There is the thirty-year-old Eugenia, who tells of “years of research” to give a name to her disease, and of her life finally changed after the diagnosis. And Carmen, over 50, who lived for about ten years amidst unjustified asthma, pneumonia, severe nasal polyposis, before arriving at the diagnosis of Egpa in 2009, following a hospitalization due to the onset of a severe multiple mononeuropathy . These are just some of the faces of Apacsthe association founded by patients affected by a rare disease – eosinophilic granulomatosis with polyangiitis, Egpa – who accompany the president Francesca R. Torracca in her awareness-raising activity, born just 5 years ago from a reflection: “After the diagnosis I received in 2013, I felt alone and scared”, she says.
Looking for people to share a journey with, Torracca first opens a blog, then a group on Facebook. “Now we are about 500. Many, if you think that in Italy there are about a thousand patients in all”. The association was born in 2017, Torracca retraces today during a meeting promoted in Milan to take stock of the progress of a monoclonal antibody, mepolizumab, which – after severe asthma – has become the first treatment approved for the EGPA, and a new option for patients with another rare disease, hypereosinophilic syndrome (Hes) without a known hematologic secondary cause, and for patients with chronic rhinosinusitis with nasal polyposis (CRSWNP). A precision weapon today for 4.
The stories of these patients tell of the difficulty of receiving a diagnosis. “We are talking about diagnostic latencies which in the literature reach 8-10 years. So these people have traveled to specialists, hospitals, emergency rooms even for 8-10 years. This is why, first of all, multidisciplinarity is essential to follow them in the best possible way”, highlights Roberto Padoan, specialist in Rheumatology, head of the Vasculitis Center of UOC Rheumatology, university hospital of Padua. “Our disease – confirms Torracca – is often mistaken for asthma, perhaps with polyposis, until one day the patient develops vasculitis which affects an organ and there the problem becomes serious”, between “hospitalizations and long-term consequences heavy”.
Patients also felt the need for tailor-made, precision therapy. Mepolizumab, says Torracca, “it changed our lives. It allowed us to take off the steroid in many cases, to take off the immunosuppressants and to feel better. However, more and more must be done for early diagnosis”, especially in the smaller centers. These diseases, Padoan intervenes, have “a common denominator: eosinophils”, white blood cells mainly involved in allergic reactions. “These are diseases that have an incidence at Italian and European level of about 1-2 up to 5-6 new cases per year per million inhabitants and the prevalence reaches 10-15 cases per million inhabitants”, explains the expert.
The effects that Egpa and Hes can have “on quality of life but also on life expectancy are very severe. If not recognized in time and not treated, they lead to mortality“, warns Padoan, highlighting however how in recent years there has been “a surge in progress. You have progressed from a life-threatening disease to a chronic disease, as such with possible accumulation of damage over time. This is because both Egpa and Hes have a constant intermittent and relapsing pattern. Today the approach has completely changed and having precision medicine in this case is an important goal that was unthinkable”.
However, we need to increase knowledge and information about these diseases. “As an association – explains Torracca – one thing we are doing are meetings with general practitioners and we have also presented information projects for them. Because these diseases are not yet known by everyone. If a patient has asthma, if he has eosinophilia, should be sent to the specialist, because then the specialist is able to recognize and orient the patient.The general practitioner is not asked to make the diagnosis, because it is impossible, but to suspect that something is wrong, Yes”.