Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy

Abstract

N.A. Polyanskaya1, A.A. Gorbunova2, E.B. Pavlinova1, O.A. Savchenko1, I.A. Kirshina1, M.E. Bagaeva3,4, T.V. Strokova3,4 1Omsk State Medical University, Omsk, Russian Federation 2Regional Children’s Clinical Hospital, Omsk, Russian Federation 3Federal Research Center for Nutrition and Biotechnology, Moscow, Russian Federation 4Pirogov Russian National Research Medical University, Moscow, Russian Federation Aim: to present the treatment results and the trend of clinical and biochemical parameters in two patients with lysosomal acid lipase deficiency (LALD) during enzyme replacement therapy (ERT). The reasons for the in-depth study of patients were the periorbital "shadows of intoxication" (hyperpigmentation), an increase in the liver and spleen sizes, revealed during medical examination, as well as the long-term subfebrility. Nonspecific clinical disease manifestations required an extended diagnostic search. LALD diagnosis, confirmed by the molecular genetic study results, was made at the age of 7 and 12 years. In both clinical cases, the prescription of pathogenetically based therapy provided positive trend in the form of improvement in physical development, reduction in the liver and spleen sizes, and persistent relief of hepatic cytolysis. The article considers the difficulties that a medical practitioner may face when monitoring patients with LALD receiving pathogenet ic therapy. Special attention is paid to the possible causes of insufficiently effective reduction of cholesterol levels during ERT. The article also notes the importance of timely diagnosis of LALD, characterized by continuous pathological storage of cholesteryl esters in lysosomes, which is associated with the risk of irreversible lesions of organs and tissues. Keywords: children, Lysosomal acid lipase deficiency, cholesteryl ester storage disease, dyslipidemia, cytolysis, sebelipase alfa, enzyme replacement therapy. For citation: Polyanskaya N.A., Gorbunova A.A., Pavlinova E.B. et al. Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy. Russian Journal of Woman and Child Health. 2022;5(3):270–276 (in Russ.). DOI: 10.32364/2618-8430-2022-5-3-270-276.