Lysosomal acid lipase deficiency: analysis of enzyme replacement therapy
DOI: 10.32364/2618-8430-2022-5-3-270-276
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.
About the authors:
Natalia A. Polyanskaya — C. Sc. (Med.), Associate Professor of the Department of Hospital Pediatrics with the course of Continuing Professional Education, Omsk State Medical University; 12, Lenin str., Omsk, 644099, Russian Federation; ORCID iD 0000-0002-8555-8761.
Alevtina A. Gorbunova — doctor of the Department of Gastroenterology, Regional Children’s Clinical Hospital; 77, Kuibyshev str., Omsk, 644001, Russian Federation.
Elena B. Pavlinova — Dr. Sc. (Med.), Associate Professor, Head of the Department of Hospital Pediatrics with the course of Continuing Professional Education, Omsk State Medical University; 12, Lenin str., Omsk, 644099, Russian Federation; ORCID iD 0000-0002-6444-1871.
Olga A. Savchenko — C. Sc. (Med.), Associate Professor of the Department of Hospital Pediatrics with the course of Continuing Professional Education, Omsk State Medical University; 12, Lenin str., Omsk, 644099, Russian Federation; ORCID iD 0000-0003-2035-5653.
Irina A. Kirshina — C. Sc. (Med.), Assistant Professor of the Department of Hospital Pediatrics with the course of Continuing Professional Education, Omsk State Medical University; 12, Lenin str., Omsk, 644099, Russian Federation; ORCID iD 0000-0002-3081-4676.
Madlena E. Bagaeva — C. Sc. (Med.), Senior Researcher of the Department of Pediatric Gastroenterology, Hepatology and Nutrition Therapy, Federal Research Center for Nutrition and Biotechnology; 2/14, Ust'inskiy pass., Moscow, 109240, Russian Federation; Assistant Professor of the Department of Gastroenterology and Nutrition Science of the Faculty of Continuous Professional Education, Pirogov Russian National Research Medical University; 1, Ostrovityanov str., Moscow, 117437, Russian Federation; ORCID iD 0000-0002-1752-6901.
Tatiana V. Strokova — Dr. Sc. (Med.), Professor of the Russian Academy of Sciences, Head of the Department of Pediatric Gastroenterology, Hepatology and Nutrition Therapy, Federal Research Center for Nutrition and Biotechnology; 2/14, Ust'inskiy pass., Moscow, 109240, Russian Federation; Head of the Department of Gastroenterology and Nutrition Science of the Faculty of Continuous Professional Education, Pirogov Russian National Research Medical University; 1, Ostrovityanov str., Moscow, 117437, Russian Federation; ORCID iD 0000-0002-0762-0873.
Contact information: Natalia A. Polyanskaya, e-mail: polyansknatalya@yandex.ru.
Financial Disclosure: no authors have a financial or property interest in any material or method mentioned.
There is no conflict of interests.
Received 15.06.2022.
Revised 08.07.2022.
Accepted 02.08.2022.
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