Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers
Silvia Federici
(1)
,
Maria Pia Sormani
(2)
,
Seza Ozen
(3)
,
Helen J. Lachmann
(4, 5)
,
Gayane Amaryan
(6)
,
Patricia Woo
(7)
,
Isabelle Kone-Paut
(8)
,
Natacha Dewarrat
(9)
,
Luca Cantarini
(10)
,
Antonella Insalaco
(11)
,
Yosef Uziel
(12)
,
Donato Rigante
(13)
,
Pierre Quartier
(14)
,
Erkan Demirkaya
(15)
,
Troels Herlin
(16)
,
Antonella Meini
(17)
,
Giovanna Fabio
(18)
,
Tilmann Kallinich
(19)
,
Silvana Martino
(20)
,
Aviel Yonatan Butbul
(21)
,
Alma Olivieri
(22)
,
Jasmin Kuemmerle-Deschner
(23)
,
Bénédicte Neven
(14)
,
Anna Simon
(24)
,
Huri Ozdogan
(25)
,
Isabelle Touitou
(26, 27)
,
Joost Frenkel
(28)
,
Michael Hofer
(9, 29)
,
Alberto Martini
(2)
,
Nicolino Ruperto
(1)
,
Marco Gattorno
(1)
1
Istituto Giannina Gaslini, Genova
2 UniGe - Università degli studi di Genova = University of Genoa
3 Hacettepe University = Hacettepe Üniversitesi
4 National Amyloidosis Centre
5 UCL - University College of London [London]
6 Arabkir Joint Medical Centre- Institute of Child and Adolescent Health
7 UCL - Cardiac Unit, Institute of Child Health
8 CeRéMAIA - Hôpital André Mignot - Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles]
9 UNIL - Université de Lausanne = University of Lausanne
10 UNISI - Università degli Studi di Siena = University of Siena
11 IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital
12 Meir Medical Centre
13 Unicatt - Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma]
14 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
15 Ankara University School of Medicine [Turkey]
16 Aarhus University Hospital
17 UniBs - Università degli Studi di Brescia = University of Brescia
18 IRCCS Istituto Nazionale dei Tumori [Milano]
19 Charité - UniversitätsMedizin = Charité - University Hospital [Berlin]
20 UNITO - Università degli studi di Torino = University of Turin
21 Rambam Medical Health Center, Israel.
22 PARTHENOPE - Università degli Studi di Napoli “Parthenope” = University of Naples
23 Universitätsklinikum Tübingen - University Hospital of Tübingen
24 Radboud University Medical Center [Nijmegen]
25 Cerrahpasa Faculty of Medicine
26 CHU Montpellier
27 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
28 University Medical Center [Utrecht]
29 HUG - Geneva University Hospital
2 UniGe - Università degli studi di Genova = University of Genoa
3 Hacettepe University = Hacettepe Üniversitesi
4 National Amyloidosis Centre
5 UCL - University College of London [London]
6 Arabkir Joint Medical Centre- Institute of Child and Adolescent Health
7 UCL - Cardiac Unit, Institute of Child Health
8 CeRéMAIA - Hôpital André Mignot - Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles]
9 UNIL - Université de Lausanne = University of Lausanne
10 UNISI - Università degli Studi di Siena = University of Siena
11 IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital
12 Meir Medical Centre
13 Unicatt - Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma]
14 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
15 Ankara University School of Medicine [Turkey]
16 Aarhus University Hospital
17 UniBs - Università degli Studi di Brescia = University of Brescia
18 IRCCS Istituto Nazionale dei Tumori [Milano]
19 Charité - UniversitätsMedizin = Charité - University Hospital [Berlin]
20 UNITO - Università degli studi di Torino = University of Turin
21 Rambam Medical Health Center, Israel.
22 PARTHENOPE - Università degli Studi di Napoli “Parthenope” = University of Naples
23 Universitätsklinikum Tübingen - University Hospital of Tübingen
24 Radboud University Medical Center [Nijmegen]
25 Cerrahpasa Faculty of Medicine
26 CHU Montpellier
27 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
28 University Medical Center [Utrecht]
29 HUG - Geneva University Hospital
Seza Ozen
- Fonction : Auteur
- PersonId : 792303
- ORCID : 0000-0003-2883-7868
Isabelle Kone-Paut
- Fonction : Auteur
- PersonId : 947672
Donato Rigante
- Fonction : Auteur
- PersonId : 892646
Pierre Quartier
- Fonction : Auteur
- PersonId : 764841
- ORCID : 0000-0002-1769-549X
- IdRef : 139645683
Tilmann Kallinich
- Fonction : Auteur
- PersonId : 792304
- ORCID : 0000-0003-2404-9397
Résumé
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.