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Rheumatology (Oxford). 2009 Jul;48(7):840-2. doi: 10.1093/rheumatology/kep121. Epub 2009 May 22.

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

Author information

1
Department of Paediatrics and Paediatric Rheumatology, Hôpital de Bicêtre, National Reference Centre for Auto-inflammatory Disorders, Le Kremlin-Bicêtre, France. isabelle.kone-paut@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 degrees 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.

PMID:
19465590
DOI:
10.1093/rheumatology/kep121
[Indexed for MEDLINE]

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