Registration of persons with rare diseases in Serbia: A 10-year analysis

Abstract

The European Commission has defined a single standard for collecting data on rare diseases in Europe, ensuring the comparability and interoperability of data collected from European registers and creating preconditions for improving treatment and outcomes for patients suffering from rare diseases. From 2014 to 2023, a total of 6262 people were registered in the Rare Diseases Register in Serbia. Approximately a third of all registered persons (33.0%) were people with rare musculoskeletal diseases, followed by rare disorders in the following groups: endocrine diseases (12.8%), malignant tumours (11.7%), diseases of the nervous system (10.2%), congenital deformation and chromosomal anomalies (8.9%), diseases of the blood and blood forming organs and disorders of the immune mechanism (5.4%) and diseases of the skin and subcutaneous tissue (2.1%). The fewest persons with rare disorders were recorded in groups of diseases of the digestive system (0.6%), within symptoms and abnormal clinical findings (0.5%) and infectious and parasitic diseases (0.1%). In the observed period, 8.0% of people who only had an ORPHA code were registered, i.e. who did not have an ICD:10 code assigned. The data of the Rare Diseases Registry provides for a professional approach to healthcare planning, conducting statistical and scientific research, formulating health policies and improving the organization of healthcare for rare diseases patients. The data of the Registry is also used for informing the public and complying with international obligations in this healthcare field. Organization and improvement of healthcare for people with rare diseases should be based on accurate epidemiological data to enable planning tailored to real needs and identified problems.