What is a rare disease?

The facts

  • The European Union considers a disease as rare when it affects less than 1 in 2,000 citizens.
  • Rare diseases currently affect 3.5% - 5.9% of the worldwide population, an estimated 30 million people in Europe and 300 million worldwide. 
  • Over 6,000 different rare diseases have been identified to date.
  • 72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies and environmental causes.
    • 70% of those genetic rare diseases start in childhood.

The impact

Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Due to the low prevalence of each disease, medical expertise is rare, knowledge is scarce, care offerings inadequate and research limited. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment, and the benefits of research.

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Typically disabling, the quality of life of a person living with a rare disease is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.

Rare diseases not only affect the person diagnosed - they also impact families, friends, care takers and society as a whole.

Read more:
>> Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Page created: 19/08/2009
Page last updated: 08/07/2020
 
 
The voice of rare disease patients in EuropeEURORDIS The international voice of people living with rare diseasesRare Disease International Bringing together patients, families and experts to share experiences in a moderated multi-language forum. RareConnect The Rare Barometer Programme is a EURORDIS initiative that carries out surveys to transform rare disease patients' experiences into figures and facts that can be shared with decision-makers.Rare Barometer An international awareness raising campaign taking place on the last day of February each year, Rare Disease Day is a EURORDIS initiativeRare Disease Day Join the largest gathering of rare disease stakeholders across Europe, at the biennial European Conference on Rare Diseases and Orphan Products. ECRD is a EURORDIS initiativeEuropean Conference on Rare Diseases