Erkan Demirkaya1, Celal Saglam1, Turker Turker1, Isabelle Koné-Paut1, Pat Woo1, Matteo Doglio1, Gayane Amaryan1, Joost Frenkel1, Yosef Uziel1, Antonella Insalaco1, Luca Cantarini1, Michael Hofer1, Sorina Boiu1, Ali Duzova1, Consuelo Modesto1, Annette Bryant1, Donato Rigante1, Efimia Papadopoulou-Alataki1, Severine Guillaume-Czitrom1, Jasmine Kuemmerle-Deschner1, Bénédicte Neven1, Helen Lachmann1, Alberto Martini1, Nicolino Ruperto1, Marco Gattorno1, Seza Ozen1. 1. From the Familial Mediterranean Fever Arthritis Vasculitis and Orphan Disease Research Center (FAVOR), Gulhane Military Medical Faculty; Epidemiology, Gulhane Military Medical Faculty, Ankara, Turkey; Centre de référence national des maladies auto-inflammatoires, CEREMAI, Rhumatologie pédiatrique, CHU Le Kremlin Bicêtre (APHP, University of Paris SUD), Paris, France; Center of Paediatric and Adolescent Rheumatology, UCL, London, UK; Istituto Giannina Gaslini, UO Pediatria II, Reumatologia, Genoa, Italy; Arabkir Medical Centre, Institute of Child and Adolescents Health, Yerevan, Armenia; Department of Paediatrics, University Medical Center Utrecht, Utrecht, Netherlands; Pediatrics, Meir Medical Centre, Kfar Saba, Israel; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome; Rheumatology Unit, Policlinico le Scotte, University of Siena, Siena, Italy; Pediatrie, Centre Multisite Romand de Rhumatologie Pediatrique/Centre Hospitalier, Universitaire Vaudois (CHUV), Lausanne, Switzerland; Pediatric Rheumatology, Université Paris-Descartes, Paris, France; Pediatric Rheumatology, Hacettepe University, School of Medicine, Ankara, Turkey; Reumatologia, Hospital Valle de Hebron, Barcelona, Spain; Pediatrics, Università Cattolica Sacro Cuore, Rome, Italy; Fourth Department of Pediatrics, Aristotle University of Thessaloniki Papageorgiou Hospital, Thessaloniki, Greece; Universitatsklinik fur Kinderheilkunde und Jugendmedizin, Tübingen, Germany; Université Paris-Descartes, Hôpital Necker-Enfants Malades, Centre de référence national pour les Arthrites Juveniles, Unité d'Immunologie, Hématologie et Rhumatologie Pédiatrique, Université Descartes, Sorbonne Paris Cité, Institut IMAGINE, Paris, France; National Amyloidosis Centre, University College London Medical School, Royal Free Campus, London, UK.E. Demirkaya, MD, MSc, FAVOR, Gulhane Military Medical Faculty; C. Saglam, MD, FAVOR, Gulhane Military Medical Facult
Abstract
OBJECTIVE: Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF). METHODS: Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed. RESULTS: The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria. CONCLUSION: The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.
OBJECTIVE: Our aims were to validate the pediatric diagnostic criteria in a large international registry and to compare them with the performance of previous criteria for the diagnosis of familial Mediterranean fever (FMF). METHODS: Pediatric patients with FMF from the Eurofever registry were used for the validation of the existing criteria. The other periodic fevers served as controls: mevalonate kinase deficiency (MKD), tumornecrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA), and undefined periodic fever from the same registry. The performances of Tel Hashomer, Livneh, and the Yalcinkaya-Ozen criteria were assessed. RESULTS: The FMF group included 339 patients. The control group consisted of 377 patients (53 TRAPS, 45 MKD, 32 CAPS, 160 PFAPA, 87 undefined periodic fevers). Patients with FMF were correctly diagnosed using the Yalcinkaya-Ozen criteria with a sensitivity rate of 87.4% and a specificity rate of 40.7%. On the other hand, Tel Hashomer and Livneh criteria displayed a sensitivity of 45.0 and 77.3%, respectively. Both of the latter criteria displayed a better specificity than the Yalcinkaya-Ozen criteria: 97.2 and 41.1% for the Tel Hashomer and Livneh criteria, respectively. The overall accuracy for the Yalcinkaya-Ozen criteria was 65 and 69.6% (using 2 and 3 criteria), respectively. Ethnicity and residence had no effect on the performance of the Yalcinkaya-Ozen criteria. CONCLUSION: The Yalcinkaya-Ozen criteria yielded a better sensitivity than the other criteria in this international cohort of patients and thus can be used as a tool for FMF diagnosis in pediatric patients from either the European or eastern Mediterranean region. However, the specificity was lower than the previously suggested adult criteria.