Healthcare Burden of Rare Diseases: A Population-Based Study in Tuscany (Italy)

Abstract: Patients with rare diseases (RDs) need tailored, continuous, and multidisciplinary hospitalcare. This retrospective cohort study aimed to analyse the healthcare burden of RD patients usinga multi-database approach, by linking the data of the Rare Diseases Registry of Tuscany with theregional hospital discharge database. The study population included 21,354 patients diagnosed witha RD between 1 January 2000 and 31 December 2017. The healthcare burden was evaluated for all theRDs during 2009-2018 period. The hospitalisation rate (per 1000) decreased over the years, rangingfrom 606.9 in 2009 (95% CI: 589.2-625.0) to 443.0 in 2018 (95% CI: 433.2-453.0). A decrease in theaverage length of stay (LOS) was observed in the earlier years, followed by an increase up to a steadytrend (8.3 days in 2018). The patients with RDs of metabolism and the genitourinary system showedthe highest hospitalisation rate (903.3 and 644.0 per 1000, respectively). The patients with rare immunesystem disorders and diseases of the skin and subcutaneous tissue showed the highest LOS (9.7 and9.5 days, respectively). The methodological approach presented in this population-based study makesit possible to estimate the healthcare burden of RDs, which is crucial in the decision-making and planning aimed at improving patient care.