P61 An innovative multi-speciality clinic for patients with autoinflammatory conditions

Abstract

Abstract Background Systemic autoinflammatory diseases (SAIDs) are rare, complex, and can often be debilitating. Establishing clinical and genetic diagnoses is equally complex and lengthy, causing significant stress to children and families. Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) recommendations emphasise the importance of access to genetic expertise alongside a tertiary paediatric rheumatology multidisciplinary team. Methods We established a 2-monthly combined clinic for children with diagnosed and suspected autoinflammatory conditions at Birmingham Children’s Hospital (BCH). These are run by a consultant paediatric rheumatologist with special interest in unexplained periodic fever syndromes and autoinflammatory disorders, in collaboration with a consultant clinical geneticist interested in genetic causes for autoinflammation. The BCH paediatric rheumatology department operates a truly multidisciplinary approach with a collocated team. This allows ease of access to clinical nurse specialists, physiotherapy and occupational therapy, as well as effective provision of transitional care, a dedicated research nurse and research coordinator. To avoid multiple appointments and delays in diagnosis, upon receiving referrals for possible SAIDs, a standardised letter along with fever diary, blood forms and instructions for examining clinicians is sent to patients and the referring clinician. In establishing fevers and fever-patterns, possible evidence of inflammation and exclusion of infection prior to initial assessment, the process is streamlined and appointments reduced. A multi-speciality assessment with paediatric rheumatology and genetics is conducted, collaborating with immunology and other appropriate specialists. If SAID is suspected, appropriate panel testing is arranged, followed by whole exome sequencing if results are inconclusive. Patients are also recruited to national and international research studies if relevant, including BCH Rare diseases centre Stars Together Registry & NIHR BioResource rare diseases studies. Results In the past 3 years, the service has seen 96 new patients. Current patients have a variety of diagnoses, including: cryopyrin-associated periodic syndrome (CAPS)(NLRP3 mutations), familial Mediterranean fever (FMF) , TNF receptor-associated periodic syndrome (TRAPS), PFAPA (Periodic Fever, Aphthous stomatitis, Pharyngitis, Adenitis), ADA2 mutation, NOD-2 mutation, Otulin-related autoinflammatory syndrome (ORAS), Aicardi-Goutieres syndrome (AGS), DNASE1L3 mutation, complement factor I deficiency, C2 deficiency, SLC29A3 mutation, Bechet’s disease and undifferentiated SAIDs. This does not include patients who have primary immunodeficiencies, non-inflammatory vasculopathies or other SAID mimics. Drug therapies include: NSAIDs, short-term corticosteroids, Colchicine, Infliximab, Tocilizumab, Methotrexate, Adalimumab, Mycophenolate mofetil (MMF), Ruxolitinib and Anakinra, all supported by clinical nurse specialists. Conclusion This cohesive service provides single-point access to multidisciplinary paediatric rheumatology and genetics, along with national and international high quality research. A unified approach avoids the need for multiple appointments, allowing prompter diagnosis, initiation of appropriate treatment, and potentially earlier disease control. This aims to prevent disease-related damage, working towards optimal support for families and improving quality of life. A dedicated multi-speciality clinic also provides excellent training opportunities, both between specialities and for junior trainees. Conflicts of Interest The authors declare no conflicts of interest.