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Are MEFV mutations susceptibility factors in enthesitis-related arthritis patients in the eastern Mediterranean?

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Hacettepe University, İhsan Doğramacı Children`s Hospital, Department of Pediatric Nephrology and Rheumatology, Ankara, Turke. boragulhan@yahoo.comy

CER6700 Submission on line
2014 Vol.32, N°4 ,Suppl.84 - PI 0160, PF 0164
Paediatric Rheumatology

Rheumatology Article

 

Abstract

OBJECTIVES:
Enthesitis-related arthritis (ERA), is a complex genetic disease. Although HLA-B27 is well established, it does not explain all the genetic load in ERA. Familial Mediterranean fever (FMF), caused by mutations in the MEFV gene, is a frequent autoinflammatory disorder in the eastern Mediterranenan.
METHODS:
We investigated the clinical and imaging features of 53 ERA patients, as well as the frequency of MEFV gene mutations in those who were HLA-B27 negative.
RESULTS:
The mean age of the patients was 13.3±2.2 years and 49 were boys. Peripheral arthritis was present in all and sacroiletis in 26 patients. Ultrasonography showed enthesitis in 6 patients of the tendons, whereas these were assessed to be normal by physical examination. Forty patients (75.5%) were positive for HLA-B27. MEFV analysis was performed for patients who were HLA-B27 negative. One patient refused MEFV analysis. 9 patients carried MEFV mutations: 2 patients were homozygous for M694V (both patients were subsequently started colchicine along with ERA treatment), 5 patients were heterozygous for M694V mutation, 1 patient was heterozygous for E148Q, and 1 patient was heterozygous for K695R mutation. None of the patients had features suggesting FMF at diagnosis of ERA; 1 patient subsequently developed typical FMF attacks.
CONCLUSIONS:
Our findings suggest that MEFV mutations may represent a susceptibility factor for ERA in the populations of the eastern Mediterranean.

PMID: 24564907 [PubMed]

Received: 17/06/2013 - Accepted : 11/11/2013 - In Press: 24/02/2014 - Published: 30/09/2014