Diagnostic delays of up to 5 years for 70-90% of patients with primary immunodeficiencies (PID), forced to have a compromised quality of life, with a worsening of survival and prognosis: an alarming fact which has serious repercussions not only for patients , but also for caregivers and the National Health Service. Photographing the condition of patients with PID – pathologies of innate and rare genetic origin, which present alterations in the functioning of the immune system causing infections and diseases such as haematological disorders, irreversible organ damage up to the onset of tumors – is a group of experts who met today in Rome, on the occasion of an event organized with the unconditional support of Becton Dickinson, to discuss and define the diagnostic path for these patients.
A path that can be summarized in 4 points, remember a note: the suspected diagnosis must be entrusted to the pediatrician of free choice or to the general practitioner, in order to be able to identify the alarm signals and prescribe laboratory tests; if a first suspicion is found, patients must be sent to regional territorial centers, pediatric clinics or peripheral hubs, to carry out an initial immunological typing test with flow cytometry to obtain a diagnostic direction; upon completion of the diagnosis, the patient must be referred to specialized reference centers (IpiNet, Aieop) and European reference networks for rare diseases, where in-depth immunological typing can be carried out with subsequent timely initiation of adequate and individual therapy; following the diagnosis and definition of treatment, a therapeutic continuity program must be activated. The patient is sent to the regional territorial centers where clinical, laboratory and instrumental monitoring will be periodically performed in person or remotely.
Among the main symptoms that may arouse suspicion are frequent infectious events, especially at the pulmonary level, complex allergic forms, dermatological anomalies and neurological problems. For these patients – in Italy the estimated prevalence is 5.1 cases per 100 thousand inhabitants for the approximately 300 forms of PID, a figure that is highly underestimated due to diagnostic delays – if diagnostics plays a central role in management and treatment, equally important according to the experts is the definition of a path of alignment and involvement of all the players in the system, a multidisciplinary approach for a timely diagnosis thanks to the technological innovation of flow cytometry, which plays a central role in the diagnosis of PID thanks to the rapid evaluation of the different components of the immune system.
“According to a study by the Jeffrey Model Foundation – explains Paolo Sciattella, Ceis-Eehta professor, Faculty of Economics, University of Rome Tor Vergata – patients with a clear diagnosis weigh on the health system approximately 4 or 5 times less than patients without a diagnosis. The total costs for the treatment of primary immunodeficiencies are around 13-15 million euros per year – he adds – highlighted that, every year, more than 2 thousand patients with PID are hospitalized, generating an average expense of approximately 3 thousand euros per patient and an overall expense of over 6 million euros”.
“It is important to underline – continues Sciattella – that the need for hospitalization does not only impact healthcare spending, but generates indirect costs linked to the loss of productivity of the patient and caregiver. The results of the study highlight the importance of a diagnosis and early management which, in addition to improving the survival and prognosis of patients, allows us to optimize the use of healthcare resources, generating savings for the National Health Service and for the social system as a whole correctly diagnosed or diagnosed late, in addition to suffering a worsening of the state of health, it has important repercussions on the quality of life in terms of high rates of disability, frequent absences from work, repeated hospitalizations and medical visits. A situation that worsens if one considers that they exist notable differences in management between the reference centers and the territory, with consequent inhomogeneities that worsen the diagnostic outcome”.
The group of experts underlines the importance of bringing the patient management model to the attention of the National Center for Rare Diseases as well as creating greater awareness of the new diagnostic means currently available within the scientific communities, including those of reference in the field of general medicine (Fimmg, Simg, Fimp), thanks also to continuous training activities.
“PIDs are diseases of children and adults, due to a defect in the immune system, often on a genetic basis – comments Raffaele Badolato, full professor of Paediatrics and director of the Pediatric Clinic of the University of Brescia, Spedali Civili di Brescia – These conditions are characterized by serious infections that lead to damage to the organism and which in some cases can even be fatal. PIDs can also arise as autoimmune diseases or as serious allergic manifestations, immunological and sometimes genetic diagnostic investigations must be carried out The first level tests, which evaluate the plasma levels of antibodies and the different types of white blood cells present in the blood, can be prescribed by pediatricians and general practitioners, while for more in-depth immunological analysis tests, such as flow cytometry. , and for generic investigations it is necessary to resort to third level centers such as those of the Aieop-IpiNet network for the purposes of a correct interpretation”.
“Living with a primary immunodeficiency is living ‘waiting’ – describes Filippo Cristoferi, head of institutional relations at Aip Odv (Association of primitive immunodeficiencies) – Waiting for a personalized diagnosis, for adequate and timely therapy, for an integral management process Waiting with you are the family and the caregivers, who offer protection and assistance.
It is therefore necessary – conclude the experts – to develop within the National Rare Diseases Plan a section dedicated to immunological typing, to allow patients with PID to access more effective and homogeneous diagnostic and therapeutic services at a national level in a timely manner. But it remains of fundamental importance to be able to best define the needs at a regional level in order to be able to give an increasingly better response to patients, their families and caregivers and therefore offer them a better quality of life.
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