THU0607 Autoinflammatory syndromes: clinical and genetic characterisation of a cohort of adult patients in a single reference centre
Authors: A. Ruiz Roman, S. Garcia Morillo, M.A. Montes Cano, M. Lisbona Muñoz, C. Aguilera Cros, A. Muñoz Jimenez, E. Rubio Romero
Journal: Annals of the Rheumatic Diseases (2018)

<h3>Background</h3> Autoinflammatory syndromes are diseases that are characterised by increased inflammation mediated by cells and molecules of the innate immune system. Currently, new techniques have been developed that allow earlier diagnosis and treatment of these pathologies. <h3>Objectives</h3> Describe the clinical characteristics, genetic variants of different autoinflammatory diseases of a cohort of adult patients with follow-up in a 3rd level hospital <h3>Methods</h3> We carried out a descriptive cross-sectional study of adult patients with follow-up in reference hospital consultations with suspicion and/or diagnosis of autoinflammatory disease. Clinical, demographic, and treatment variables were characterised. A descriptive analysis was carried out by subgroup of pathology. The qualitative variables were expressed in frequency and percentages and the quantitative variables in median and interquartile range (IQR). The statistical software IBM SPSS v.18 was used for the analysis <h3>Results</h3> A total of 51 patients were included, 31 women (60.8%). Overall, the median age at diagnosis was 28 years (RI 15–40). The most used treatment was colchicine (60.8%), steroids (43.1%), FAMES (21.6%), anti IL-1 (17.6%). By subgroup of pathologies the most prevalent with 31 cases (60.78%), 16 women (51.6%) was familial Mediterranean fever (FMF) presenting 15 patients (48.4%) pathogenic mutations, 8 patients (25, 8%) low penetrance mutations and the rest (25.8%) genetic polymorphisms. The median age at diagnosis was 30.6 years (IQR16–44). The most common symptoms were fatigue (80.6%), acute phase reactants (APR) elevation (71%), fever and myalgias (67.7%), arthralgias (64%), abdominal pain (48.4%)), rash (31%), arthritis (29%), lymphadenopathy (29%), serositis (12.9%) With regard to TRAPS, 10 patients were diagnosed (19.6%), 7 women (70%), with a median age at diagnosis of 26.5 years (IQR 15–31.5). The most common symptoms were arthralgias, fatigue and myalgias (90%) with elevated APR, fever (80%), abdominal pain (70%), rash (60%) and arthritis (50%). There were 2 cases of women (4%) with Schnitzler syndrome, with arthritis symptoms, elevated APR and chest pain (in 1 case). There were 6 cases (11.8%) of disease associated with NOD 2 gene with a median age at diagnosis of 30 years (IQR 12.5–40), 4 were women (66.7%). The most common symptoms were arthralgias, fever and myalgias (83.3%) with increased APR, arthritis (66.7%), abdominal pain, oral thrush and rash (66.7%). In the disease associated with NLRP12 gene there were 2 cases (3.9%), both cases were women. The most common symptoms were arthralgias, arthritis, fever, fatigue, increased APR and serositis (in one case). There was a case of sickness associated with the NLRP3 gene (cryopyrinopathy) (2%) in a woman with fever and refractory pyoderma gangrenosum and another woman with a diagnosis of Muckle-Wells (2%) with clinical signs of deafness since childhood, conjunctivitis, fever and arthritis. There was a case of PFAPA (2%) in a woman with fever, pharyngitis, rash and lymphadenopathy. <h3>Conclusions</h3> In our series, the most frequent pathology was FMF followed by TRAPS. The most prevalent symptoms were systemic manifestations (fever, fatigue, APR elevation) and musculoskeletal manifestations. <h3>Disclosure of Interest</h3> None declared