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[Rare diseases: general principles, specific problems, and health interventions]
1Laboratorio di Ultrastrutture, Istituto Superiore di Sanità, Roma.
Abstract:
Rare diseases are a large group of about 5000 diseases, 90% of which are genetically determined, which potentially involve all human organs and are characterized by a low prevalence in the population; this is frequently associated to problems in achieving a rapid and correct diagnosis and an adequate treatment. Up to now, a generally accepted definition or classification of rare diseases is not available. The Programme of Community Action 1999-2003 on rare diseases within the framework for action in the field of public health gives the following definition for rare diseases: diseases with a prevalence in the European Union (EU) population of less than 5 per 10,000. Notwithstanding the low prevalence of each disorder, rare diseases are very numerous and, when considered overall, they are a significant public health problem in many countries (e.g. Italy, Europe, USA); in fact rare diseases are often chronic and invalidating or cause early mortality. In this report, we illustrate some general concepts and specific problems regarding rare diseases as well as public health activities being undertaken in the USA, EU and Italy.
Insights
Rare diseases, often genetic, pose diagnostic and treatment challenges. Though individually uncommon, collectively they represent a significant global public health concern.
Area of Science:
- Genetics and Public Health
- Epidemiology of Rare Disorders
Context:
- Rare diseases affect approximately 5,000 conditions, with 90% having genetic origins.
- Characterized by low population prevalence, they often lead to diagnostic and therapeutic delays.
- A universally accepted definition and classification for rare diseases are still lacking.
Purpose:
- To define rare diseases based on European Union prevalence criteria.
- To highlight the collective public health impact of numerous rare disorders.
- To review general concepts, challenges, and public health initiatives in the USA, EU, and Italy.
Summary:
- Rare diseases are defined as conditions affecting fewer than 5 in 10,000 people in the European Union.
- Despite low individual prevalence, the sheer number of rare diseases makes them a substantial public health issue.
- These conditions are frequently chronic, disabling, or fatal, impacting individuals and healthcare systems.
Impact:
- Underscores the need for improved diagnostic and treatment strategies for rare diseases.
- Emphasizes the significant public health burden posed by rare diseases globally.
- Informs ongoing public health activities and policy development in affected regions.