Classification criteria for autoinflammatory recurrent fevers

Marco Gattorno, Michael Hofer, Silvia Federici, Federica Vanoni, Francesca Bovis, Ivona Aksentijevich, Jordi Anton, Juan Ignacio Arostegui, Karyl Barron, Eldad Ben-Cherit, Paul A Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenkel, Raphaela Goldbach-Mansky, Ahmet Gul, Veronique HentgenHal Hoffman, Tilmann Kallinich, Isabelle Kone-Paut, Jasmin Kuemmerle-Deschner, Helen J Lachmann, Ronald M Laxer, Avi Livneh, Laura Obici, Seza Ozen, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Nataša Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Dirk Foell, Claudia Garassino, Dan Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD) and cryopyrin-associated periodic syndromes (CAPS)-and for the non-hereditary, periodic fever, aphthosis, pharyngitis and adenitis (PFAPA). We aimed to develop and validate new evidence-based classification criteria for HRF/PFAPA.

METHODS: Step 1: selection of clinical, laboratory and genetic candidate variables; step 2: classification of 360 random patients from the Eurofever Registry by a panel of 25 clinicians and 8 geneticists blinded to patients' diagnosis (consensus ≥80%); step 3: statistical analysis for the selection of the best candidate classification criteria; step 4: nominal group technique consensus conference with 33 panellists for the discussion and selection of the final classification criteria; step 5: cross-sectional validation of the novel criteria.

RESULTS: The panellists achieved consensus to classify 281 of 360 (78%) patients (32 CAPS, 36 FMF, 56 MKD, 37 PFAPA, 39 TRAPS, 81 undefined recurrent fever). Consensus was reached for two sets of criteria for each HRF, one including genetic and clinical variables, the other with clinical variables only, plus new criteria for PFAPA. The four HRF criteria demonstrated sensitivity of 0.94-1 and specificity of 0.95-1; for PFAPA, criteria sensitivity and specificity were 0.97 and 0.93, respectively. Validation of these criteria in an independent data set of 1018 patients shows a high accuracy (from 0.81 to 0.98).

CONCLUSION: Eurofever proposes a novel set of validated classification criteria for HRF and PFAPA with high sensitivity and specificity.

Original languageEnglish
JournalAnnals of the Rheumatic Diseases
DOIs
Publication statusE-pub ahead of print - Apr 24 2019

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Hereditary Autoinflammatory Diseases
Lymphadenitis
Fever
Pharyngitis
mevalonate kinase
Tumor Necrosis Factor Receptors
Mevalonate Kinase Deficiency
Cryopyrin-Associated Periodic Syndromes
Familial Mediterranean Fever
Clinical laboratories
Sensitivity and Specificity
Statistical methods
Registries

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Classification criteria for autoinflammatory recurrent fevers. / Gattorno, Marco; Hofer, Michael; Federici, Silvia; Vanoni, Federica; Bovis, Francesca; Aksentijevich, Ivona; Anton, Jordi; Arostegui, Juan Ignacio; Barron, Karyl; Ben-Cherit, Eldad; Brogan, Paul A; Cantarini, Luca; Ceccherini, Isabella; De Benedetti, Fabrizio; Dedeoglu, Fatma; Demirkaya, Erkan; Frenkel, Joost; Goldbach-Mansky, Raphaela; Gul, Ahmet; Hentgen, Veronique; Hoffman, Hal; Kallinich, Tilmann; Kone-Paut, Isabelle; Kuemmerle-Deschner, Jasmin; Lachmann, Helen J; Laxer, Ronald M; Livneh, Avi; Obici, Laura; Ozen, Seza; Rowczenio, Dorota; Russo, Ricardo; Shinar, Yael; Simon, Anna; Toplak, Nataša; Touitou, Isabelle; Uziel, Yosef; van Gijn, Marielle; Foell, Dirk; Garassino, Claudia; Kastner, Dan; Martini, Alberto; Sormani, Maria Pia; Ruperto, Nicolino.

In: Annals of the Rheumatic Diseases, 24.04.2019.

