Review of MEFV gene mutations in Behçet's patients in Inner West Eagean Region

Behçet's disease (BD) is a systemic disease (disorder) which includes skin lesions, mucocutaneous, ocular, articular, vascular and central nervous system manifestations. The frequent appearance of FMF and Behçet?s disease within similar human populations, presence of clinically mistreated cases, emergence in the same family even in the same patient and acceptance of both diseases as auto inflammatory diseases brings to mind the possibility of common genetic background. This study aims to scrutinize the relationship of Behçet's disease with MEVF gene with the thesis of both diseases have the same genetic background, since it is already known that FMF has relation with MEVF geneBetween December 2007 and June 2008, 23 (57.5 %) male and 17 (42.5%) female Behçet's disease patients and 12 (60%) male and 8 (40%) female healthy volunteer (control group) have been studied in Afyonkarahisar Kocatepe University Faculty of Medicine Dermatology Department in accordance with the International Behçet's Disease Working Group criteriaWhile the mean age was 36.85 years in the patient group, it was 36.2 years in the control group. However there was no difference in sex and the mean age between the two groups. The evaluation of clinical findings in Behçet?s disease patients shows that all patients have oral aphthae, 90% have cutaneous lesions (papulopustular lesions 69%, erythema nodosum 19.4%), 85% have genital ulceration, 35% have arthritis, 32.5% have eye lesions and 17.5% have vascular lesions. Family story was only seen in 22.5% of patientsMEFV mutations (E148Q, M694V, M680I, M694I, V726A) were 35% in Behçet's patients and 25% in control group. The most observed mutation was M694V (20% in patients group, 5% in control group). E148Q mutation was 10% in patients group, 15% in control group. M680I mutation was 5% in both groups. While V726A mutation was 5% in patients group, it was not detected in control group. M694I mutation was not detected in either group. According to the statistical evaluation in our study, there was no significant difference in MEFV sub mutations. At the same time, it has been evaluated with one-to-one correspondence tests whether presence of MEFV mutation has any relationship with the development of any clinical symptomsWhile diagnostic criteria such as oral aphthae, genital ulceration, cutaneous lesions, eye lesions, positive patergi test was evaluated with higher priority, important additional findings such as arthritis and DVT was also investigated. Additionally the relationship of background findings; such as onset age, family story, and consaguinity to mutation was also investigated. No evidence of relationship between any of those findings and MEVF mutations has been detectedCompared with our search in the Literature, the frequency of MEFV mutation in our study was found similar in Turkish, Arabish and Jewish studies, while the frequency of MEFV mutation in our study was higher compared to Italian, French and Spanish studiesIn conclusion, there is no correlation between Behçet?s Disease and MEFV gene mutation in our study. Since the frequency of MEFV mutation is very close between Behçet's disease patients and control group, we can conclude that this mutation does not pose any additional risk to Behçet's disease patients. However the small number of patients and control members is a restrictive factor in our study. Wider population based prospective cohort studies are required to determine MEFV gene mutation ratio in Behçet's disease patients in our country. Since in our region MEFV mutation ratios are closely in Behçet?s patients and healthy controls, which had not Behcet's disease and FMF, we can consider the connection with regional mutation carrier. More realistic results can be carried on a large number of series which include especially Turkish Behçet?s disease and healthy persons MEFV gene mutation carriers.