The Incidence of Lysosomal Acid Lipase Deficiency in the Russian Population

Abstract

Lysosomal acid lipase deficiency is a rare hereditary progressive disease of lipid metabolism leading to the development of atherosclerosis, hepatosplenomegaly, liver cirrhosis, malabsorption, and other symptoms. In the absence of specific treatment, the prognosis for the patient is unfavourable, so timely diagnosis of the disease is extremely important. The incidence of lysosomal acid lipase deficiency in the Russian Federation is unknown. Given its rarity, there is a high probability of hypodiagnosis. In this regard, the presented results of the study of this disease prevalence are of particular relevance.

Keywords

• lysosomal acid lipase deficiency
• accumulation diseases
• mutations
• incidence
• children