Results 2 carrier for M694V and two patients who were homozygote for MEFV mutations. Both of these patients were among the most severe patients in the group. One had an excellent response to etanercept whereas the other was resistant to anti-TNF and other conventional treatments and had only a partial response to thalidomide. Although the number of severe mutations were increased in this small ...

Introduction Cutaneous Polyarteritis Nodosa (cPAN) is a rare type of vasculitis affecting small-to-medium-size arteries. It is distinct from systemic PAN in that it lacks significant internal organ involvement. Familial Mediterranean Fever (FMF) is the most common inherited autoinflammatory disease, characterized by recurrent, self–limited attacks of fever and aseptic polyserositis. PAN is cons...

Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease characterized by recurrent fever with serosal inflammation. We experienced a 53-year-old male who had been suffering from periodic attacks with slight fever and myalgia which were mainly triggered by cold exposure in winter. Although his clinical course did not satisfy the criteria for familial Mediterranean fever, heteroz...

Migraine pathogenesis involves a complex interaction between hormones, neurotransmitters, and inflammatory pathways, which also influence the migraine phenotype. The Mediterranean fever gene (MEFV) encodes the pyrin protein. The major role of pyrin appears to be in the regulation of inflammation activity and the processing of the cytokine pro-interleukin-1β, and this cytokine plays a part in mi...

OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease which primarily affects non-Ashkenazi Jews, Armenians, Arabs, and Turks. The gene responsible for the disease (MEFV/FMF) has been recently identified. Four common mutations in exon 10 of the MEFV gene seem to account for 86% of the DNA variations identified in patients with FMF. We conducted a phenotype/ge...

BACKGROUND Colchicine is the standard treatment for familial Mediterranean fever (FMF), preventing attacks and inflammatory complications. True resistance is rare and yet not clearly defined. We evaluated physicians' definition of colchicine resistance and report how they manage it. PATIENTS AND METHODS We recruited patients with a clinical diagnosis of FMF, one exon-10 Mediterranean fever (M...

Introduction MEFV is the first identified autoinflammatory gene related to Familial Mediterranean Fever (FMF) disease. We previously the tested the hypothesize of epigenetic involvement in FMF, mainly based on the occurrence of FMF in patients without mutations and decreased MEFV transcripts in leukocyte samples independent from mutations. Our study showed that higher methylation level of MEFV ...

Case A-7 year old boy was admitted with complaints of edema on his eyelid and lower extremity. On admission, he had edema, hepatosplenomegaly, proteinuria and hypoalbuminemia. So his diagnosis was accepted as nephrotic syndrome and steroid therapy was started. Since he did not respond steroid therapy, kidney biopsy was performed. Biopsy findings were consistent with amyloidosis. Steroid therapy...

Introduction Familial Mediterranean Fever (FMF) represents an autoinflammatory disease caused be MEFV gene mutation characterized with attacks of polyserositis, commonly seen among Turks, Arabs, Armenians and Jews. Therapy with colchicine was proven to be effective in treatment of FMF polyserositis and in prevention of amyloidosis development. Colchicine resistant FMF is defined as 6 or more at...