Lysosomal acid lipase deficiency — orphan disease in the practice of pediatricians

T.A. Bokova^1,2, E.V. Chibrina³

¹M.F. Vladimirskiy Moscow Regional Research and Clinical Institute, Moscow

²Pirogov Russian National Research Medical University, Moscow

³Children’s Clinical Multidisciplinary Center of the Moscow Region, Mytishchi

This article presents a family clinical case of a rare lysosomal storage disease in autosomal recessive manner – lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene encoding lysosomal acid lipase (LCL), an enzyme responsible for the hydrolysis of cholesterol esters and triglycerides that are delivered to lysosomes. As a result of a decrease or complete absence of LCL activity, cholesterol esters and triglycerides are not hydrolyzed and accumulate in the lysosomes of the body’s cells, including macrophages, endothelial cells, and hepatocytes. This can lead to accelerated development of atherosclerosis, liver failure, and untimely death. LALD has an extremely variable clinical picture and can occur without the presence of obvious clinical signs until the patient goes to the doctor with another pathology or as part of a routine medical examination. For instance, in our patients, the disease was  suspected upon admitting to the hospital with a diagnosis of acute obstructive bronchitis, when elevated liver enzymes, dyslipidemia and hepatomegaly were detected in both cases. Since LALD can be fatal even in patients with a long-term stable condition, it is important to identify patients with disease at an early stage and treat them appropriately with enzyme replacement therapy. LALD should be suspected in patients with dyslipidemia (low level of high-density lipoprotein cholesterol and high level of low-density lipoprotein cholesterol) in combination with elevated liver enzymes or hepatomegaly.

Keywords: lysosomal acid lipase deficiency, lysosomal acid lipase, orphan disease, storage disease, Wolman disease, cholesterol ester storage disease.

For citation: Bokova T.A., Chibrina E.V. Lysosomal acid lipase deficiency — orphan disease in the practice of pediatricians. RMJ. 2021;4:31–34.