FRI0537 LONG-TERM OUTCOMES AND TREATMENT EFFICACY IN PATIENTS WITH TNF RECEPTOR-ASSOCIATED AUTOINFLAMMATORY SYNDROME (TRAPS): A SERIES OF 290 CASES FROM THE EUROFEVER/EUROTRAPS INTERNATIONAL REGISTRY
Authors: Riccardo Papa, Thirusha Lane, Taryn Youngstein, Tamer Rezk, Charalampia Papadopoulou, Nicolino Ruperto, Paul Brogan, Philip N. Hawkins, Patricia Woo, Marco Gattorno, Helen J. Lachmann
Journal: Annals of the Rheumatic Diseases (2019)

<h3>Background</h3> Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is one of the best known monogenic auto-inflammatory disorder resulting from an autosomal dominant variation in the TNF super family receptor 1A (<i>TNFRSF1A</i>) gene. <h3>Objectives</h3> To define best treatment approach in patients with TRAPS and effect on long-term outcomes. <h3>Methods</h3> We reviewed all data on patients with <i>TNFRSF1A</i> variants enrolled in the Eurofever/EUROTRAPS international registry. <h3>Results</h3> Data on 290 patients were available. Patients with R92Q, P46L or intronic variants (49%) displayed milder disease than 147 patients with mutations affecting other coding regions, with less frequent abdominal pain and skin rashes (P&lt;0.01), higher efficacy rate of colchicine as maintenance treatment, and none developed AA amyloidosis. Almost 90% of patients with exon mutations required maintenance therapy. Anti-interleukin (IL) 1β drugs were the most frequently used (47 patients), with the highest efficacy rate (&gt;90% complete response), while Etanercept was less effectively used and discontinued in 72% of patients. No patients on anti-IL1β treatment developed amyloidosis and 10 patients with amyloidosis have been successfully treated with anti IL-1 agents with preservation of native renal function in 7 and excellent long-term transplant function in 2. Nine women had a history of failure to conceive and seven had successful pregnancies without fertility treatment following complete disease control with anti-IL1β drugs. Long term safety profiles for anti IL-1 agents were excellent even in the presence of comorbidity. <h3>Conclusion</h3> Anti-IL1β drugs are the best maintenance treatment in TRAPS with potential to reverse the most serious disease complications of AA amyloidosis and infertility. The diagnosis of TRAPS should be considered very carefully in patients carrying R92Q, P46L or intronic <i>TNFRSF1A</i> variants. <h3>References</h3> [1] Lachmann HJ, Papa R, Gerhold K, Obici L, Touitou I, Cantarini L, et al. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Annals of the rheumatic diseases. 2014;73(12):2160-7. [2] Papa R, Doglio M, Lachmann HJ, Ozen S, Frenkel J, Simon A, et al. A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry. Orphanet Journal of Rare Diseases. 2017;12(1):16. [3] Papa R, Lachmann HJ. Secondary, AA, Amyloidosis. Rheum Dis Clin North Am. 2018;44(4):585–603. <h3>Acknowledgement</h3> The presenting author would like to thank the European Federation of Immunology (EFIS) for the short term fellowship bursary. <h3>Disclosure of Interests</h3> Riccardo Papa: None declared, Thirusha Lane: None declared, Taryn Youngstein: None declared, Tamer Rezk: None declared, Charalampia Papadopoulou: None declared, Nicolino Ruperto Grant/research support from: The Gaslini Hospital, where NR works as full-time public employee, has received contributions (&gt; 10.000 USD each) from the following industries in the last 3 years: BMS, Eli-Lilly, GlaxoSmithKline, F Hoffmann-La Roche, Janssen, Novartis, Pfizer, Sobi. This funding has been reinvested for the research activities of the hospital in a fully independent manner, without any commitment with third parties., Consultant for: Received honoraria for consultancies or speaker bureaus (&lt; 10.000 USD each) from the following pharmaceutical companies in the past 3 years: Ablynx, AbbVie, Astrazeneca-Medimmune, Biogen, Boehringer, Bristol-Myers Squibb, Eli-Lilly, EMD Serono, GlaxoSmithKline, Hoffmann-La Roche, Janssen, Merck, Novartis, Pfizer, R-Pharma, SanofiServier, Sinergie, Sobi and Takeda., Speakers bureau: Received honoraria for consultancies or speaker bureaus (&lt; 10.000 USD each) from the following pharmaceutical companies in the past 3 years: Ablynx, AbbVie, Astrazeneca-Medimmune, Biogen, Boehringer, Bristol-Myers Squibb, Eli-Lilly, EMD Serono, GlaxoSmithKline, Hoffmann-La Roche, Janssen, Merck, Novartis, Pfizer, R-Pharma, SanofiServier, Sinergie, Sobi and Takeda., Paul Brogan Grant/research support from: SOBI, Novartis, Roche, Novimmune, Chemocentryx, Consultant for: Roche, SOBI, Speakers bureau: SOBI, Roche, Novartis, UCB, Philip N Hawkins: None declared, Patricia Woo: None declared, Marco Gattorno Grant/research support from: MG has received unrestricted grants from Sobi and Novartis, Helen J. Lachmann Grant/research support from: SOBI, Novartis, Consultant for: Novartis, Takeda, Speakers bureau: SOBI. Novartis