Article Text

AB0905 The Expanding Spectrum of Inflammatory Diseases Associated with Mefv Gene Mutations
  1. F. Cosan1,
  2. Z.A. Cetinkaya2
  1. 1Department of Internal Medicine, Division of Rheumatology
  2. 2Department of Internal Medicine, Bahcesehir University, Faculty of Medicine, Istanbul, Turkey


Background Familial Mediterranean fever is an autoinflammatory disease with recurrent inflammatory attacks. The genetic cause of FMF is the mutations in the MEFV gene coding pyrin, which has role in the activation of inflammasome, acitvation of caspase 1 and production of IL-1B. The impaired function of MEFV gen results increased systemic inflammation. It is shown that MEFV mutations can have effect on some other inflammatory diseases as contributing the disease development or increased inflammation or severe disease duration.

Objectives It is reported several articles about the association between MEFV mutations and different inflammatory diseases. We aimed in this study to analyse the MEFV gene associated diseases with a systematic review.

Methods We searched databases for articles about MEFV gene mutations (MEFVm). We excluded the articles including FMF patients. 92 research articles were included our study which analysed the MEFV gene mutations in inflammatory diseases except FMF.

Results Inflammatory bowel disease (IBD), Behçet's disease (BD), HSP, ankylosing spondylitis (AS), PFAPA, JIA, ischemic heart disease (IHD) were disorders which are associated increased MEFV gene mutation rate and it is shown in these diseases that MEFVm have disease modifying effect. Rheumatoid arthritis and SLE studies have shown no significant difference in MEFVm rates, but MEFVm are related with some clinical findings. The MEFVm carrier frequency was increased in seronegative arthritis, adult onset Still disease (AOSD), fibromiyalgia, dismenorrhea, chronic renal failure, hematolymphoid neoplasms (ALL, MM, MDS, PV). The study design of these disorders doesn't include to investigate the relationship of MEFVm with the disease activity. It was found any association with MEFVm in gouty arthritis, rheumatic heart disease, uveitis,idiopatic pericarditis, tip I Diabetes Mellitus and osteoarthritis. The detailed data is shown in Table-1.

Table 1.

MEFV gene associated diseases

Conclusions MEFV mutations may have effect in the develeopment of inflammatory diseases and may modify the clinical findings. This modifying effect may be important especially in countries with high MEFVm mutation carrier rate.

Disclosure of Interest None declared

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