Prevalence of hepatolenticular degeneration in different countries

Abstract

Introduction. Despite modern advances in diagnostic technologies, the problem of Wilson (WD) disease prevalence remains relevant in the world; clinical and scientific interest in epidemiological studies varies in the Russian Federation and in different countries.The aim. To study the prevalence of WD in the population of the Russian Federation and foreign countries at the present stage.Materials and methods. The paper presents an analysis of the results of domestic and foreign epidemiological studies of WD published in the eLibrary, Google Scholar, PubMed, Springer, Scopus, Elsevier, Oxford Press, Clinical Case, Cochrane, Science Direct databases from January 01, 2018 to June 01, 2023 year.Results. In total, 14 epidemiological studies were analyzed. In the countries of North and South America, the prevalence of WD is from 4.1 per 100,000, up to 6.4 per 100,000 and in European countries from 1.44 per 100,000 to 9.0 per 100,000, in Asian countries – from 1.793 per 100,000 to 4.81 per 100,000.Conclusion. Results of epidemiological studies prevalence of WD depended on design and methodology: with using the method of genetic screening of the population for WD, the prevalence rates were much higher and reached 40 per 100,000 in Europe, 19.6 in Asia due to detection of early stages of disease development (asymptomatic forms).

Keywords

• hepatolenticular degeneration
• wilson–konovalov disease
• copper metabolism
• casual mutation in the atp7b gene
• asymptomatic form of the disease
• neurological disorders
• extrapyramidal manifestations
• orphan disease
• prevalence
• frequency of occurrence
• epidemiology