Management of patients with lisosomal acid lipase deficiency. Criteria for monitoring the efficiency of therapy
M.E. Bagaeva1, A.A. Gorbunova2, M.S. Zharkova3, Т.А. Ilukhina4, S.V. Mikhailova5, Т.М. Pervunina6, N.V. Rogozina7,
T.V. Strokova1,5
1 Federal Research Center for Nutrition and Biotechnology, Moscow
2 Regional Children Clinical Hospital, Omsk
3 Sechenov University, Moscow
4 Regional Children’s Clinical Hospital, Orenburg
5 Pirogov Russian National Research Medical University, Moscow
6 Almazov Research Medical Center, Saint Petersburg
7 Children’s Scientific and Clinical Center of Infectious Diseases, Federal Medical and Biological Agency, Saint Petersburg
Lysosomal acid lipase deficiency (LALD) is a progressive life-threatening metabolic disease caused by hereditary enzyme deficiency. Symptoms of the disease are due to an imbalance of lipids in the body, a cholesterol retention on the walls of blood vessels. Most often LALD is manifested by dyslipidemia, impairment of liver, spleen, gastrointestinal tract, cardiovascular system. The disease leads to death in infancy or severe lesions of the internal organs in childhood. Wrong assessment of the patient’s condition and the interpretation of examination also may result adverse outcome of the disease. With early diagnosis and timely treatment, the severity of the disease decreases and its prognosis improves. Pathogenetic treatment of this pathology consists of enzyme replacement therapy. An absence of specific symptoms and the rare frequency of pathology, as well as a poor prognosis in case of untimely start of treatment, require increased awareness of physicians about the disease, methods of its diagnosis, and the algorithm for monitoring the effectiveness of therapy. Careful monitoring of the patient’s condition, the dynamics of key parameters and the effectiveness of treatment allow for timely correction of identified abnormalities and to optimize comprehensive therapy
Key words: lysosomal acid lipase deficiency (LALD), enzyme replacement therapy, monitoring the effectiveness of treatment, sebelipase alfa.
For citation: Bagaeva M.E., Gorbunova A.A., Zharkova M.S. et al. Management of patients with lisosomal acid lipase deficiency. Criteria for monitoring the efficiency of therapy // RMJ. Medical Review. 2018. № 7(II). P. 88–91.
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7. Abel F., Arnoux J.B., Kostyleva M. et al. Benefit of Sebelipase Alfa in Children and Adults With Lysosomal Acid Lipase Deficiency Based on Analysis of Efficacy Overall and by Baseline Alanine Aminotransferase Level // J. of Hepatology. Vol. 64 (2). P.298–299.
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