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