TY - JOUR
T1 - INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS
T2 - Data from the Eurofever Registry
AU - Papa, Riccardo
AU - Lane, Thirusha
AU - Minden, Kirsten
AU - Touitou, Isabelle
AU - Cantarini, Luca
AU - Cattalini, Marco
AU - Obici, Laura
AU - Jansson, Annette F
AU - Belot, Alexandre
AU - Frenkel, Joost
AU - Anton, Jordi
AU - Wolska-Kusnierz, Beata
AU - Berendes, Rainer
AU - Remesal, Agustin
AU - Jelusic, Marija
AU - Hoppenreijs, Esther
AU - Espada, Graciela
AU - Nikishina, Irina
AU - Maggio, Maria Cristina
AU - Bovis, Francesca
AU - Masini, Marta
AU - Youngstein, Taryn
AU - Rezk, Tamer
AU - Papadopoulou, Charalampia
AU - Brogan, Paul A
AU - Hawkins, Philip N
AU - Woo, Patricia
AU - Ruperto, Nicolino
AU - Gattorno, Marco
AU - Lachmann, Helen J
N1 - Funding Information:
Unrestricted research grants to Eurofever were kindly provided by Sobi and Novartis . The project has been supported by E-Rare-3 project (INSAID, grant 003037603 ), Executive Agency for Health and Consumers of the European Union (EAHC, Projects 2007332 and 200923 ; https://www.printo.it/eurofever/index.asp ), and by Coordination Theme 1 (Health) of the European Community's FP7 (grant agreement HEALTH-F2-2008-200923 ; https://cordis.europa.eu/project/id/200923 ). Several authors of this publication are members of the European Reference Network for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (ERN RITA, Project ID No 739543; http://rita.ern-net.eu/ ). Unrestricted educational grants were also kindly provided by PRINTO and Novartis . The abstract of the present study has been presented at the Federation of Clinical Immunology Societies (FOCIS) 2020 Annual Meeting in San Francisco, California (abstract ID 820646).
Funding Information:
Unrestricted research grants to Eurofever were kindly provided by Sobi and Novartis. The project has been supported by E-Rare-3 project (INSAID, grant 003037603), Executive Agency for Health and Consumers of the European Union (EAHC, Projects 2007332 and 200923; https://www.printo.it/eurofever/index.asp), and by Coordination Theme 1 (Health) of the European Community's FP7 (grant agreement HEALTH-F2-2008-200923; https://cordis.europa.eu/project/id/200923). Several authors of this publication are members of the European Reference Network for Rare Immunodeficiency, Autoinflammatory, and Autoimmune Diseases (ERN RITA, Project ID No 739543; http://rita.ern-net.eu/). Unrestricted educational grants were also kindly provided by PRINTO and Novartis. The abstract of the present study has been presented at the Federation of Clinical Immunology Societies (FOCIS) 2020 Annual Meeting in San Francisco, California (abstract ID 820646).R. Papa would like to thank HJL for her continuous support and guidance during the fellowship at the National Amyloidosis Centre in London and the European Federation of Immunological Societies (EFIS) for the short-term bursary 2018.
Publisher Copyright:
© 2020 American Academy of Allergy, Asthma & Immunology
Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/2
Y1 - 2021/2
N2 - BACKGROUND: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are lacking.OBJECTIVE: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) classification and Eurofever criteria, with treatment responses.METHODS: Data from 226 patients with variants of the TNFRSF1A gene and enrolled in the Eurofever registry were classified according to the INSAID classification in groups A (pathogenic or likely pathogenic variants), B (variants of uncertain significance or not classified variants), and C (benign or likely benign variants) and screened for Eurofever criteria.RESULTS: In group A (127 of 226 patients, 56%), all fulfilled Eurofever criteria and 20 of 127 patients (16%) developed AA amyloidosis. In group B (78 of 226 patients, 35%), 40 of 78 patients (51%) did not fulfill Eurofever criteria, displaying a lower incidence of abdominal pain (P < .02) and higher efficacy rate of on-demand nonsteroidal anti-inflammatory drugs (P < .02) and colchicine (P < .001). Group C (21 of 226 patients, 9%) presented a milder disease (P < .02) and none fulfilled Eurofever criteria. Anti-IL-1 drugs were the most frequently used in patients fulfilling Eurofever criteria, with the highest efficacy rate (>85% complete response). No patients on anti-IL-1 treatments developed AA amyloidosis, and 7 women with a history of failure to conceive had successful pregnancies.CONCLUSION: Anti-IL-1 drugs are the best maintenance treatment in patients with TRAPS. The diagnosis of TRAPS should be considered very carefully in patients of group B not fulfilling Eurofever criteria and group C, and colchicine may be preferable as the first maintenance treatment.
AB - BACKGROUND: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are lacking.OBJECTIVE: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) classification and Eurofever criteria, with treatment responses.METHODS: Data from 226 patients with variants of the TNFRSF1A gene and enrolled in the Eurofever registry were classified according to the INSAID classification in groups A (pathogenic or likely pathogenic variants), B (variants of uncertain significance or not classified variants), and C (benign or likely benign variants) and screened for Eurofever criteria.RESULTS: In group A (127 of 226 patients, 56%), all fulfilled Eurofever criteria and 20 of 127 patients (16%) developed AA amyloidosis. In group B (78 of 226 patients, 35%), 40 of 78 patients (51%) did not fulfill Eurofever criteria, displaying a lower incidence of abdominal pain (P < .02) and higher efficacy rate of on-demand nonsteroidal anti-inflammatory drugs (P < .02) and colchicine (P < .001). Group C (21 of 226 patients, 9%) presented a milder disease (P < .02) and none fulfilled Eurofever criteria. Anti-IL-1 drugs were the most frequently used in patients fulfilling Eurofever criteria, with the highest efficacy rate (>85% complete response). No patients on anti-IL-1 treatments developed AA amyloidosis, and 7 women with a history of failure to conceive had successful pregnancies.CONCLUSION: Anti-IL-1 drugs are the best maintenance treatment in patients with TRAPS. The diagnosis of TRAPS should be considered very carefully in patients of group B not fulfilling Eurofever criteria and group C, and colchicine may be preferable as the first maintenance treatment.
KW - AA amyloidosis
KW - Anakinra
KW - Autoinflammatory diseases
KW - Colchicine
KW - TRAPS
UR - http://www.scopus.com/inward/record.url?scp=85098657898&partnerID=8YFLogxK
U2 - 10.1016/j.jaip.2020.10.053
DO - 10.1016/j.jaip.2020.10.053
M3 - Article
C2 - 33181346
VL - 9
SP - 783-791.e4
JO - The journal of allergy and clinical immunology. In practice
JF - The journal of allergy and clinical immunology. In practice
IS - 2
ER -