Familial Mediterranean Fever (FMF) is an autoinflammatory periodic disorder. We aim to identify the distribution and the frequency of the Mediterranean Fever (MEFV) gene mutations in the east of Anatolia in Turkey and perform a genotype/phenotype correlation in the patients' cohort. The study was carried out on 415 clinically diagnosed Turkish FMF patients and 103 healthy controls. The tested i...

Results MEFV analysis was available for 44/69 patients, 7/8 with systemic onset(So) JIA and 37/61 with other types of JIA. MEFV mutations were found in 27/44 patients tested (61%). 3/7 patients (43%) with SoJIA had MEFV mutations, all heterozygous. Of the 24/37 patients (65%) with other forms of JIA had confirmed MEFV mutations and 12/24 had typical episodes of FMF. With colchicine in addition ...

Background: Amyloid A (AA) amyloidosis, previously known as secondary or reactive is a long-recognized severe complication of some chronic inflammatory diseases. The pathogenesis and risk factors for amyloidosis in Familial Mediterranean Fever (FMF) remain partially understood (1). development AA dependent on ethnicity country residence (2). In the pre-colchicine era, renal AA-amyloidosis was l...

Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease affecting mainly ethnic groups of basin. It has been reported that it can coexist with various systemic inflammatory diseases. This study aimed to obtain information on rheumatic diseases accompany FMF and evaluate relation between such diseases.
 Methods: Eighty-four patients diagnosed hav...

objective(s):familial mediterranean fever (fmf), an inherited autosomal recessive disorder, is frequently present among individuals of mediterranean origin. differences in the clinical manifestations of fmf between different ethnic groups have been documented. the aim of the present study was to determine the most common characteristics of fmf and the relationship between clinical findings and ...

Objectives Recent studies have shown that interleukin-23 receptor (IL23R) polymorphisms confer susceptibility to ankylosing spondylitis, psoriasis, psoriatic arthritis and Crohn’s disease. The A allele of rs1004819 was found in a significantly higher frequency among patients suffering from these diseases compared to controls. We aimed to determine the affect of rs1004819 in M694V homozygote FMF...

Introduction Analysis of various symptoms from 20000 FMF patients indicates that several issues, including the clinical manifestation in a variety of combinations and the genotype penetrance, make FMF diagnosis and management challenging. Severe phenotypes with development of serositis, ELE, splenomegaly, and vasculitis are associated with high penetrance mutations of exon 10, mainly M694V allele.

objective(s):familial mediterranean fever (fmf) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. fmf affects mainly mediterranean populations and is caused by mutations in the familial mediterranean fever (mefv) gene. the aim of this study was to identify the frequency and distribution of mefv mutations in irani...