Progressive liver disease: а deficiency of lysosomal acid lipase (clinical cases)
Ageeva N.V.¹, Agapova I.A.¹, Amelina E.L.², Gundobina O.S.³, Zharkova M.S.⁴, Kamenets E.A.^5, Mikhaylova S.V.⁶, Pechatnikova N.L^.7, Sosnovsky A.E.<sup>1

1</sup> Penza Regional Pediatric Clinical Hospital named after N. F. Filatov
² City Clinical Hospital named after D. D. Pletnyov of Moscow Health Department
³ National Medical Research Center for Children’s Health, Moscow
⁴ Sechenov University, Moscow
⁵ Research Centre of Medical Genetics of the Russian Academy of Medical Sciences, Moscow
⁶ Pirogov Russian National Research Medical University, Moscow
⁷ Morozovskaya Children’s City Clinial Hospital of Moscow Health Department

Lysosomal Acid Lipase Deficiency (LALD) is a progressive hereditary disease characterized by impaired metabolism of lipids and associated with high mortality and a risk of terminal damage to various organs, including a liver, spleen, kidneys, and heart vessels. Depending on age of manifestation of the disease, two clinical forms of the LALD are distinguished: an infantile form, previously known as Wolman disease, and an ester storage disease, it is characteristic for children older than 1 year of age and adults. Clinical manifestations of the disease are diverse regardless of the form of LALD, which is the reason for delay in establishing a correct diagnosis, early disability and death of patients.
Two clinical observations of the LALD are presented in the article: a patient with the ester storage disease and a patient with the infantile form of LALD. Both cases demonstrate the most negative prognosis of the disease and importance of timely diagnosis of the LALD.
Presence of diagnostic criteria for the LALD allows suspecting the disease in time and conduct a test for determination of lysosomal acid lipase activity by method of dry spots to confirm the diagnosis. This is necessary for early initiation of adequate therapy.

Key words: lysosomal acid lipase, Wolman disease, cholesterol ester storage disease, sebelipase alfa.
For citation: Ageeva N.V., Agapova I.A., Amelina E.L. et al. Progressive liver disease: а deficiency of lysosomal acid lipase (clinical cases) // RMJ. 2018. № 5(II). P. 96–103.