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AB0632 MEFV Gene Mutations in Armenian Patients with Behçet's Disease
  1. A. Haroyan1,
  2. V. Mukuchyan1,
  3. G. Amaryan2,
  4. G. Khloyan2
  1. 1Rheumatology, Erebuni Medical Center
  2. 2National Pediatric Centre for Familial Mediterranenan fever, “Arabkir” Medical Complex - Institute of Child and Adolescent Health, Yerevan, Armenia


Background Behçet's disease (BD) is an autoimmune condition with an unknown etiology that is characterized by multisystem vasculitis, oral and genital ulcers and ocular inflammation. Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder caused by mutations in MEFV. It occurs mainly in people of Mediterranean origin – Sephardic Jews, Arabs, Armenians, Turks

Objectives We aimed to investigate the frequency of MEFV mutations and its possible influence on the BD course.

Methods We have examinated 18 patients with BD. All patients fulfilled the International Study Group Criteria for the diagnosis BD (ISG 1990). They were also investigated for HLA B51 and molecular-genetic detection of 12 MEFV mutations common for Armenians in Medical Genetic Centre of Armenia. 2 of them had also approved FMF. The diagnosis of FMF was confirmed according to the generally recognized Tel-Hashomer criteria (Livneh A. et al., 1997; 2000).

Results All 18 patients have positive HLA B51. As was mentioned earlier 2 of them had approved FMF and 16 who had no clinical symptoms and family history for FMF. 8 patients were found to carry a single MEFV mutation and 1 patient were compound heterozygous. The number of MEFV mutation carriers in BD patients was higher (50%) than in any other study which has been published before e.g. S. Ayesh et al 2008 – 40.5% in Palestinian population from West Bank and Jerusalem and P. Atagunduz et al 2003 – 26%, T. Tasliyurt et al 2012 – 39.1%, A. Yazici et al 2013 – 27% in Turkish population. The frequency of severe M694V mutation was significantly higher in the BD group (22.2%) than in healthy Armenian population - 4.7% (Hayrapetyan A.S., 2002). The frequency of ocular involvement was significantly lower in patients with any mutation (25%) than in patients who did not have been screened for MEFV gene mutations e.g. Wu H et al 2014 - 85.6%, Tugal-Tutkun et al., 2004 - 95%.

Conclusions We mentioned an importance of MEFV gene mutations in ocular involvement for BD patients something which gives an opportunity for further researches in this field for determination of the exact role of MEFV gene mutation in pathogenesis of BD.

Disclosure of Interest None declared

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