Aging and rare diseases: from epidemiology to a call to action

Abstract

Abstract Background The number of older people living with a rare disease (RD) is increasing worldwide due to the population aging and scientific progress. This phenomenon poses several challenges for both patients and healthcare providers, who need to be aware of the peculiarities of this twice-as-frail population. Methods In the present study, we used data from the Veneto region rare disease registry (VRRDR) to investigate the epidemiology of older people living with a RD in the Veneto region of Italy. We report the number of patients diagnosed in old age and the number of those transited from adulthood into old age, estimating the prevalence of older RD patients as of 31 December 2022. Finally, we analyzed the composition of their therapeutic plans. Results During the study period, 8,975 patients received an RD diagnosis after 65 years of age, while 4,214 diagnosed in their childhood or adulthood experienced the transition to old age. On 31 December 2022, there were 9,508 patients aged 65 years or more residing in the study area, 20.8% of all Veneto’s RD patients. The most common groups of RDs in elderly patients were systemic or rheumatologic, neurologic, and skin diseases, affecting 27%, 25%, and 9% of the monitored geriatric population, respectively. Among prevalent cases, 1,519 patients older than 65 years had a therapeutic plan related to their rare condition. Specifically, the most prescribed drugs were those affecting the nervous system (27.8%), the alimentary tract and metabolism (12.8%), and antineoplastic and immunomodulating agents (11.6%). Conclusions As older patients represent a growing number in the RD population, geriatricians and general practitioners should be involved in RD care and training programs. Further studies are needed to determine the unmet care needs of older RD patients in order to design health policies able to address the peculiar challenges posed by this group of patients emerging within the RD population.