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SAT0500 Frequency of MEFV Gene Mutation and Correlatin of MEVF Gene Mutation with Clinical Symptoms in Patients with Gout
  1. A. Balkarlı1,
  2. E. Tepeli2,
  3. V. Çobankara1
  1. 1Rheumatology
  2. 2Medical Biology, Pamukkale university, Denizli, Turkey


Background Gout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric asid and monosodium urate crystals. IL – 1B is the most important cytokine in gout pathogenesis. Familial mediterranean fever (FMF) is a hereditary autoinflammatory disease with autosomal resessive inheritance.

Objectives MEFV gene mutation may contribute to gout pathogenesis with increased IL-1B activation.

Methods Seventy one consecutive patients (age: 61.73±11.73, F/M: 14/57) with the diagnosis of gout disease and 50 sex and age matched (age 61.48±11.97, F/M: 10/40) healthy control were enrolled into the study. Patients who had chronic renal failure and who took inadequate medical treatment for gout were not included into the study. Patients with the diagnosis of FMF or who had FMF related symptoms were excluded from the study. A family history of FMF was another exclution criteria. FMF gene's 2. and 10. line up was studied using genomic DNA isolated from both patients and healthy control group.

Results MEFV gene mutations were detected in 24 (33,8%) gout patients and in 13 (26%) healthy control group. Although the frequency of MEFV gene mutations in patients group was higher than in healthy control group, the difference was not statistically important (p=0.473). The comparison of each mutation did not show any statistical important difference (p>0.05). The second gouty arthritis attack occured in shorter time in patient with MEVF gene mutation than the patient without mutation. The difference was statistical signifant (P=0.014). Thrombocyte level was higher in patients with MEFV gene mutation (p=0.026). The number of patients having tophus was higher in patients with MEFV gene mutation (%8,5) than the patients without MEVF gene mutation (%1,4) (p=0.005). The frequency of acute gouty arthritis attack was higher in patients with MEVF mutation (p<0.001).

Conclusions Although there is not any increase in frequency of MEFV gene mutation in patients with gout but the presence of MEFV gene mutation may influence the clinical progress of gout.

Disclosure of Interest None declared

DOI 10.1136/annrheumdis-2014-eular.2095

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