Skip Navigation


Rheumatology Advance Access originally published online on May 22, 2009
Rheumatology 2009 48(7):840-842; doi:10.1093/rheumatology/kep121
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
48/7/840    most recent
kep121v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Koné-Paut, I.
Right arrow Articles by Touitou, I.
PubMed
Right arrow PubMed Citation
Right arrow Articles by Koné-Paut, I.
Right arrow Articles by Touitou, I.
Related Collections
Right arrow Systemic Lupus Erythematosus and Autoimmunity
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2009. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

The clinical spectrum of 94 patients carrying a single mutated MEFV allele

Isabelle Koné-Paut1, Véronique Hentgen2, Severine Guillaume-Czitrom1, Sandrine Compeyrot-Lacassagne1, Tu-Anh Tran1 and Isabelle Touitou3

1Department of Paediatrics and Paediatric Rheumatology, Hôpital de Bicêtre, National Reference Centre for Auto-inflammatory Disorders, Le Kremlin-Bicêtre, 2Department of Pediatrics, Hôpital A Mignot, Versailles and 3Laboratory of Genetics, Auto-inflammatory Diseases Unit, Hôpital A de Villeneuve, Montpellier, France.

Correspondence to: Isabelle Koné-Paut, Department of Paediatrics and Paediatric Rheumatology, CHU de Bicêtre, 78 rue du Général Leclerc 94270, Le Kremlin-Bicêtre, France. E-mail: isabelle.kone-paut{at}bct.aphp.fr


  Abstract

Objective. To assess the clinical characteristics of patients living in France and carrying a single MEFV mutation.

Method. A retrospective chart review of patients referred to us for recurrent fevers. Genetic testing: systematic screening of exons 2 and 10 was performed in the MEFV gene. A subset of patients was also investigated for other auto-inflammatory genes.

Results. We analysed 94 patients (sex ratio:1). Forty-two percent of them were Jews and 17% were Arabs. The median age of onset was 2 years (3 months–47 years). Fever was >39°C in 80% of them, while the duration and frequency of an attack varied (<24 h: 8%; 1–3 days: 56%; >3 days: 36%; >2 months: 15%; 1–2 months: 48%; and <1 month: 37%, respectively). Peritonitis occurred in 97%, pleuritis in 25%, arthralgia in 53%; skin rashes in 20%, aphthosis in 18% and lymphadenopathy in 9%. MEFV mutations were M694V (60%) and M694I (7%). The R92Q TRAPS mutation was retrieved in 3/21 patients tested and the V377I MKD mutation in 1/6. Associated diseases in these patients were periodic fever, aphthosis pharyngitis and adenitis syndrome (4), AS (5), Crohn's disease (2) and Castleman's disease (1).

Conclusion. The clinical picture of French heterozygote patients with recurrent fevers resembles that of homozygote patients. Most of them required colchicine treatment.

KEY WORDS: Familial Mediterranean fever, MEFV heterozygotes, Children, Genetics

Submitted 3 December 2008; revised version accepted 15 April 2009.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.