Lysosomal acid lipase deficiency — underestimated cause of dislipidemia. what’s new?

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LAL-D is a lysosomal storage disease due to a mutation of a gene encoding an acid lipase, a lysosomal enzyme that hydrolyzes cholesterol esters and triglycerides in hepatocytes. The main clinical manifestation of LAL-D is progressive liver damage with the development of hepatomegaly, an increase in transaminases and / or microvesicular or mixed steatosis, due to the accumulation of cholesterol esters and triglycerides (TG) in hepatocytes and Kupfer cells. LAL-D is a life-threatening genetic disease associated with significant morbidity with high risk of premature death. Early diagnosis of LAL-D is important for pathogenetic therapy. Pediatricians, general practitioners and general practitioners, lipidologists, gastroenterologists and hepatologists are most likely to encounter LAL-D in clinical practice and should know the diseases and its cardiovascular, hepatic and metabolic complications. The limited effect of statins as a warning to the development and progression of the atherosclerotic process in patients with LAL-D indicates the need for alternative therapies associated with the disease. Sebelipaza alpha is a specific pathogenetic therapeutic approach that can change the natural course of the disease. Sebelipase alpha is a recombinant human LAL that catalyzes the hydrolysis of cholesterol esters and triglycerides, preventing their accumulation in the lysosomes of cells and restoring normal organ function.This article is a review of a new scientific and practical literature and recent research in this area, and reveals the clinical significance of LAL-D in the modern domestic healthcare system.

Keywords:

dyslipidemia

lysosmal acidic lipase deficiency

cholesterol

lipidology

Wolman’s disease

Authors:

Oinotkinova O.Sh.

Federal state budgetary institution «A.A.Vishnevsky Third Central Military Hospital», Ministry of Defense of the Russian Federation, Moscow region, Krasnogorsk, Russia

Nikonov E.L.

FGBU "Poliklinika #1" Upravleniia delami Prezidenta RF

Scopus AuthorID: 57216680476
ResearcherID: T-9090-2017
ORCID: 0000-0003-3021-6534

Baranov A.P.

Lomonosov Moscow Srate University, fundamental medicine faculty, Moscow, Russia;
N.I. Pirogov Russian National Research Medical University, Moscow, Russia

Krukov E.V.

Main Military Clinical Hospital named after N.N. Burdenko, Moscow, Russia

Doroshko M.A.

N.I. Pirogov Russian National Research Medical University, Moscow, Russia

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