Clinical characteristics and epidemiology of lysosomal storage diseases

Abstract

The main clinical characteristics of a large group of 30 lysosomal storage diseases (LSD), including mucopolysaccharidoses (MPS), sphingolipidoses (SLD), and glycoproteinoses (ILD), are summarized. The purpose of the work is to identify general and particular patterns in the manifestation of LSD. For all LSD, a syndromic nature of the lesion is observed. Almost half of the studied diseases are characterized by a hurler-like phenotype (GPF). The most common clinical manifestations of LSD are neurological anomalies, ophthalmopathies, hearing impairment, hepato- and splenomegaly, hernias, skeletal dysplasia, stiffness and joint contractures. Patients die most often from cardiovascular insufficiency and recurrent infections. Hematological, cutaneous, and nephrological manifestations are observed only in some LSD. For many LSD (63%), clinical polymorphism is typical both in the onset and in the existence of allelic disease series. In almost a third of cases (27%), genetic heterogeneity is noted, so, a similar nature of the course of diseases caused by mutations in different genes. LSD - are rare diseases with frequencies ranging from 1:40,000 to 1:500,000 newborns. Some more rare LSD have also been described. In this case, the total frequency of LSD is 1: 7-8 thousand newborns. Some LSD are predominantly distributed in certain ethnic groups, the classic example of which are Jews of Eastern European origin.