Identification of patients with lysosomal acid lipase deficiency (LAL-D) is critical for the implementation of appropriate genetic counseling in families, according to findings presented at the 91st European Atherosclerosis Society (EAS) Congress held in Mannheim, Germany, and published in the journal Atherosclerosis.

It has been well recognized that individuals with LAL-D are often misdiagnosed as having familial hypercholesterolemia. The researcher of the current analysis sought to establish a search engine to assist in the appropriate selection of patients with LAL-D in a tertiary care hospital located in Oman.

Patients with LAL-D frequently present with excessive fat accumulation in hepatocytes, which can be associated with hepatomegaly, along with progressive fibrosis and liver cirrhosis. Individuals with LAL-D and hepatic complications typically do not exhibit a response to the use of lipid-lowering agents. The appropriate identification of these patients is key to their proper clinical management.

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Via utilization of the hospital information system, all patients with low-density lipoprotein cholesterol of 5.5 mM or more and elevated liver enzymes were identified. Individuals with similar tribe/clan names were then grouped. Patients underwent molecular sequencing of LIPA genes and blood blot enzyme assays of lysosomal acid lipase.

Read more about approved therapies for LAL-D        

Results of the study showed that the electronic search identified a pattern of high low-density lipoprotein cholesterol and alanine aminotransferase among a cohort of individuals who shared a similar tribe/clan name. Based on a chart review, it was shown that these patients were all related to a single, large, consanguineous family with a history of fatty liver, fibrosis, and myocardial infarction in some of the members.

According to DNA sequencing, a novel mutation in the LIPA gene was identified. The use of enzyme-linked assays confirmed lower enzyme activity among homozygous cases.

“It is important to identify cases of LAL-D for proper genetic counseling for families,” the author indicated. “The use of a simple search engine in [the] hospital information system provides an easy first step for filtering patients in cardiology or lipid clinics,” he concluded.


Al Zadjali F. Identification cohort of lysosomal acid lipase deficiency patients through information system. Atherosclerosis. Published online August 29, 2023. doi:10.1016/j.atherosclerosis.2023.06.394