Results from a multicentre international registry of Familial Mediterranean fever: Impact of environment on the expression of a monogenic disease in children

Seza Ozen, Erkan Demirkaya, Gayane Amaryan, Isabelle Koné-Paut, Adem Polat, Pat Woo, Yosef Uziel, Consuelo Modesto, Martina Finetti, Pierre Quartier, Efimia Papadopoulou-Alataki, Sulaiman M. Al-Mayouf, Giovanna Fabio, Romina Gallizzi, Luca Cantarini, Joost Frenkel, Susan Nielsen, Michael Hofer, Antonella Insalaco, C. AcikelHuri Ozdogan, Alberto Martini, Nicolino Ruperto, Marco Gattorno

Research output: Contribution to journalArticlepeer-review

Abstract

Background and aim: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations of the MEFV gene. We analyse the impact of ethnic, environmental and genetic factors on the severity of disease presentation in a large international registry. Methods: Demographic, genetic and clinical data from validated paediatric FMF patients enrolled in the Eurofever registry were analysed. Three subgroups were considered: (i) patients living in the eastern Mediterranean countries; (ii) patients with an eastern Mediterranean ancestry living in western Europe; (iii) Caucasian patients living in western European countries. A score for disease severity at presentation was elaborated. Results: Since November 2009, 346 FMF paediatric patients were enrolled in the Eurofever registry. The genetic and demographic features (ethnicity, age of onset, age at diagnosis) were similar among eastern Mediterranean patients whether they lived in their countries or western European countries. European patients had a lower frequency of the high penetrance M694V mutation and a significant delay of diagnosis (p

Original languageEnglish
Pages (from-to)662-667
Number of pages6
JournalAnnals of the Rheumatic Diseases
Volume73
Issue number4
DOIs
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Rheumatology
  • Immunology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Allergy

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