INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry
- Autori: Papa R.; Lane T.; Minden K.; Touitou I.; Cantarini L.; Cattalini M.; Obici L.; Jansson A.F.; Belot A.; Frenkel J.; Anton J.; Wolska-Kusnierz B.; Berendes R.; Remesal A.; Jelusic M.; Hoppenreijs E.; Espada G.; Nikishina I.; Maggio M.C.; Bovis F.; Masini M.; Youngstein T.; Rezk T.; Papadopoulou C.; Brogan P.A.; Hawkins P.N.; Woo P.; Ruperto N.; Gattorno M.; Lachmann H.J.
- Anno di pubblicazione: 2021
- Tipologia: Articolo in rivista
- OA Link: http://hdl.handle.net/10447/582813
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 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.