAL-D as well as other rare dyslipidemias manifesting with hypercholesterolemia were also screened for as a secondary condition.

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The researchers found that of the 669 patients, 3 had homozygous disease-causing splicing variants in the LIPA gene causing LAL-D. All 3 children had increased transaminases in their serum accompanying the decreased LAL activity. Moreover, all 3 children had an enlarged, one of the hallmark symptoms of LAL-D.

Read more about the complications of LAL-D

Following the initiation of treatment, the levels of cholesterol and transaminases, as well as liver steatosis, improved in all 3 children.

“Universal [familial hypercholesterolemia screening] algorithms with the confirmatory genetic analysis in the pediatric population enable also rare dyslipidemia detection at an early age,” the researchers concluded. They added that high levels of transaminases such as alanine aminotransferase and aspartate transaminase are an essential clinical criterion to differentiate between LAL-D and familial hypercholesterolemia.

LAL-D is characterized by the defective breakdown of cholesteryl esters and triglycerides due to the LAL enzyme not functioning properly. This leads to the accumulation of these lipids in the liver, spleen, and other organ systems causing damage. Dietary restrictions and cholesterol-lowering drugs can help reduce disease burden, improve patients’ quality of life, and extend their lifespan.


Sustar U, Groselj U, Podkrajsek KT, et al. Early discovery of children with lysosomal acid lipase deficiency with the universal familial hypercholesterolemia screening program. Front Genet. Published online July 12, 2022. doi:10.3389/fgene.2022.936121