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Aim <p>Aging of the general population, advances in diagnostic and therapeutic strategies, and care improvements are making rare diseases (RDs) an emerging phenomenon in the geriatric population. This study aims to provide a snapshot of the growing population of older RD patients using population-based data from the Veneto region rare disease registry (VRRDR), Italy.</p> Methods <p>We report the number of patients diagnosed in old age and the number of those transitioned 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.</p> Results <p>During the study period, 8975 patients received an RD diagnosis after 65&#xa0;years of age, while 4214 patients diagnosed in their childhood or adulthood experienced the transition to old age. On 31 December 2022, there were 9508 patients aged 65&#xa0;years or more residing in the study area, 20.8% of all Veneto’s RD patients. The most common groups of RDs in older patients are systemic or rheumatologic, neurologic, and skin diseases, affecting 27%, 25%, and 9% of the monitored geriatric population, respectively. Among prevalent cases, 1519 patients older than 65&#xa0;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 the antineoplastic and immuno-modulating agents (11.6%).</p> Conclusions <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月23日

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  • Monica Mazzucato,
  • Giulia Fanton,
  • Andrea Vianello,
  • Cinzia Minichiello,
  • Laura Visonà Dalla Pozza,
  • Ema Toto,
  • Laura Pastori,
  • Chiara Ceolin,
  • Marina De Rui,
  • Alessandra Coin,
  • Giorgio Perilongo,
  • Giuseppe Sergi

摘要

Aim

Aging of the general population, advances in diagnostic and therapeutic strategies, and care improvements are making rare diseases (RDs) an emerging phenomenon in the geriatric population. This study aims to provide a snapshot of the growing population of older RD patients using population-based data from the Veneto region rare disease registry (VRRDR), Italy.

Methods

We report the number of patients diagnosed in old age and the number of those transitioned 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, 8975 patients received an RD diagnosis after 65 years of age, while 4214 patients diagnosed in their childhood or adulthood experienced the transition to old age. On 31 December 2022, there were 9508 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 older patients are systemic or rheumatologic, neurologic, and skin diseases, affecting 27%, 25%, and 9% of the monitored geriatric population, respectively. Among prevalent cases, 1519 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 the antineoplastic and immuno-modulating 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.