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Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever
Annals of the Rheumatic Diseases
  • Gabriella Giancane, University Medical Center Utrecht
  • Nienke M.Ter Haar, University Medical Center Utrecht
  • Nico Wulffraat, University Medical Center Utrecht
  • Sebastiaan J. Vastert, University Medical Center Utrecht
  • Karyl Barron, National Institutes of Health (NIH)
  • Veronique Hentgen, CHV Centre Hospitalier de Versailles
  • Tilmann Kallinich, Charité – Universitätsmedizin Berlin
  • Huri Ozdogan, Cerrahpasa Ic Hastaliklari Klinigi
  • Jordi Anton, Universitat de Barcelona
  • Paul Brogan, UCL Great Ormond Street Institute of Child Health
  • Luca Cantarini, Azienda Ospedaliera Universitaria Senese
  • Joost Frenkel, University Medical Center Utrecht
  • Caroline Galeotti, Hopital de Bicetre
  • Marco Gattorno, Istituto Giannina Gaslini
  • Gilles Grateau, Hôpital Tenon
  • Michael Hofer, Université de Lausanne (UNIL)
  • Isabelle Kone-Paut, Universite Paris-Saclay
  • Jasmin Kuemmerle-Deschner, Universitätsklinikum und Medizinische Fakultät Tübingen
  • Helen J. Lachmann, UCL Medical School
  • Anna Simon, Radboud University Medical Center
  • Erkan Demirkaya, Gulhane Military Medical Academy
  • Brian Feldman, Hospital for Sick Children University of Toronto
  • Yosef Uziel, Tel Aviv University
  • Seza Ozen, Hacettepe Üniversitesi
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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. Evidencebased 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.

Citation Information
Gabriella Giancane, Nienke M.Ter Haar, Nico Wulffraat, Sebastiaan J. Vastert, et al.. "Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever" Annals of the Rheumatic Diseases Vol. 74 Iss. 4 (2015) p. 635 - 641
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