Papa, R;
Lane, T;
Minden, K;
Touitou, I;
Cantarini, L;
Cattalini, M;
Obici, L;
... Pediatric Rheumatology International Trials Organization (PRINTO; + view all
(2021)
INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry.
The Journal of Allergy and Clinical Immunology: In Practice
, 9
(2)
783-791.e4.
10.1016/j.jaip.2020.10.053.
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Abstract
Background: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNFRSF1A gene. Data regarding long-term treatment outcomes is lacking. / Objective: To assess correlations of genotype-phenotypes in TRAPS patients, 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 INSAID classification in group A (pathogenic or likely pathogenic variants), B (VUS or not classified variants), and C (benign or likely benign variants) and screened for Eurofever criteria. / Results: In group A (127/226 patients, 56%), all fulfilled Eurofever criteria and 20/127 patients (16%) developed AA amyloidosis. In group B (78/226 patients, 35%), 40/78 patients (51%) did not fulfill Eurofever criteria, displaying a lower incidence of abdominal pain (p<0.02) and higher efficacy rate of on-demand NSAIDs (p<0.02) and colchicine (p<0.001). Group C (21/226 patients, 9%) presented a milder disease (p<0.02) and none fulfilled Eurofever criteria. Anti-interleukin (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 seven women with history of failure to conceive had successful pregnancies. / Conclusion: Anti-IL-1 drugs are the best maintenance treatment in TRAPS patients. The diagnosis of TRAPS should be considered very carefully in patients of group B not fulfilling Eurofever criteria and C, and colchicine may be preferable as first maintenance treatment.
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