Abstract
BackgroundAlthough rare diseases have become a major public health issue, there is a paucity of population-based data on rare diseases. The aim of this epidemiological study was to provide descriptive figures referring to a sizable group of unrelated rare diseases.MethodsData from the rare diseases registry established in the Veneto Region of north-east Italy (population 4,900,000), referring to the years from 2002 to 2012, were analyzed. The registry is based on a web-based system accessed by different users. Cases are enrolled by two different sources: clinicians working at Centers of expertise officially designated to diagnose and care patients with rare diseases and health professionals working in the local health districts. Deaths of patients are monitored by Death Registry.ResultsSo far, 19,547 patients with rare diseases have been registered, and 23% of them are pediatric cases. The overall raw prevalence of the rare diseases monitored in the population under study is 33.09 per 10,000 inhabitants (95% CI 32.56-33.62), whilst the overall incidence is 3.85 per 10,000 inhabitants (95% CI 3.67-4.03). The most commonly-recorded diagnoses belong to the following nosological groups: congenital malformations (Prevalence: 5.45/10,000), hematological diseases (4.83/10,000), ocular disorders (4.47/10,000), diseases of the nervous system (3.51/10,000), and metabolic disorders (2,95/10,000). Most of the deaths in the study population occur among pediatric patients with congenital malformations, and among adult cases with neurological diseases. Rare diseases of the central nervous system carry the highest fatality rate (71.36/1,000). Rare diseases explain 4.2% of general population Years of Life Lost (YLLs), comparing to 1.2% attributable to infectious diseases and 2.6% to diabetes mellitus.ConclusionsOur estimates of the burden of rare diseases at population level confirm that these conditions are a relevant public health issue. Our snapshot of their epidemiology is important for public health planning purposes, going to show that population-based registries are useful tools for generating health indicators relating to a considerable number of rare diseases, rather than to specific conditions.
Highlights
Rare diseases have become a major public health issue, there is a paucity of population-based data on rare diseases
There is a general shortage of epidemiological data on many rare diseases, making it impossible to calculate the true burden of these conditions as a whole in terms of years of life lost due to premature death, those lost due to disability, and so on [5]
Excluding rare cancers, the conditions monitored by the rare disease registry represent 58% of all the rare diseases included in the Orphanet list
Summary
Rare diseases have become a major public health issue, there is a paucity of population-based data on rare diseases. More attention has been addressed to this issue of late, only a few population-level snapshots of the impact of rare diseases are currently available. It has been estimated, for example, that rare diseases are responsible for about one in three cases of severe impairment in children [4]. The paucity and fragmentation of available data make it difficult to compare the burden attributable to rare diseases with the one due to other more common diseases, injuries or risk factors, and such comparisons are fundamental to health care decisionmaking and planning at population level [6,7]
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