From Invisible to Essential: The Role of Internal Medicine in Rare Diseases
DOI:
https://doi.org/10.24950/rspmi.2849Keywords:
Internal Medicine, Rare Diseases, Transition to Adult Care, Palliative CareAbstract
Rare diseases represent a significant public health challenge, affecting 6% to 8% of the European population. Due to advances in neonatal screening and innovative therapies, over 90% of pediatric patients now survive into adulthood, creating a growing cohort of complex, multisystemic cases. Internal Medicine is the ideal specialty to manage these patients, offering the holistic and differentiated approach required for high-complexity care. Central to this perspective is the critical role of the internist in the transition from pediatric to adult care—a period of high vulnerability that demands structured, multidisciplinary planning to ensure treatment adherence. Furthermore, the internist’s diagnostic accuracy is vital in shortening the "diagnostic odyssey," particularly in emergency settings where subtle phenotypes of rare conditions can manifest. Finally, we emphasize the early integration of palliative care to safeguard patient dignity and support caregivers. However, strengthening clinical training and establishing dedicated teams within Internal Medicine are essential steps to ensure that no patient remains "orphaned" by the healthcare system.
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