Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Silvia Federici, Maria Pia Sormani, Seza Ozen, Helen J. Lachmann, Gayane Amaryan, Patricia Woo, Isabelle Koné-Paut, Natacha Dewarrat, Luca Cantarini, Antonella Insalaco, Yosef Uziel, Donato Rigante, Pierre Quartier, Erkan Demirkaya, Troels Herlin, Antonella Meini, Giovanna Fabio, Tilmann Kallinich, Silvana Martino, Aviel Yonatan ButbulAlma Olivieri, Jasmin Kuemmerle-Deschner, Benedicte Neven, Anna Simon, Huri Ozdogan, Isabelle Touitou, Joost Frenkel, Michael Hofer, Alberto Martini, Nicolino Ruperto, Marco Gattorno, Graciela Espada, Ricardo Russo, Carmen De Cunto, Christina Boros, Arturo Borzutzky, Marija Jelusic-Drazic, Pavla Dolezalova, Susan Nielsen, Veronique Hentgen, Tobias Schwarz, Rainer Berendes, Annette Jansson, Gerd Horneff, Efimia Papadopoulou-Alataki, Elena Tsitsami, Florence Kanakoudi Tsakalidou, Romina Gallizzi, Laura Obici, Patrizia Barone, Rolando Cimaz, Mariolina Alessio, Ryuta Nishikomori, Valda Stanevicha, Esther Hoppenreijs, Beata Wolska-Kusnierz, Nicolae Iagaru, Irina Nikishina, Sulaiman M. Al-Mayouf, [No Value] Sewairi, Gordana Susic, Natasa Toplak, Consuelo Modesto, Maria Jesus Rua Elorduy, Jordi Anton, Rosa Bou

Research output: Contribution to journalArticlepeer-review

Abstract

The objective of this work was to develop and validate a set of clinical criteria for the classification of patients affected by periodic fevers. Patients with inherited periodic fevers (familial Mediterranean fever (FMF); mevalonate kinase deficiency (MKD); tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS); cryopyrin-associated periodic syndromes (CAPS)) enrolled in the Eurofever Registry up until March 2013 were evaluated. Patients with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome were used as negative controls. For each genetic disease, patients were considered to be 'gold standard' on the basis of the presence of a confirmatory genetic analysis. Clinical criteria were formulated on the basis of univariate and multivariate analysis in an initial group of patients (training set) and validated in an independent set of patients (validation set). A total of 1215 consecutive patients with periodic fevers were identified, and 518 gold standard patients (291 FMF, 74 MKD, 86 TRAPS, 67 CAPS) and 199 patients with PFAPA as disease controls were evaluated. The univariate and multivariate analyses identified a number of clinical variables that correlated independently with each disease, and four provisional classification scores were created. Cut-off values of the classification scores were chosen using receiver operating characteristic curve analysis as those giving the highest sensitivity and specificity. The classification scores were then tested in an independent set of patients (validation set) with an area under the curve of 0.98 for FMF, 0.95 for TRAPS, 0.96 for MKD, and 0.99 for CAPS. In conclusion, evidence-based provisional clinical criteria with high sensitivity and specificity for the clinical classification of patients with inherited periodic fevers have been developed.

Original languageEnglish
Pages (from-to)799-805
Number of pages7
JournalAnnals of the Rheumatic Diseases
Volume74
Issue number5
DOIs
Publication statusPublished - May 1 2015

ASJC Scopus subject areas

  • Rheumatology
  • Immunology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Allergy

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