Common FMF alleles may predispose to development of Behcet's disease with increased risk for venous thrombosis

E. Rabinovich, Y. Shinar, M. Leiba, M. Ehrenfeld, P. Langevitz, A. Livneh

Research output: Contribution to journalArticlepeer-review

92 Scopus citations

Abstract

Background: Behcet's disease (BD) is an inflammatory disorder of unknown cause, associated with vasculitis. Arterial or venous thrombosis occurs in about 25% of BD patients. Familial Mediterranean fever (FMF) is another inflammatory disorder, which stems from mutations in the FMF gene (MEFV) and shares a number of features with BD. Objective: MEFV analysis in patients with BD suggests that mutated MEFV may act as a susceptibility gene in BD. We studied the rate and the clinical correlates of MEFV mutations in Israeli BD patients. Methods: Included were 54 BD patients who satisfied the International Study Group criteria for BD. All BD patients were genotyped using polymerase chain reaction (PCR) and restriction enzyme analysis for the three most common MEFV mutations (M694V, V726A, and E148Q). The association between BD manifestations and MEFV alleles was analysed. Results: Twenty-one BD patients were found to carry a single MEFV mutation and three additional patients were compound heterozygotes, a frequency significantly higher than that expected for ethnically matched healthy individuals. There were no statistically significant differences between carriers and non-carriers with respect to gender, frequency of HLA B5 antigen, cutaneous lesions, joint disease, and severity score. However, carriers did experience thrombosis more often [54% vs. 17%, p<0.005, odds ratio (OR)=6.9, 95% confidence interval (CI) 1.75-26.9] and uveitis less often (20% vs. 40%, p<0.05, OR=0.2, 95% CI 0.04-0.92). Conclusions: MEFV appears to be a susceptibility and modifier gene in BD.

Original languageEnglish
Pages (from-to)48-52
Number of pages5
JournalScandinavian Journal of Rheumatology
Volume36
Issue number1
DOIs
StatePublished - 18 Apr 2007
Externally publishedYes

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