Adnkronos Rome, November 17 (Adnkronos Salute) – It shines a spotlight "on a rare disease, increases awareness and knowledge about EGPA, focusing on specific aspects of the disease to potentially advance its diagnosis." This is how Giacomo Emmi, Full Professor of Internal Medicine at the University of Trieste and Director of the Clinical Medicine and Rheumatology Complex Unit at the Cattinara University Hospital in Trieste, explains the objective of the White Paper 'Life Stories with EGPA', dedicated to Eosinophilic Granulomatosis with Polyangiitis, a rare autoimmune disease that affects small and medium-sized blood vessels, causing inflammation and damage to various organs.
The added value of this publication "is the collaboration that has been created between patients and doctors which, in this case," she adds, "is very close, probably closer than is usually the case." The other strong point "is the multidisciplinarity guaranteed by the presence of various clinicians: from the immunologist to the allergist, from the anthropologist to the nephrologist, to the ENT specialist," Emmi explains. "I believe that this collaboration between patients and specialists from different branches of medicine is something new," at least "in the panorama of rare diseases."
The white paper, born from active listening to people with EGPA—thanks to the Churg Strauss Syndrome Patients Association (APACS)—and clinicians, "first and foremost addresses the problem of diagnostic delay, which exists in all rare diseases," the expert observes, "but particularly in EGPA, because it has very nonspecific symptoms, which millions of people worldwide experience: namely, asthma and nasal polyposis. There are millions of people, even in Italy, with these symptoms who then, at a certain point, develop slightly more specific symptoms that can then raise suspicion" of the disease.
Among the warning signs highlighted in the White Paper, "the main one," Emmi specifies, "is an increase in a type of white blood cell, eosinophils, in a patient with asthma, a history of rhinosinusitis, and polyposis. The onset of symptoms that may be nonspecific but systemic—fever, weight loss, and fatigue—that cannot be otherwise explained, are key elements to consider." There are also "more specific or more severe symptoms," she clarifies, "such as certain skin manifestations that immediately suggest vasculitis, such as purpura, or neuropathy, i.e., inflammation of the nerves. In this case, clinical suspicion usually arises." Furthermore, "severe manifestations such as inflammatory involvement of the heart may occur: in that case, obviously, suspicion becomes high." The EGPA is aimed at "young people," Emmi recalls, "usually people between 30 and 50, with no particular gender bias. Almost all are asthmatic, but often, unlike common asthma, patients develop asthma in adulthood." In such a rare disease, "the patient association," the expert concludes, "is crucial because it can collaborate closely with those with the condition, but also with stakeholders: it can indicate the right centers" and, "through close contact with clinicians," it also helps improve the quality of care.