Abstract
Abstract Objectives Auto-inflammatory Diseases (AIDs) are a group of diseases with a strong genetic component, inducing an inappropriate activation of innate immunity. The patients with pediatric onset will face the transitional care (TC) from a pediatrician to an adult care setting, during the critical phase of the adolescence. That implies a risk of failure and drop out, due to the different approach of pediatrician compared to the adult doctor. To describe the model of TC for AIDs from a paediatric to adult centre of two hospitals in Rome, and to pointing out the different steps emerged from specific experiences. Methods In November 2020, a Board of paediatricians and internists discussed their experience to identify “hot topics” for a successful management of TC. Results The Board agreed on the optimal time for the transition (12–18 years). Specific elements to be considered are the reached level of emotional and intellectual maturity, and the clinical stability of the disease. Conclusions The TC of patients with chronic AIDs, requires a strong cooperation to define the adequate follow-up, and to guarantee the compliance to the treatment. This model allows us to investigate AIDs complex cases, requiring a long period of observations.
Highlights
Auto-inflammatory Diseases (AIDs) are a group of rare conditions, with a strong genetic component, characterized by an inappropriate activation of innate immunity
The diagnosis is often a challenge, caused by low incidence, poor awareness of physicians and overlapping clinical presentations of these conditions. Since they are characterized by long diagnostic delay, frequently over 10 years, AIDs can occur during childhood, they are often recognized in adulthood
We describe the results of a meeting held in November 2020, “Board on management of autoinflammatory diseases: the transition from child to adult”; where was an extensive discussion on the AIDs in children and adults was done
Summary
Auto-inflammatory Diseases (AIDs) are a group of rare conditions, with a strong genetic component, characterized by an inappropriate activation of innate immunity. Clinical presentation of these diseases includes recurrent fever, defined as three or more episodes in a maximum period of six months. The diagnosis is often a challenge, caused by low incidence, poor awareness of physicians and overlapping clinical presentations of these conditions. Since they are characterized by long diagnostic delay, frequently over 10 years, AIDs can occur during childhood, they are often recognized in adulthood. In an Italian cohort, the TRAPS syndrome, the most frequent autosomal dominant autoinflammatory fever, has an average diagnostic delay of about 18 years [2]. The long course of these conditions implies need for the patient to a passage from a path of paediatric care to
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