Primary immunodeficiencies (PID) are pathologies of innate and rare genetic origin that 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.
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. It is estimated that in Italy the prevalence is 5.1 cases per 100,000 inhabitants for the approximately 300 forms of PID, although this data is greatly underestimated due to diagnostic delays which, in some cases, reach up to 4 and 5 years. Delay that affects between 70 and 90 percent of patients.
An alarming fact that has serious repercussions not only for patients but also for caregivers and the NHS. According to a study by Jeffrey Model Foundationpatients 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 – comments Paolo Sciattella, CEIS-EEHTA Professor, Faculty of Economics, University of Rome, Tor Vergata – are around 13-15 million euros per year. To these, costs relating to complications requiring hospital care must be added. A recent study, conducted by the EEHTA-CEIS of the University of Rome ‘Tor Vergata’, highlighted that every year more than 2,000 patients with primary immunodeficiencies are hospitalized, generating an average expense of approximately €3,000 per patient and an total of over €6 million. It is important to underline 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 early diagnosis and management which, in addition to improving the survival and prognosis of patients, allow us to optimize the use of healthcare resources, generating savings for the National Health Service and for the social system as a whole”.
A patient who is not correctly diagnosed or diagnosed late, in addition to suffering a worsening of the state of health, has important repercussions on the quality of life in terms of high rates of disability, frequent abstentions from work, repeated hospitalizations and medical visits. A situation that worsens if we consider that there are notable differences in management between the reference centers and the territory, with consequent inhomogeneities that worsen the diagnostic outcome.
Manage the pathology and the diagnostic path. The meeting in Rome
Promoting interaction between the different levels of care and encouraging collaboration between GPs, paediatricians of free choice, peripheral clinics and specialized hospital structures becomes essential in order to guarantee rapid treatment of the patient starting from the diagnosis which, today , also makes use of “flow cytometry”, an innovative technology that plays a central role in the diagnosis of PID, thanks to the rapid evaluation of the different components of the immune system.
And if diagnostics plays a central role in the management and care of the patient, the definition of a path of alignment and involvement of all the players in the system is equally important. In this regard, a group of experts met today in Rome for an event organized with the unconditional support of Becton Dickinson, with the aim of discussing and defining the diagnostic path which, in summary, can be summarized in 4 points:
1) The diagnostic suspicion must be entrusted to the figures who see the patient first, generally the pediatrician of free choice or the GP in order to be able to identify the alarm signals and prescribe laboratory tests.
2) 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.
3) 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.
4) 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.
The Group of experts then underlined 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 now available within the scientific communities, including those of reference in the 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 body and which in some cases can even be fatal. In addition to infections, PIDs can also arise as autoimmune diseases or as serious allergic manifestations. To diagnose them, immunological and sometimes genetic diagnostic investigations must be carried out. The first level investigations, 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 investigations 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 correct interpretation”.
Collaboration between Patient Associations and Institutions
Finally, collaboration between Patient Associations and Institutions plays a strategic role, to encourage the development of a national reference plan on PID that is able to respond to the real needs of patients and caregivers through more effective and attentive regulatory frameworks. to the needs of the patient and the formalization and dissemination of good practices. Starting with an early diagnosis.
“Living with a primary immunodeficiency is living while waiting – comments Filippo Cristoferi, Head of External Affairs – Institutional Relations Aip Odv (Primary Immunodeficiencies Association) – “Waiting for a personalized diagnosis, for adequate and timely therapy, for a path to ‘integral’ load. Waiting with you, there is family and caregivers, who offer protection and assistance, you need others, you depend, you seek company. We experience a journey together. Difficult and adventurous.”
It is therefore necessary 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 succeed to better 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.