Research output: Contribution to journalArticle

Gattorno, M, Hofer, M, Federici, S, Vanoni, F, Bovis, F, Aksentijevich, I, Anton, J, Arostegui, JI, Barron, K, Ben-Cherit, E, Brogan, PA, Cantarini, L, Ceccherini, I, De Benedetti, F, Dedeoglu, F, Demirkaya, E, Frenkel, J, Goldbach-Mansky, R, Gul, A, Hentgen, V, Hoffman, H, Kallinich, T, Kone-Paut, I, Kuemmerle-Deschner, J, Lachmann, HJ, Laxer, RM, Livneh, A, Obici, L, Ozen, S, Rowczenio, D, Russo, R, Shinar, Y, Simon, A, Toplak, N, Touitou, I, Uziel, Y, van Gijn, M, Foell, D, Garassino, C, Kastner, D, Martini, A, Sormani, MP & Ruperto, N 2019, 'Classification criteria for autoinflammatory recurrent fevers', Annals of the Rheumatic Diseases. https://doi.org/10.1136/annrheumdis-2019-215048
Gattorno, Marco ; Hofer, Michael ; Federici, Silvia ; Vanoni, Federica ; Bovis, Francesca ; Aksentijevich, Ivona ; Anton, Jordi ; Arostegui, Juan Ignacio ; Barron, Karyl ; Ben-Cherit, Eldad ; Brogan, Paul A ; Cantarini, Luca ; Ceccherini, Isabella ; De Benedetti, Fabrizio ; Dedeoglu, Fatma ; Demirkaya, Erkan ; Frenkel, Joost ; Goldbach-Mansky, Raphaela ; Gul, Ahmet ; Hentgen, Veronique ; Hoffman, Hal ; Kallinich, Tilmann ; Kone-Paut, Isabelle ; Kuemmerle-Deschner, Jasmin ; Lachmann, Helen J ; Laxer, Ronald M ; Livneh, Avi ; Obici, Laura ; Ozen, Seza ; Rowczenio, Dorota ; Russo, Ricardo ; Shinar, Yael ; Simon, Anna ; Toplak, Nataša ; Touitou, Isabelle ; Uziel, Yosef ; van Gijn, Marielle ; Foell, Dirk ; Garassino, Claudia ; Kastner, Dan ; Martini, Alberto ; Sormani, Maria Pia ; Ruperto, Nicolino. / Classification criteria for autoinflammatory recurrent fevers. In: Annals of the Rheumatic Diseases. 2019.
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title = "Classification criteria for autoinflammatory recurrent fevers",
abstract = "BACKGROUND: Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD) and cryopyrin-associated periodic syndromes (CAPS)-and for the non-hereditary, periodic fever, aphthosis, pharyngitis and adenitis (PFAPA). We aimed to develop and validate new evidence-based classification criteria for HRF/PFAPA.METHODS: Step 1: selection of clinical, laboratory and genetic candidate variables; step 2: classification of 360 random patients from the Eurofever Registry by a panel of 25 clinicians and 8 geneticists blinded to patients' diagnosis (consensus ≥80{\%}); step 3: statistical analysis for the selection of the best candidate classification criteria; step 4: nominal group technique consensus conference with 33 panellists for the discussion and selection of the final classification criteria; step 5: cross-sectional validation of the novel criteria.RESULTS: The panellists achieved consensus to classify 281 of 360 (78{\%}) patients (32 CAPS, 36 FMF, 56 MKD, 37 PFAPA, 39 TRAPS, 81 undefined recurrent fever). Consensus was reached for two sets of criteria for each HRF, one including genetic and clinical variables, the other with clinical variables only, plus new criteria for PFAPA. The four HRF criteria demonstrated sensitivity of 0.94-1 and specificity of 0.95-1; for PFAPA, criteria sensitivity and specificity were 0.97 and 0.93, respectively. Validation of these criteria in an independent data set of 1018 patients shows a high accuracy (from 0.81 to 0.98).CONCLUSION: Eurofever proposes a novel set of validated classification criteria for HRF and PFAPA with high sensitivity and specificity.",
author = "Marco Gattorno and Michael Hofer and Silvia Federici and Federica Vanoni and Francesca Bovis and Ivona Aksentijevich and Jordi Anton and Arostegui, {Juan Ignacio} and Karyl Barron and Eldad Ben-Cherit and Brogan, {Paul A} and Luca Cantarini and Isabella Ceccherini and {De Benedetti}, Fabrizio and Fatma Dedeoglu and Erkan Demirkaya and Joost Frenkel and Raphaela Goldbach-Mansky and Ahmet Gul and Veronique Hentgen and Hal Hoffman and Tilmann Kallinich and Isabelle Kone-Paut and Jasmin Kuemmerle-Deschner and Lachmann, {Helen J} and Laxer, {Ronald M} and Avi Livneh and Laura Obici and Seza Ozen and Dorota Rowczenio and Ricardo Russo and Yael Shinar and Anna Simon and Nataša Toplak and Isabelle Touitou and Yosef Uziel and {van Gijn}, Marielle and Dirk Foell and Claudia Garassino and Dan Kastner and Alberto Martini and Sormani, {Maria Pia} and Nicolino Ruperto",
note = "{\circledC} Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.",
year = "2019",
month = "4",
day = "24",
doi = "10.1136/annrheumdis-2019-215048",
language = "English",
journal = "Annals of the Rheumatic Diseases",
issn = "0003-4967",
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TY - JOUR

