clinical impact of MEFV mutations in children with periodic fever in a prevalent western european caucasian population

Annals of the Rheumatic Diseases (Impact Factor: 9.27). 05/2012;
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    ABSTRACT: Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease due to mutations in MEFV. Descriptions of disease manifestations among patients carrying a single mutated MEFV allele are becoming more frequent although no data is available on the long-term outcome. Aim: To assess the accuracy of clinical diagnosis in children carrying a single mutated MEFV allele with symptoms of recurrent autoinflammatory disorder (AID). Methods: We performed a retrospective single-centre study of 33 AID patients younger than 6 years at disease onset with 1 mutated MEFV allele. The phenotype of the patients was investigated in detail and the clinical picture and outcome of 18 patients with an initial FMF diagnosis according to current clinical criteria were compared to those of 25 homozygotes or compound heterozygotes. Results: No major differences in presenting signs or initial response to colchicine were observed between patient groups. During follow-up, heterozygotes had a milder course of the disease and were less prone to experience new clinical signs of FMF than homozygotes. At puberty clinical signs of FMF completely disappeared in 5/18 heterozygotes allowing them to cease colchicine without recurrence of symptoms or raise of inflammatory markers. Conclusion: Our data suggest that the clinical diagnosis of FMF in very young heterozygous children should be made with caution; at this young age they can present with an FMF-like disease - similar to that seen in patients carrying two mutated alleles - that is not necessarily predictive of life-long illness. © 2013 American College of Rheumatology.
    Arthritis & Rheumatology 03/2013; 65(6). DOI:10.1002/art.37935 · 7.48 Impact Factor