Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
Abstract Background Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim of this study is to provide data on mortality and survival for a substan...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02944-7 |
| _version_ | 1797273272953339904 |
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| author | Monica Mazzucato Laura Visonà Dalla Pozza Cinzia Minichiello Ema Toto Andrea Vianello Paola Facchin |
| author_facet | Monica Mazzucato Laura Visonà Dalla Pozza Cinzia Minichiello Ema Toto Andrea Vianello Paola Facchin |
| author_sort | Monica Mazzucato |
| collection | DOAJ |
| description | Abstract Background Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim of this study is to provide data on mortality and survival for a substantial group of RD deriving from a population-based registry, which covers the Veneto region in Italy (4.9 million inhabitants). Results During the study period, 3367 deaths occurred, mainly in males (53.9%), elderly patients (63.5%) and patients with diseases having a reported prevalence of 1–9/100000 (65.6%). When standardizing by age, the mortality ratio was higher in RD patients than in the general population, SMR = 1.93 (95% CI 1.84–2.11), with an observed gender difference, 2.01 (95% CI 1.88–2.29) in females and 1.86 (95% CI 1.73–2.10) in males. The lowest survival rates are experienced by patients with rare neurologic diseases, rare skin diseases and rare systemic or rheumatologic diseases, 58%, 68% and 81%, respectively, after a 15-year observation period. It should be noted that only 18% of patients diagnosed with motor neuron diseases were alive after 15 years from diagnosis. Conclusions Despite progress in diagnosis, treatment and care in recent years, RD patients globally have higher mortality rates and reduced survival compared to the general population, with specific variations according to gender, age and disease group. |
| first_indexed | 2024-03-07T14:42:04Z |
| format | Article |
| id | doaj.art-c36e32bded324fa0b3dd34a489fdd355 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-07T14:42:04Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-c36e32bded324fa0b3dd34a489fdd3552024-03-05T20:19:54ZengBMCOrphanet Journal of Rare Diseases1750-11722023-11-0118111110.1186/s13023-023-02944-7Estimating mortality in rare diseases using a population-based registry, 2002 through 2019Monica Mazzucato0Laura Visonà Dalla Pozza1Cinzia Minichiello2Ema Toto3Andrea Vianello4Paola Facchin5Rare Diseases Coordinating Centre, Veneto Region, Padua University HospitalRare Diseases Coordinating Centre, Veneto Region, Padua University HospitalRare Diseases Coordinating Centre, Veneto Region, Padua University HospitalRare Diseases Coordinating Centre, Veneto Region, Padua University HospitalDepartment of Child and Maternal Health, Padua University Hospital, University of PadovaRare Diseases Coordinating Centre, Veneto Region, Padua University HospitalAbstract Background Rare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with the same disease. Real-world data on RD as a whole are scarce. The aim of this study is to provide data on mortality and survival for a substantial group of RD deriving from a population-based registry, which covers the Veneto region in Italy (4.9 million inhabitants). Results During the study period, 3367 deaths occurred, mainly in males (53.9%), elderly patients (63.5%) and patients with diseases having a reported prevalence of 1–9/100000 (65.6%). When standardizing by age, the mortality ratio was higher in RD patients than in the general population, SMR = 1.93 (95% CI 1.84–2.11), with an observed gender difference, 2.01 (95% CI 1.88–2.29) in females and 1.86 (95% CI 1.73–2.10) in males. The lowest survival rates are experienced by patients with rare neurologic diseases, rare skin diseases and rare systemic or rheumatologic diseases, 58%, 68% and 81%, respectively, after a 15-year observation period. It should be noted that only 18% of patients diagnosed with motor neuron diseases were alive after 15 years from diagnosis. Conclusions Despite progress in diagnosis, treatment and care in recent years, RD patients globally have higher mortality rates and reduced survival compared to the general population, with specific variations according to gender, age and disease group.https://doi.org/10.1186/s13023-023-02944-7Rare diseasesEpidemiologyPublic healthMortalitySurvivalORPHAcodes |
| spellingShingle | Monica Mazzucato Laura Visonà Dalla Pozza Cinzia Minichiello Ema Toto Andrea Vianello Paola Facchin Estimating mortality in rare diseases using a population-based registry, 2002 through 2019 Orphanet Journal of Rare Diseases Rare diseases Epidemiology Public health Mortality Survival ORPHAcodes |
| title | Estimating mortality in rare diseases using a population-based registry, 2002 through 2019 |
| title_full | Estimating mortality in rare diseases using a population-based registry, 2002 through 2019 |
| title_fullStr | Estimating mortality in rare diseases using a population-based registry, 2002 through 2019 |
| title_full_unstemmed | Estimating mortality in rare diseases using a population-based registry, 2002 through 2019 |
| title_short | Estimating mortality in rare diseases using a population-based registry, 2002 through 2019 |
| title_sort | estimating mortality in rare diseases using a population based registry 2002 through 2019 |
| topic | Rare diseases Epidemiology Public health Mortality Survival ORPHAcodes |
| url | https://doi.org/10.1186/s13023-023-02944-7 |
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