Analysis of the number of registered patients whis rare diseases in some regions of Ukraine

Rare (orphan) diseases (RD) are a global priority for health systems. In Europe, including Ukraine, the disease is considered rare with a prevalence of 1 patient per 2,000 population. To date, by the orphanet data, 6,172 unique rare diseases have been discovered. An important issue today is the understanding and analysis of data on the prevalence of RD in Ukraine, which will effectively plan the need for therapy and predict its cost. Aim of the investigation was to analyze the available data on the of the registered cases of orphan diseases among children and adults in all Ukraine’s regions and determining the share of each disease in the overall structure in terms of age group of patients. The object of the in vestigation are data of the Department of Statistics of the Ministry of Health on the cases of rare diseases, that were registered in Ukraine as of January 2020 and Medical Genetics Center’s data. The study was conducted using informative methods of analysis (collection and data processing), systematization and generalization, mathematical and statistical calculations. According to the Сenter’s of Medical Statistics of the Ministry of Health data the total number of registered patients was 10786 patients, of whom children accounted for 54%. Among given diseases the largest proportion of patients had been registered with a diagnosis of «juvenile rheumatoid arthritis» – 2,291 patients, most of whom, almost 80%, are children. Among 18 rare diseases, 11%, were registered only among pediatric patients: Pump's disease, Fabri's disease. It has been established that Kyiv, Poltava, Dnipro, Ivano-Frankivsk and Kharkiv regions had been characterized by the highest total number of orphan patients. Regions with the lowestregistered number of orphan patients – are Luhansk, Lviv, Kherson, Sumyand Volyn. There was no information on registered RDs in Chernivtsi, Odesa, Zakarpattia regions and Kyiv city from the Center for Medical Statistics of the Ministry of Health, but it was indicated the cases of four RDs in Odessa region and Kyiv city by newborn screening program in 2020, that has shown problems in the collection, centralization and coordination of the statistic information of RDs and needs to be resolved in the future at the state and regional levels.