INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry

Papa, Riccardo; Lane, Thirusha; Minden, Kirsten; Touitou, Isabelle; Cantarini, Luca; Cattalini, Marco; Obici, Laura; Jansson, Annette F.; Belot, Alexandre; Frenkel, Joost; Anton, Jordi; Wolska-Kusnierz, Beata; Berendes, Rainer; Remesal, Agustin; Remesal, Agustin; Jelusic, Marija; Hoppenreijs, Esther; Espada, Graciela; Nikishina, Irina; Maggio, Maria Cristina; Bovis, Francesca; Masini, Marta; Youngstein, Taryn; Rezk, Tamer; Papadopoulou, Charalampia; Brogan, Paul A.; Hawkins, Philip N.; Woo, Patricia; Ruperto, Nicolino; Gattorno, Marco und Lachmann, Helen J. (2021): INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry. In: Journal of Allergy and Clinical Immunology-in Practice, Bd. 9, Nr. 2: S. 783-791

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. (C) 2020 American Academy of Allergy, Asthma & Immunology.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 2213-2198
• Sprache: Englisch