OBJECTIVES 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 Iranian...

Article type: Original article 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 distribu...

study by Gundogan et al. We only included the patients with both clinically and genetically diagnosed FMF. Thus, we think this lowers the false positive risk and increases the sensitivity of the study. We are wondering whether all patients in Gundogan et al.’s study had MEFV gene mutations, and if so, whether there was any genotype-phenotype correlation? Because M694V mutations, especially in a...

Results Fifteen patients (8 male, 7 female) from Eastern / Central European population with median age at disease onset 4 years (range 1.5-17) and median age at MEFV testing 8 years (range 3-17) were included; 9/15 patients with mutations in exon 10 (M694V, K695R, A744S, S730F), 3/15 with mutations in exon 3 (P369S/R408E, P369S/ R408Q) and 3/15 with mutations in exon 2 (E148Q, A289E). One patie...

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...

Background Familial Mediterranean Fever (FMF) is an autosomalrecessive disorder characterized by recurrent attacks of fever and serositis. It is common in eastern Mediterranean population. There are only few FMF patients in Slovenia and Macedonia and the mutation carrier rate is not known. So far, over 80 disease associated mutations have been identified in MEFV gene; the most common are M694V,...

Background Ongoing inflammatory episodes of familial Mediterranean fever (FMF) disease can cause damage in nearly all organ systems. Colchicine and interleukin1β blocking agents are successfully used to control the activity [1]. Although effect IL-1 blockers known for controlling amyloidosis [2], it is unclear whether they prevent Objectives In our study, we assessed patients with FMF treated c...

Background: Familial Mediterranean fever (FMF) is a monogenic autoinflammatory hereditary disease characterized by recurrent episodes of with sterile peritonitis, pleural inflammation, arthritis, and/or erysipelas-like rash. Among all variants the MEFV gene, according to literature, five pathogenic ones have been identified, which in 75% cases lead development typical clinical presentation: V72...