Lysosomal acid lipase deficiency in the practice of an infectious disease doctor: clinical cases

V.A. Greshnyakova¹, L.G. Goryacheva^1,2, N.Yu. Makarevskaya³ 

¹Children’s Scientific and Clinical Center for Infectious Diseases of the Federal Medical and Biological Agency, St. Petersburg

²St. Petersburg State Pediatric Medical University, St. Petersburg

³Krasnoyarsk Regional Clinical Center for Maternal and Child Welfare, Krasnoyarsk 

The article presents clinical cases of patients with lysosomal acid lipase deficiency (LALD), which occurred under the guise of herpetic pathology. The first case demonstrates a severe infantile-onset LALD diagnosed in a child with cytomegalovirus (CMV) infection. In the second case, a child with congenital CMV infection with liver damage who did not respond to standard therapy was diagnosed with concurrent orphan pathology — LALD in the form of cholesteryl ester storage disease (in children and adults). The prescription of pathogenetic enzyme replacement therapy contributed to the improvement of well-being, weight gain, reduced liver size, almost complete normalization of hepatic transaminase level. The third case shows a long-term diagnosis of LALD during persistent Epstein — Barr virus and CMV, distracting from the search for the source of liver damage. In all cases, the first specialist who encountered the disease manifestations, while the infectious disease specialist suspected the presence of hereditary pathology. The clinical cases described in the article emphasize the importance of raising the level of awareness concerning infectious diseases. The necessity of patient management with atypical course of infectious liver damage (especially in combination with atherogenic dyslipidemia) is clearly demonstrated for diagnosing the LALD.

Keywords: lysosomal acid lipase deficiency, orphan diseases, hepatitis, cytomegalovirus, dyslipidemia, cholesterol, triglycerides, hyperfermentemia.

For citation: Greshnyakova V.A., Goryacheva L.G., Makarevskaya N.Yu. Lysosomal acid lipase deficiency in the practice of an infectious disease doctor: clinical cases. RMJ. 2022;5:40–45.