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 language | English |
|---|---|
| Journal | Annals of the Rheumatic Diseases |
| DOIs | |
| Publication status | E-pub ahead of print - Apr 24 2019 |
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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 journal › Article
}
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 -