Cargando…

Survival of patients with rare diseases: a population-based study in Tuscany (Italy)

BACKGROUND: Rare diseases (RDs) encompass a heterogeneous group of life-threatening or chronically debilitating conditions that individually affect a small number of subjects but overall represent a major public health issue globally. There are still limited data on RD burden due to the paucity of l...

Descripción completa

Detalles Bibliográficos
Autores principales: Gorini, Francesca, Coi, Alessio, Mezzasalma, Lorena, Baldacci, Silvia, Pierini, Anna, Santoro, Michele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8201697/
https://www.ncbi.nlm.nih.gov/pubmed/34127030
http://dx.doi.org/10.1186/s13023-021-01907-0
_version_ 1783707853855391744
author Gorini, Francesca
Coi, Alessio
Mezzasalma, Lorena
Baldacci, Silvia
Pierini, Anna
Santoro, Michele
author_facet Gorini, Francesca
Coi, Alessio
Mezzasalma, Lorena
Baldacci, Silvia
Pierini, Anna
Santoro, Michele
author_sort Gorini, Francesca
collection PubMed
description BACKGROUND: Rare diseases (RDs) encompass a heterogeneous group of life-threatening or chronically debilitating conditions that individually affect a small number of subjects but overall represent a major public health issue globally. There are still limited data on RD burden due to the paucity of large population-based epidemiological studies. The aim of this research was to provide survival estimates of patients with a RD residing in Tuscany, Italy. METHODS: Cases collected in the Rare Diseases Registry of Tuscany with diagnosis between 1st January 2000 and 31th December 2018 were linked to the regional health databases in order to retrieve information on mortality of all subjects. Survival at 1, 5 and 10 years from diagnosis with 95% confidence intervals (CI) was estimated by sex, age class, nosological group and subgroup using the Kaplan–Meier method. The effect of sex, age and period of diagnosis (years 2000–2009 or 2010–2018) on survival was estimated using Cox proportional hazards regression. RESULTS: Survival at 1, 5 and 10 years from diagnosis was 97.3%, 88.8% and 80.8%, respectively. Respiratory diseases and peripheral and central nervous system disorders were characterized by the lowest survival at 5 and 10 years. Despite a modest higher prevalence of RDs among females (54.0% of the total), male cases had a significant increased risk of death (hazard ratio, HR 1.48, 95% CI 1.38–1.58). Cases diagnosed during 2010–2018 period had a risk of death significantly lower than those diagnosed during 2000–2009 (HR 0.81, 95% CI 0.82–0.96), especially for immune system disorders (HR 0.48, 95% CI 0.26–0.87), circulatory system diseases (HR 0.61, 95% CI 0.45–0.84) and diseases of the musculoskeletal system and connective tissue (HR 0.64, 95% CI 0.49–0.84). CONCLUSIONS: An earlier diagnosis as well as the improvement in the efficacy of treatment resulted in a decreased risk of death over the years for specific RDs. The linkage between a population-based registry and other regional databases exploited in this study provides a large and accurate mass of data capable of estimating patients’ life-expectancy and increasing knowledge on the collective burden of RDs. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01907-0.
format Online
Article
Text
id pubmed-8201697
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-82016972021-06-15 Survival of patients with rare diseases: a population-based study in Tuscany (Italy) Gorini, Francesca Coi, Alessio Mezzasalma, Lorena Baldacci, Silvia Pierini, Anna Santoro, Michele Orphanet J Rare Dis Research BACKGROUND: Rare diseases (RDs) encompass a heterogeneous group of life-threatening or chronically debilitating conditions that individually affect a small number of subjects but overall represent a major public health issue globally. There are still limited data on RD burden due to the paucity of large population-based epidemiological studies. The aim of this research was to provide survival estimates of patients with a RD residing in Tuscany, Italy. METHODS: Cases collected in the Rare Diseases Registry of Tuscany with diagnosis between 1st January 2000 and 31th December 2018 were linked to the regional health databases in order to retrieve information on mortality of all subjects. Survival at 1, 5 and 10 years from diagnosis with 95% confidence intervals (CI) was estimated by sex, age class, nosological group and subgroup using the Kaplan–Meier method. The effect of sex, age and period of diagnosis (years 2000–2009 or 2010–2018) on survival was estimated using Cox proportional hazards regression. RESULTS: Survival at 1, 5 and 10 years from diagnosis was 97.3%, 88.8% and 80.8%, respectively. Respiratory diseases and peripheral and central nervous system disorders were characterized by the lowest survival at 5 and 10 years. Despite a modest higher prevalence of RDs among females (54.0% of the total), male cases had a significant increased risk of death (hazard ratio, HR 1.48, 95% CI 1.38–1.58). Cases diagnosed during 2010–2018 period had a risk of death significantly lower than those diagnosed during 2000–2009 (HR 0.81, 95% CI 0.82–0.96), especially for immune system disorders (HR 0.48, 95% CI 0.26–0.87), circulatory system diseases (HR 0.61, 95% CI 0.45–0.84) and diseases of the musculoskeletal system and connective tissue (HR 0.64, 95% CI 0.49–0.84). CONCLUSIONS: An earlier diagnosis as well as the improvement in the efficacy of treatment resulted in a decreased risk of death over the years for specific RDs. The linkage between a population-based registry and other regional databases exploited in this study provides a large and accurate mass of data capable of estimating patients’ life-expectancy and increasing knowledge on the collective burden of RDs. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01907-0. BioMed Central 2021-06-14 /pmc/articles/PMC8201697/ /pubmed/34127030 http://dx.doi.org/10.1186/s13023-021-01907-0 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Gorini, Francesca
Coi, Alessio
Mezzasalma, Lorena
Baldacci, Silvia
Pierini, Anna
Santoro, Michele
Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
title Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
title_full Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
title_fullStr Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
title_full_unstemmed Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
title_short Survival of patients with rare diseases: a population-based study in Tuscany (Italy)
title_sort survival of patients with rare diseases: a population-based study in tuscany (italy)
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8201697/
https://www.ncbi.nlm.nih.gov/pubmed/34127030
http://dx.doi.org/10.1186/s13023-021-01907-0
work_keys_str_mv AT gorinifrancesca survivalofpatientswithrarediseasesapopulationbasedstudyintuscanyitaly
AT coialessio survivalofpatientswithrarediseasesapopulationbasedstudyintuscanyitaly
AT mezzasalmalorena survivalofpatientswithrarediseasesapopulationbasedstudyintuscanyitaly
AT baldaccisilvia survivalofpatientswithrarediseasesapopulationbasedstudyintuscanyitaly
AT pierinianna survivalofpatientswithrarediseasesapopulationbasedstudyintuscanyitaly
AT santoromichele survivalofpatientswithrarediseasesapopulationbasedstudyintuscanyitaly