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. 2023 Nov 17;18(1):362.
doi: 10.1186/s13023-023-02944-7.

Estimating mortality in rare diseases using a population-based registry, 2002 through 2019

Monica Mazzucato  1   2 , Laura Visonà Dalla Pozza  3 , Cinzia Minichiello  3 , Ema Toto  3 , Andrea Vianello  4 , Paola Facchin  5   6
Affiliations

Estimating mortality in rare diseases using a population-based registry, 2002 through 2019

Monica Mazzucato et al. Orphanet J Rare Dis. .

Erratum in

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.

Keywords: Epidemiology; Mortality; ORPHAcodes; Public health; Rare diseases; Survival.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Prevalence per 10,000 by age group (for the 0–11 months age group rates per 1000 live births are reported). Data as of December 31, 2019
Fig. 2
Fig. 2
Frequency and percentage distribution of RD patients alive as of December 31, 2019 by Orphanet classification in decreasing order
Fig. 3
Fig. 3
Distribution of age at death in RD patients and the general population (the Veneto region RD registry/National Institute of Health, 2002–2019)
Fig. 4
Fig. 4
Percentage distribution of RD, RD patients alive and RD patients deceased as of December 31, 2019 by disease prevalence class
Fig. 5
Fig. 5
Overall RD patient survival (a), by sex (b), by Orphanet classification (c), by groups of diseases (chromosomal anomalies, lysosomal storage diseases, motor neuron diseases, mitochondrial diseases) (d)
See this image and copyright information in PMC

References

    1. The Lancet Making rare diseases a public-health and research priority. Lancet. 2008 doi: 10.1016/S0140-6736(08)60842-9. - DOI - PubMed
    1. Chung CCY, Hong Kong Genome Project. Chu ATW, Chung BHY. Rare disease emerging as a global public health priority. Front Public Health. 2022 doi: 10.3389/fpubh.2022.1028545. - DOI - PMC - PubMed
    1. Aymé S, Bellet B, Rath A. Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding. Orphanet J Rare Dis. 2015 doi: 10.1186/s13023-015-0251-8. - DOI - PMC - PubMed
    1. Huyard C. How did uncommon disorders become 'rare diseases'? History of a boundary object. Sociol Health Illn. 2009 doi: 10.1111/j.1467-9566.2008.01143.x. - DOI - PubMed
    1. Paulukonis ST, Eckman JR, Snyder AB, Hagar W, Feuchtbaum LB, Zhou M, Grant AM, Hulihan MM. Defining sickle cell disease mortality using a population-based surveillance system, 2004 through 2008. Public Health Rep. 2016 doi: 10.1177/003335491613100221. - DOI - PMC - PubMed