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 journalArticle

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

Fingerprint

mevalonate kinase
Fever
Tumor Necrosis Factor Receptors
Mevalonate Kinase Deficiency
Cryopyrin-Associated Periodic Syndromes
Familial Mediterranean Fever
Disease control
Lymphadenitis
Pharyngitis
Multivariate Analysis
Sensitivity and Specificity
Inborn Genetic Diseases
ROC Curve
Area Under Curve
Registries

ASJC Scopus subject areas

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

Cite this

Federici, S., Sormani, M. P., Ozen, S., Lachmann, H. J., Amaryan, G., Woo, P., ... Bou, R. (2015). Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Annals of the Rheumatic Diseases, 74(5), 799-805. https://doi.org/10.1136/annrheumdis-2014-206580

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

In: Annals of the Rheumatic Diseases, Vol. 74, No. 5, 01.05.2015, p. 799-805.

Research output: Contribution to journalArticle

Federici, S, Sormani, MP, Ozen, S, Lachmann, HJ, Amaryan, G, Woo, P, Koné-Paut, I, Dewarrat, N, Cantarini, L, Insalaco, A, Uziel, Y, Rigante, D, Quartier, P, Demirkaya, E, Herlin, T, Meini, A, Fabio, G, Kallinich, T, Martino, S, Butbul, AY, Olivieri, A, Kuemmerle-Deschner, J, Neven, B, Simon, A, Ozdogan, H, Touitou, I, Frenkel, J, Hofer, M, Martini, A, Ruperto, N, Gattorno, M, Espada, G, Russo, R, De Cunto, C, Boros, C, Borzutzky, A, Jelusic-Drazic, M, Dolezalova, P, Nielsen, S, Hentgen, V, Schwarz, T, Berendes, R, Jansson, A, Horneff, G, Papadopoulou-Alataki, E, Tsitsami, E, Tsakalidou, FK, Gallizzi, R, Obici, L, Barone, P, Cimaz, R, Alessio, M, Nishikomori, R, Stanevicha, V, Hoppenreijs, E, Wolska-Kusnierz, B, Iagaru, N, Nikishina, I, Al-Mayouf, SM, Sewairi, NV, Susic, G, Toplak, N, Modesto, C, Elorduy, MJR, Anton, J & Bou, R 2015, 'Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers', Annals of the Rheumatic Diseases, vol. 74, no. 5, pp. 799-805. https://doi.org/10.1136/annrheumdis-2014-206580
Federici, Silvia ; Sormani, Maria Pia ; Ozen, Seza ; Lachmann, Helen J. ; Amaryan, Gayane ; Woo, Patricia ; Koné-Paut, Isabelle ; Dewarrat, Natacha ; Cantarini, Luca ; Insalaco, Antonella ; Uziel, Yosef ; Rigante, Donato ; Quartier, Pierre ; Demirkaya, Erkan ; Herlin, Troels ; Meini, Antonella ; Fabio, Giovanna ; Kallinich, Tilmann ; Martino, Silvana ; Butbul, Aviel Yonatan ; Olivieri, Alma ; Kuemmerle-Deschner, Jasmin ; Neven, Benedicte ; Simon, Anna ; Ozdogan, Huri ; Touitou, Isabelle ; Frenkel, Joost ; Hofer, Michael ; Martini, Alberto ; Ruperto, Nicolino ; Gattorno, Marco ; Espada, Graciela ; Russo, Ricardo ; De Cunto, Carmen ; Boros, Christina ; Borzutzky, Arturo ; Jelusic-Drazic, Marija ; Dolezalova, Pavla ; Nielsen, Susan ; Hentgen, Veronique ; Schwarz, Tobias ; Berendes, Rainer ; Jansson, Annette ; Horneff, Gerd ; Papadopoulou-Alataki, Efimia ; Tsitsami, Elena ; Tsakalidou, Florence Kanakoudi ; Gallizzi, Romina ; Obici, Laura ; Barone, Patrizia ; Cimaz, Rolando ; Alessio, Mariolina ; Nishikomori, Ryuta ; Stanevicha, Valda ; Hoppenreijs, Esther ; Wolska-Kusnierz, Beata ; Iagaru, Nicolae ; Nikishina, Irina ; Al-Mayouf, Sulaiman M. ; Sewairi, [No Value] ; Susic, Gordana ; Toplak, Natasa ; Modesto, Consuelo ; Elorduy, Maria Jesus Rua ; Anton, Jordi ; Bou, Rosa. / Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. In: Annals of the Rheumatic Diseases. 2015 ; Vol. 74, No. 5. pp. 799-805.
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T1 - Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

AU - Federici, Silvia

AU - Sormani, Maria Pia

AU - Ozen, Seza

AU - Lachmann, Helen J.

AU - Amaryan, Gayane

AU - Woo, Patricia

AU - Koné-Paut, Isabelle

AU - Dewarrat, Natacha

AU - Cantarini, Luca

AU - Insalaco, Antonella

AU - Uziel, Yosef

AU - Rigante, Donato

AU - Quartier, Pierre

AU - Demirkaya, Erkan

AU - Herlin, Troels

AU - Meini, Antonella

AU - Fabio, Giovanna

AU - Kallinich, Tilmann

AU - Martino, Silvana

AU - Butbul, Aviel Yonatan

AU - Olivieri, Alma

AU - Kuemmerle-Deschner, Jasmin

AU - Neven, Benedicte

AU - Simon, Anna

AU - Ozdogan, Huri

AU - Touitou, Isabelle

AU - Frenkel, Joost

AU - Hofer, Michael

AU - Martini, Alberto

AU - Ruperto, Nicolino

AU - Gattorno, Marco

AU - Espada, Graciela

AU - Russo, Ricardo

AU - De Cunto, Carmen

AU - Boros, Christina

AU - Borzutzky, Arturo

AU - Jelusic-Drazic, Marija

AU - Dolezalova, Pavla

AU - Nielsen, Susan

AU - Hentgen, Veronique

AU - Schwarz, Tobias

AU - Berendes, Rainer

AU - Jansson, Annette

AU - Horneff, Gerd

AU - Papadopoulou-Alataki, Efimia

AU - Tsitsami, Elena

AU - Tsakalidou, Florence Kanakoudi

AU - Gallizzi, Romina

AU - Obici, Laura

AU - Barone, Patrizia

AU - Cimaz, Rolando

AU - Alessio, Mariolina

AU - Nishikomori, Ryuta

AU - Stanevicha, Valda

AU - Hoppenreijs, Esther

AU - Wolska-Kusnierz, Beata

AU - Iagaru, Nicolae

AU - Nikishina, Irina

AU - Al-Mayouf, Sulaiman M.

AU - Sewairi, [No Value]

AU - Susic, Gordana

AU - Toplak, Natasa

AU - Modesto, Consuelo

AU - Elorduy, Maria Jesus Rua

AU - Anton, Jordi

AU - Bou, Rosa

PY - 2015/5/1

Y1 - 2015/5/1

N2 - 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.

AB - 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.

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