THU0582\u2005THE TNF RECEPTOR-ASSOCIATED PERIODIC SYNDROME (TRAPS): CLINICAL AND GENETIC CHARACTERIZATION OF A COHORT OF ADULTS DIAGNOSED OF TRAPS SYNDROME

Abstract

Background: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a disease that is included within of hereditary syndromes of periodic fever. It presents an autosomal dominant pattern of inheritance. It’s due to mutations of TNFRSF1A gene. It is usually present in childhood although it can also appear in adulthood and it tends to cause high levels of acute phase reactants, fever, musculoskeletal symptoms (myalgias, arthralgias, arthritis), rash, abdominal pain, etc Objectives: To describe the clinical characteristics and genetic variants of patients diagnosed with TRAPS syndrome in a cohort of patients with autoinflammatory syndromes with follow-up in a tertiary hospital from 2013 to the present Methods: Retrospective descriptive study of adult patients diagnosed with autoinflammatory syndrome since 2013 (year of introduction of genetic tests in the hospital laboratory) until now. The data was obtained from the review of medical records. All patients with mutations in TNRFSF1A gene and clinically compatible with this diagnosis were reviewed Results: Of a total of 44 adult patients diagnosed with hereditary syndromes of periodic fever (FMF, TRAPS, cryopyrinopathies, HIDS) and compatible genetic mutations (excluding polymorphisms), 13 (29.5%) presented mutations in the TNFRSF1A gene. Of those 13 patients, 9 (69.2%) were women. The most frequent mutations were the mutation in heterozygosis in exon 4 (p.R92Q) with 12 cases (92.3%) and one case (7.6%) with mutation in heterozygosis in exon 3 (p.P46L). The mean age at diagnosis was 27.92 years (IR 12-55 years). 5 patients showed simultaneous genetic variants in other genes related to autoinflammatory syndromes. Signs and/or symptoms were myalgia and elevation of acute-phase reactants with 12 patients (86%) followed by fever and joint symptoms (arthralgias and/or arthritis) with 11 patients (79%) were the most frequent. 2 patients (14%) had conjunctivitis. 9 patients (64%) presented cutaneous involvement. 2 cases (14%) presented lymphadenopathy. Regarding treatment, 5 patients (36%) had received treatment with biological therapy (anti-IL-1 or anti-TNF) and another 5 patients (36%) had used colchicine. The corticoids were used in 6 patients (43%) Conclusion: The TRAPS syndrome is a clinical entity to consider when making a differential diagnosis in patients with suspected autoinflammatory syndrome, that present fever, acute phase reactants elevation, arthromyalgia and its confirmation diagnosis is with genetic test Disclosure of Interests: None declared