title: Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
abstract: Familial Mediterranean fever (FMF) is a disease of early onset which can lead to significant morbidity. In 2012, Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) was launched with the aim of optimising and disseminating diagnostic and management regimens for children and young adults with rheumatic diseases. The objective was to establish recommendations for FMF focusing on provision of diagnostic tools for inexperienced clinicians particularly regarding interpretation of MEFV mutations. Evidence-based recommendations were developed using the European League against Rheumatism standard operating procedure. An expert committee of paediatric rheumatologists defined search terms for the systematic literature review. Two independent experts scored articles for validity and level of evidence. Recommendations derived from the literature were evaluated by an online survey and statements with less than 80% agreement were reformulated. Subsequently, all recommendations were discussed at a consensus meeting using the nominal group technique and were accepted if more than 80% agreement was reached. The literature search yielded 3386 articles, of which 25 were considered relevant and scored for validity and level of evidence. In total, 17 articles were scored valid and used to formulate the recommendations. Eight recommendations were accepted with 100% agreement after the consensus meeting. Topics covered were clinical versus genetic diagnosis of FMF, genotype-phenotype correlation, genotype-age at onset correlation, silent carriers and risk of amyloid A (AA) amyloidosis, and role of the specialist in FMF diagnosis. The SHARE initiative provides recommendations for diagnosing FMF aimed at facilitating improved and uniform care throughout Europe.
authors: Department of Pediatric Immunology, UMC, Utrecht, The Netherlands.
authors: Gabriella
authors: G
authors: Giancane
authors: Laboratory for Translational Immunology, UMC, Utrecht, The Netherlands.
authors: Nienke M
authors: NM
authors: Ter Haar
authors: Department of Pediatric Immunology, UMC, Utrecht, The Netherlands.
authors: Nico
authors: N
authors: Wulffraat
authors: Department of Pediatric Immunology, UMC, Utrecht, The Netherlands.
authors: Sebastiaan J
authors: SJ
authors: Vastert
authors: NIH, Bethesda, USA.
authors: Karyl
authors: K
authors: Barron
authors: Reference Centre for Autoinflammatory Disorders (CEREMAI) Centre Hospitalier de Versailles, Le Chesnay Cedex, France.
authors: Veronique
authors: V
authors: Hentgen
authors: Charite University Medicine, Berlin, Germany.
authors: Tilmann
authors: T
authors: Kallinich
authors: Cerrahpasa Ic Hastaliklari Klinigi, Istanbul, Turkey.
authors: Huri
authors: H
authors: Ozdogan
authors: Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
authors: Jordi
authors: J
authors: Anton
authors: Infection, Inflammation and Rheumatology Section, UCL Institute of Child Health, London, UK.
authors: Paul
authors: P
authors: Brogan
authors: Policlinico Le Scotte, University of Siena, Siena, Italy.
authors: Luca
authors: L
authors: Cantarini
authors: Department of Pediatrics, UMC, Utrecht, The Netherlands.
authors: Joost
authors: J
authors: Frenkel
authors: Reference Centre for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Le Kremlin Bicêtre Cedex, France.
authors: Caroline
authors: C
authors: Galeotti
authors: UO Pediatria II, G. Gaslini Institute, Genova, Italy.
authors: Marco
authors: M
authors: Gattorno
authors: Centre national de référence des amyloses d'origine inflammatoire et de la fièvre, Hôpital Tenon, AP-HP, Université Pierre-et-Marie-Curie, Paris, France.
authors: Gilles
authors: G
authors: Grateau
authors: Pediatric Rheumatology, Department of Pediatrics, University of Lausanne, Lausanne and University of Geneva, Geneva, Switzerland.
authors: Michael
authors: M
authors: Hofer
authors: Division of Paediatric Rheumatology, Reference Centre for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Paris, France.
authors: Isabelle
authors: I
authors: Kone-Paut
authors: Klinik für Kinder- und Jugendmedizin, Abteilung für pädiatrische Rheumatologie, Autoinflammation Reference Center Tübingen, Universitätsklinikum Tübingen, Tübingen, Germany.
authors: Jasmin
authors: J
authors: Kuemmerle-Deschner
authors: National Amyloidosis Centre, University College London Medical School, London, UK.
authors: Helen J
authors: HJ
authors: Lachmann
authors: Department of Medicine, Division of General Internal Medicine, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
authors: Anna
authors: A
authors: Simon
authors: Gulhane Military Medical Faculty, Institute of Health Sciences, R&D Center, Ankara, Turkey.
authors: Erkan
authors: E
authors: Demirkaya
authors: University of Toronto, The Hospital for Sick Children, Toronto, Canada.
authors: Brian
authors: B
authors: Feldman
authors: Department of Pediatrics, Meir Medical Center, Kfar Saba, Tel Aviv University, Sackler School of Medicine, Tel Aviv, Israel.
authors: Yosef
authors: Y
authors: Uziel
authors: Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors: Seza
authors: S
authors: Ozen
mesh_terms: D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D019317:Evidence-Based Medicine; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D000071198:Pyrin; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin
keywords: Amyloidosis; Familial Mediterranean Fever; Fever Syndromes