INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry
Pediatric Rheumatology International Trials Organization (PRINTO), the EUROTRAPS, and the Eurofever Project
(2021) The journal of allergy and clinical immunology. In practice, volume 9, issue 2, pp. 783 - 791.e4
(Article)
Abstract
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
... read more
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.
show less
Download/Full Text
The full text of this publication is not available.
Keywords: AA amyloidosis, Anakinra, Autoinflammatory diseases, Colchicine, TRAPS, Immunology and Allergy, Journal Article
ISSN: 2213-2201
Note: 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.
(Peer reviewed)