T1 - Classification criteria for autoinflammatory recurrent fevers

AU - Gattorno, Marco

AU - Hofer, Michael

AU - Federici, Silvia

AU - Vanoni, Federica

AU - Bovis, Francesca

AU - Aksentijevich, Ivona

AU - Anton, Jordi

AU - Arostegui, Juan Ignacio

AU - Barron, Karyl

AU - Ben-Cherit, Eldad

AU - Brogan, Paul A

AU - Cantarini, Luca

AU - Ceccherini, Isabella

AU - De Benedetti, Fabrizio

AU - Dedeoglu, Fatma

AU - Demirkaya, Erkan

AU - Frenkel, Joost

AU - Goldbach-Mansky, Raphaela

AU - Gul, Ahmet

AU - Hentgen, Veronique

AU - Hoffman, Hal

AU - Kallinich, Tilmann

AU - Kone-Paut, Isabelle

AU - Kuemmerle-Deschner, Jasmin

AU - Lachmann, Helen J

AU - Laxer, Ronald M

AU - Livneh, Avi

AU - Obici, Laura

AU - Ozen, Seza

AU - Rowczenio, Dorota

AU - Russo, Ricardo

AU - Shinar, Yael

AU - Simon, Anna

AU - Toplak, Nataša

AU - Touitou, Isabelle

AU - Uziel, Yosef

AU - van Gijn, Marielle

AU - Foell, Dirk

AU - Garassino, Claudia

AU - Kastner, Dan

AU - Martini, Alberto

AU - Sormani, Maria Pia

AU - Ruperto, Nicolino

N1 - © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.

PY - 2019/4/24

Y1 - 2019/4/24

N2 - BACKGROUND: Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD) and cryopyrin-associated periodic syndromes (CAPS)-and for the non-hereditary, periodic fever, aphthosis, pharyngitis and adenitis (PFAPA). We aimed to develop and validate new evidence-based classification criteria for HRF/PFAPA.METHODS: Step 1: selection of clinical, laboratory and genetic candidate variables; step 2: classification of 360 random patients from the Eurofever Registry by a panel of 25 clinicians and 8 geneticists blinded to patients' diagnosis (consensus ≥80%); step 3: statistical analysis for the selection of the best candidate classification criteria; step 4: nominal group technique consensus conference with 33 panellists for the discussion and selection of the final classification criteria; step 5: cross-sectional validation of the novel criteria.RESULTS: The panellists achieved consensus to classify 281 of 360 (78%) patients (32 CAPS, 36 FMF, 56 MKD, 37 PFAPA, 39 TRAPS, 81 undefined recurrent fever). Consensus was reached for two sets of criteria for each HRF, one including genetic and clinical variables, the other with clinical variables only, plus new criteria for PFAPA. The four HRF criteria demonstrated sensitivity of 0.94-1 and specificity of 0.95-1; for PFAPA, criteria sensitivity and specificity were 0.97 and 0.93, respectively. Validation of these criteria in an independent data set of 1018 patients shows a high accuracy (from 0.81 to 0.98).CONCLUSION: Eurofever proposes a novel set of validated classification criteria for HRF and PFAPA with high sensitivity and specificity.

AB - BACKGROUND: Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD) and cryopyrin-associated periodic syndromes (CAPS)-and for the non-hereditary, periodic fever, aphthosis, pharyngitis and adenitis (PFAPA). We aimed to develop and validate new evidence-based classification criteria for HRF/PFAPA.METHODS: Step 1: selection of clinical, laboratory and genetic candidate variables; step 2: classification of 360 random patients from the Eurofever Registry by a panel of 25 clinicians and 8 geneticists blinded to patients' diagnosis (consensus ≥80%); step 3: statistical analysis for the selection of the best candidate classification criteria; step 4: nominal group technique consensus conference with 33 panellists for the discussion and selection of the final classification criteria; step 5: cross-sectional validation of the novel criteria.RESULTS: The panellists achieved consensus to classify 281 of 360 (78%) patients (32 CAPS, 36 FMF, 56 MKD, 37 PFAPA, 39 TRAPS, 81 undefined recurrent fever). Consensus was reached for two sets of criteria for each HRF, one including genetic and clinical variables, the other with clinical variables only, plus new criteria for PFAPA. The four HRF criteria demonstrated sensitivity of 0.94-1 and specificity of 0.95-1; for PFAPA, criteria sensitivity and specificity were 0.97 and 0.93, respectively. Validation of these criteria in an independent data set of 1018 patients shows a high accuracy (from 0.81 to 0.98).CONCLUSION: Eurofever proposes a novel set of validated classification criteria for HRF and PFAPA with high sensitivity and specificity.

U2 - 10.1136/annrheumdis-2019-215048

DO - 10.1136/annrheumdis-2019-215048

M3 - Article

C2 - 31018962

JO - Annals of the Rheumatic Diseases

JF - Annals of the Rheumatic Diseases

SN - 0003-4967

ER -