Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
Top Cited Papers
Open Access
- 16 September 2019
- journal article
- research article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 28 (2), 165-173
- https://doi.org/10.1038/s41431-019-0508-0
Abstract
Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used the publicly available epidemiological data in the Orphanet database to calculate such a prevalence estimate. Overall, Orphanet contains information on 6172 unique rare diseases; 71.9% of which are genetic and 69.9% which are exclusively pediatric onset. Global point prevalence was calculated using rare disease prevalence data for predefined geographic regions from the ‘Orphanet Epidemiological file’ (http://www.orphadata.org/cgi-bin/epidemio.html). Of the 5304 diseases defined by point prevalence, 84.5% of those analysed have a point prevalence of n = 149) diseases in the most common prevalence range (1–5 per 10 000). Consequently national definitions of ‘Rare Diseases’ (ranging from prevalence of 5 to 80 per 100 000) represent a variable number of rare disease patients despite sharing the majority of rare disease in their scope. Our analysis yields a conservative, evidence-based estimate for the population prevalence of rare diseases of 3.5–5.9%, which equates to 263–446 million persons affected globally at any point in time. This figure is derived from data from 67.6% of the prevalent rare diseases; using the European definition of 5 per 10 000; and excluding rare cancers, infectious diseases, and poisonings. Future registry research and the implementation of rare disease codification in healthcare systems will further refine the estimates.Keywords
This publication has 20 references indexed in Scilit:
- Rare disease policies to improve care for patients in EuropeBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2015
- Geographic variations in epidemiology of two autoimmune bullous diseases: pemphigus and bullous pemphigoidArchiv für dermatologische Forschung, 2015
- A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseasesOrphanet Journal of Rare Diseases, 2014
- Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis SocietyEuropean Heart Journal, 2014
- A population-based registry as a source of health indicators for rare diseases: the ten-year experience of the Veneto Region’s rare diseases registryOrphanet Journal of Rare Diseases, 2014
- Diagnosis, misdiagnosis, and associated diseases of achalasia in children and adolescents: a twelve-year single center experiencePediatric Surgery International, 2012
- Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end usersHuman Mutation, 2012
- Rare cancers are not so rare: The rare cancer burden in EuropeEuropean Journal of Cancer, 2011
- Use of variability in national and regional data to estimate the prevalence of lymphangioleiomyomatosisQJM: An International Journal of Medicine, 2011
- How did uncommon disorders become ‘rare diseases’? History of a boundary objectSociology of Health & Illness, 2009