Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among populations surrounding the Mediterranean Sea. FMF is the most prevalent autoinflammatory disease; is characterized by recurrent, self-limited episodes of fever with serositis; and is caused by Mediterranean fever gene (MEFV) mutations on chromosome 16. We describe a c...

Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis. It is caused by a dysfunction of pyrin (or marenostrin) as a result of a mutation within the MEFV gene. It occurs mostly in individuals of Mediterranean origin; however, it has also been reported in non-Mediterranean populations. In this report, we describe...

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever and serosal, synovial, or cutaneous inflammation, caused by a dysfunction of pyrin as a result of mutation within the MEFV gene. It occurs mainly among Mediterranean and Middle Eastern populations, including Jews, Arabs, and Turks. However, FMF cases have been reported outside the M...

Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever and neutrophil-mediated serosal inflammation. We recently identified the gene causing FMF, designated MEFV, and found it to be expressed in mature neutrophils, suggesting that it functions as an inflammatory regulator. To facilitate our understanding of the normal function of MEFV, we extended our prev...

A young woman patient had early and extensive familial Mediterranean fever (FMF)-related amyloidosis and pseudoxanthoma elasticum (PXE). She had the novel G1042S mutation in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, responsible for PXE, and the mutation M694I in MEFV, the FMF gene. Both mutations were homozygous, in agreement with consanguinity in the parents. ABCC6 deficiency...

Methods Bidirectional DNA Sequencing analysis of MEFV gene in all coding exons and exon-intron boundaries was performed in Turkish patients clinically pre-diagnosed as FMF consulted in Ege University School of Medicine between years 2009-2013 (n=8000) and in healthy control group individuals (n=250). For patients who were mutation negative in screened exons, exons 1, 4, 6, 7, 8, and 9 were also...

Objectives The potential risk factors of amyloidosis are known as ethnic origin (Jewish, Armenian, Turkish, and North African origin), non-usage of colchicines, and family history. Various investigators suggest that M694V mutation, especially homozygote pattern, is a risk factor for amyloidosis. In literatures reported from Turkey, it is stated that there is only a limited association. In this ...

Introduction Systemic reactive (AA) amyloidosis represents the most important complication within TNF receptor associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and other autoinflammatory syndromes, progressively leading to endstage renal failure. The homozygous condition of the serum amyloid A (SAA) variant SAA1.1 is significantly associated with the occurrence of AA amy...

Sirs, It is now being recognised that familial Mediterranean fever (FMF) also occurs in non-Mediterranean populations, including Japanese (1). The arthritis of FMF consists of acute attacks of pain and swelling of one articulation at a time, most frequently affecting the large joints of the lower extremities within 2-3 days duration (2). In some cases, however, protracted arthritis develops, mo...

Introduction The inflammasome complex and the inflammatory pathway have been implicated in the pathogenesis of familial Mediterranean fever (FMF), and recently ASC (apoptosis-associated speck-like protein containing a CARD) mRNA expression was found to be up-regulated in patients carrying MEFV mutations independent of the mutation type. Gene-expression profiling has the capacity to reveal trans...