Francesco Peyronel, MD (Meyer Children’s University Hospital – IRCCS, Firenze, Italy)
Survival of patients affected by Erdheim-Chester disease (ECD) has substantially improved over the last decades, thanks to the increased awareness of the disease, the consequent earlier diagnosis, and the use of novel therapies targeting specific mechanisms of key relevance in the disease development. However, patients with ECD still experience significant long-term sequelae, such as neurological disturbances, renal insufficiency, and drug-related toxicity. A more comprehensive evaluation of patients with ECD should therefore assess not only their survival probability but also the development of such long-term consequences.
To date, no large-scale study has evaluated the prognosis of patients with ECD, nor developed a predicting tool capable of defining the probability of survival or chronic disease-related disabilities. The present study aims at developing a comprehensive scoring system for patients with ECD that takes into account several clinical factors which, together with patient-reported measures. This tool will be used to predict the risk of death and of other disease-related consequences.
Both clinicians and patients would benefit from this scoring system: it would be of great usefulness in everyday clinical practice, since it could guarantee an improvement in patients’ evaluation, not only defining the probability of survival but also clarifying the risk of other specific long-term outcomes. Moreover, patients and families would receive more accurate prognostic information, becoming aware of the risk of specific long-term sequelae and eventually being able to improve their means to prevent the rapid progression of chronic disturbances.