New data on the prevalence of rare diseases
Orphanet has released an updated report, "Prevalence and Incidence of Rare Diseases: Bibliographic Data".
This document, covering over 4,300 rare diseases, provides valuable information for understanding the magnitude of these conditions at the global and regional levels.
The report is based on a systematic review of the scientific literature, data from registries (RARECARE, EUROCAT), reports from international and national health agencies, and expert assessments. Both global and European indicators are presented (*). For diseases where prevalence data are not available, estimates based on recorded cases are used.
Methods of calculation: point prevalence, birth rates, and life expectancy of patients. This allows us to estimate the magnitude of diseases in a global and regional context.
Top 5 diseases by prevalence (descending):
- Down syndrome – 95 cases per 100,000 people.
- Cleft lip and palate – 80 cases per 100,000 people.
- Systemic lupus erythematosus – 43.7 cases per 100,000 people.
- Neurofibromatosis type 1 – 33.3 cases per 100,000 people.
- Cystic fibrosis – 11.1 cases per 100,000 people.
Top 5 rarest diseases:
- Campomelic dysplasia – 0.0003 cases per 100,000 people.
- Epignatus – 0.0017 cases per 100,000 people.
- Siren syndrome (sirenomelia) – 0.01 cases per 100,000 people.
- Wolfram syndrome – 0.13 cases per 100,000 people.
- Hurler syndrome (severe form of mucopolysaccharidosis type I) – 0.5 cases per 100,000 people.
Important: The report highlights that rare diseases are a significant burden on healthcare systems and patients. Many of them are accompanied by severe clinical manifestations and require complex treatment. For example, cystic fibrosis is associated with severe respiratory problems that require ongoing medical intervention, and systemic lupus erythematosus can be disabling and requires long-term, complex treatment. These diseases require not only a medical but also a social approach to minimize their impact on patients and their families.
