Rare Diseases: Challenges in Diagnosis and Treatment
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Abstract
Rare diseases or EPF (Rare Conditions) are conditions that affect a small percentage of the population but represent a significant public health challenge, impacting approximately 6-8% of the global population. It is estimated that there are between 6,000 and 8,000 rare diseases, though the number varies due to inconsistent definitions and differences in diagnostic technologies across countries. In some places, such as the United States, a disease is considered rare if it affects fewer than 200,000 people, while in Europe and Japan, the definitions differ. In Argentina, rare diseases affect 1 or less in 2,000 people, and the National Law 26.689 of 2011 ensures rights for diagnosis, treatment, and comprehensive care for patients. This lack of consensus complicates both diagnosis and treatment.
Despite advances in research and the creation of orphan drugs, many disorders still lack approved treatments. It is estimated that around 80% of rare diseases have a genetic cause, although this data has not been confirmed through thorough analysis. Additionally, certain diseases are more prevalent in specific regions due to particular genetic mutations. The exact number of rare diseases remains uncertain, and although the range is cited as 6,000 to 8,000, databases list more than 21,000 diseases, suggesting the number could be significantly higher. This highlights the need for greater harmonization in the definition and research of these conditions.
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