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Title: Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
Author: Giancane, Gabriella
Ter Haar, Nienke M.
Wulffraat, Nico
Vastert, Sebastiaan J.
Barron, Karyl
Hentgen, Veronique
Kallinich, Tilmann
Ozdogan, Huri
Antón López, Jordi
Brogan, Paul
Cantarini, Luca
Frenkel, Joost
Galeotti, Caroline
Gattorno, Marco
Grateau, Gilles
Hofer, Michael
Koné-Paut, Isabelle
Kuemmerle-Deschner, Jasmin
Lachmann, Helen J.
Simon, Anna
Demirkaya, Erkan
Feldman, Brian
Uziel, Yosef
Ozen, Seza
Keywords: Malalties hereditàries
Genètica mèdica
Febre recurrent
Genetic diseases
Medical genetics
Relapsing fever
Issue Date: 27-Jan-2015
Publisher: BMJ Publishing Group
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 de fined 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.
Note: Reproducció del document publicat a:
It is part of: Annals of the Rheumatic Diseases, 2015, vol. 74, num. 4, p. 635-641
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ISSN: 0003-4967
Appears in Collections:Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques)

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