The background. The PID Early Diagnosis (PED) project is an international initiative entirely born from, led and implemented by clinicians, finalised at anticipating the diagnosis and improving the quality of treatment for PID (Primary Immunodeficiency Diseases) affected patients. PID are over 400 rare chronic immune system disorders, which are too often undiagnosed or misdiagnosed, leading to a progressive development of recurrent and severe infections, autoimmune phenomena and malignancies leading to chronic organ damage. Data currently available from the European Society for Immunodeficiency (ESID) show that 28,000 people are affected by PID in Europe, the diagnostic delay is estimated to an average of 8.8 years and only 10 – 30% of people with PID is currently diagnosed worldwide. In line with the newborn screening universal programme, we aim at shortening the diagnosis delay for PID.
Aim and relevance of the initiative. This project wants to work on the design of a clear and efficient patient pathway for PID diseases focusing on the screening, pre-diagnosis and diagnosis phases, to reduce the delay in the diagnosis as much as possible and start appropriate treatment as timely as possible. This project will achieve several positive outcomes, including a drastic reduction of mortality due to comorbidities, which today has a P-value of 0.96 for enteropathy, 0.89 for autoimmune cytopenia and 0.63 for bronchiectasis, and at the same time an improvement in patients’ and their families’ quality of life. Better quality of life means fewer afflictions for patients and fewer complications with the possibility for patients to follow an ad-hoc therapeutic plan at home.
Methods, size & scope and results. The project works in IPUs composed by the key clinicians involved in the patient pathway locally (among the others, an immunologist as project leader, GPs, paediatricians, a pulmonologist, a representative of the laboratories of analysis, an otolaryngologist, a haematologist, nurses and healthcare professionals) and patient representatives. These key figures (together) will design a pathway that allows the elimination of a number of unnecessary exams and anticipates the diagnosis of PIDs. Our team started the project in Marche region, Italy, in 2018 and is scaling up nationally and internationally as colleagues recognise a successful and efficient methodology, which results in clinically significant and economically sustainable outcomes. For instance, The PID Early Diagnosis project has now initiated a number of partnerships with other national and European hospitals, such as the Azienda Ospedaliera Ordine Mauriziano di Torino, Italy, Hospital Universitari Vall d’Hebron, Catalonia, Spain, Ghent University Hospital, Belgium, which have just started re-proposing the same methodology locally. We have constituted a clinical steering committee composed by the project leaders of each local initiative, which periodically share results and experiences to nourish a continuous learning cycle. At the same time, we have also developed a computer-based algorithm for PID screening, PIDCAP, which uses modified classic warning signs to improve PID detection in primary care settings besides increasing its awareness throughout GPs and paediatricians. In addition, an online educational tool will be launched by all project leaders inspired by the current available website in Belgium (www.vaakziek.be).