Lysosomal acid lipase deficiency
Strokova Т.V.^1,2, Bagaeva M.E.^1,2, Matinyan I.A.<sup>1

1</sup> Federal Research Center for Nutrition, Biotechnology and Food Safety, Moscow
² Russian National Research Medical University named after N.I. Pirogov, Moscow

Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive disease associated with the presence of mutations of the LIPA gene. The article presents modern information on the disease associated with a deficiency of lysosomal acid lipase, describes the most common clinical and laboratory signs of the disease, the features of enzyme-replacement therapy by sebelipase  alpha, outcomes and prognosis of the disease in children. There are two forms of the disease: Wolman's disease and the accumulation of cholesterol esters. The age of the onset of the disease and the rate of its progression are variable. The manifestation of Wolman's disease is observed in young infants and is characterized by a rapid rate of progression, and has an unfavorable outcome during the first year of life. The debut of the accumulation of cholesterol ester is detected in older children and adults, progresses more slowly and is characterized by a less severe clinical course. The accumulation of esters is manifested by hepatosplenomegaly, cytolysis syndrome, hypercholesterolemia, dyslipidemia, microvesicular steatosis in the biopsy material, the formation of fibrosis and cirrhosis in case of the absence of therapy. The current possibilities of prenatal diagnosis are discussed, a clinical example of the accumulation of cholesterol ester and the effectiveness of therapy in children is given.

Key words: lysosomal acid lipase deficiency, Wolman's disease, hypercholesterolemia, dyslipidemia, cytolysis syndrome, children, hepatomegaly.
For citation: Strokova Т.V., Bagaeva M.E., Matinyan I.A. Lysosomal acid lipase deficiency // RMJ. 2017. № 19. P. 1346–1351.