They represent 25-30% of hospital pneumological activity. However, pulmonary fibrosis in addition to the heavy impact of diagnosis and prognosis, they are burdened by a complex and cumbersome diagnostic procedure. Result? Not all patients, with the typical ‘shortness of breath’, are followed up in centers of excellence capable of ensuring global management, greater accessibility to the various therapeutic options available today and to clinical trials. For this reason, more quality information and education for patients, family members and journalists is needed. In this regard, today in Rome, clinicians, patient associations and institutions met journalists during the continuing professional training course “Communicating pulmonary fibrosis. Reporting on the media and living with the disease through the experience of clinicians and patients”, the second appointment of the Be Informed project – Boehringer Ingelheim’s training academy for journalists. The course is promoted by the Master Sgp of the University of Rome La Sapienza with the aim of providing information professionals with the knowledge, innovations, tools and elements to correctly inform and communicate these respiratory pathologies.
Reduction in the ability to mobilize volumes of air during respiratory acts, reduction of oxygen in the blood with hypoxemia under exertion or, in the more advanced stages, at rest: idiopathic pulmonary fibrosis is quite rare, with an incidence of about 20 new cases per year per 100,000 males and 13 new cases per year per 100,000 females. However, the response is growing. Risk factors are age (mean age of onset 65 years), male sex, cigarette smoking and exposure to toxic inhalants. Familiarity can be documented in 1/5 of the cases.
“The mechanisms through which the IPF develops – explains Venerino Poletti, professor of respiratory system diseases, Alma Mater Studiorum University of Bologna – can be schematically grouped into three stages: in the initial phase there is an inability of the alveolar stem cells to reconstitute the lung for senescence. However, in an attempt to differentiate, they activate many molecular pathways that cause the appearance, in the lung parenchyma, of fibrotic microareas (stage II). In the more advanced stage these biochemical and molecular signals reach the stem cells of the small conductive airways (bronchioles) which, completely normal, begin to proliferate causing the replacement of the alveolar tissue with fibrotic tissue (stage III). Patients with Ipf suffer from dyspnoea first on exertion and then at rest that slowly worsens, a dry cough that is often difficult to control, fingers ‘to drumstick’”.
If left untreated, pulmonary fibrosis progresses to respiratory failure 4 to 6 years after diagnosis. The diagnostic process based on the clinic, on the presence at auscultation of the typical noises of “trampled dry leaves” (or Velcro sounds) and on aspects of the chest CT scan and, when necessary, lung biopsy, is complex and cumbersome.
Currently – details a note from Boehringer Ingelheim – drugs are available that can reduce functional decline and prolong survival. This is why it is important that patients are followed up in Centers of excellence, equipped with a multidisciplinary team for the complexity of the pathology and capable of ensuring the participation of patients in clinical trials of new therapies. Lung transplantation is an option reserved for younger patients (less than 8% of cases). Secondary pulmonary fibroses include those resulting from systemic inflammatory rheumatic diseases such as connective tissue disease and rheumatoid arthritis. In particular, systemic sclerosis (SSc) or scleroderma, a ‘hard skin’ disease, is the connective tissue disease that most frequently can manifest pulmonary involvement, so much so that it represents 20% of the causes of death in this group of patients.
“Early diagnosis is essential in these patients – underlines Dilia Giuggioli, associate professor of Rheumatology and director of the Aou Scleroderma Unit of Modena-Reggio Emilia – to carry out the necessary therapies as soon as possible to slow down the fibrotic evolution of the disease, correlated not only to a severe alteration of the quality of life but also to a poor prognosis. Interstitial lung disease (ILD) is present in a “mild” form in 80-90% of patients and, according to data from the Italian SSC registry, Spring, pulmonary involvement is already evident in 20% of early forms of the disease” .
“’Short breath’ – recalls Antonella Celano, president of Apmarr Aps – tells us of various things: the breathlessness of the person tired by the commitment to find a diagnosis and a name for a rare disease; breathlessness after years of research, when the diagnosis is reached late; the anguish to have one’s illness recognized and to have the appropriate treatment; the fact that one is left speechless (and feels more alone) when one realizes that an illness, as well as such a disabling experience, has no place in the pages of the newspapers. And then all that remains is to take a breath and speak, to tell about it”.
Not only the media and patient associations, but the institutions themselves – concludes the note – play an important role and must be called to pay greater attention to these pathologies, which most often affect people over 65 and already vulnerable.
“2021 was a crucial year for the protection of rare disease patients – comments Fabiola Bologna, former deputy in the XVIII legislature – in addition to the entry into force of the Consolidated text on rare diseases, law n.175, on 16 December the UN unanimously sanctioned the approval of the first Resolution on rare diseases. A sign of attention also came from the drafting of the Pnrr, presented on 30 April 2021, with the allocation of 50 million euros for research on rare diseases and another 50 million on rare tumors. The approval of law 175 was a great achievement of this legislature, as it built a regulatory framework for the protection of 2 million patients and their families who for years have been waiting for an overall text for the recognition of dedicated principles and instances “.