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• W2323559225 abstract "<h3>Background</h3> FMF is the prototype of autoinflammatory disorder characterized by recurrent self-limited inflammatory episodes.¹FMF is an autosomal recessive disease that is prevalent among eastern Mediterranean populations. The responsible gene (<i>MEFV</i>) encodes for the pyrin protein (or marenostrin)^2,3 and the most serious complication of the disease is amyloidosis <h3>Objectives</h3> To report on the clinical manifestations and genotypic variation in a cohort of FMF patients followed at the University Hospital of Crete. <h3>Methods</h3> During the period 2005-2013, 160 patients were evaluated for possible FMF. The diagnosis was established according to clinical judgment and genetic analysis for the 12 most frequent <i>MEFV</i> mutations (based on the “FMF Strip Assay”). We reviewed the clinical, laboratory and genetic characteristics in patients who are evaluated in the clinic on a regular basis. <h3>Results</h3> 106 patients (50% women) were diagnosed with FMF with an average age 23.5 years (range 1-60) at the time of first attack. Combined <i>MEFV</i> heterozygosity and homozygosity was found in 31.1% of the patients, while 19.9% of patients carried no mutation. <i>MEFV</i> M694V was the most frequent (49.5%) mutation. The most frequent presenting manifestations were abdominal pain and fever (Table 1). 78% of patients are receiving colchicine 1 mg/day, while 13% require >1 mg/day to prevent attacks. Only one patient receives IL1-blockade (anakinra) due to colchicine failure. No patients discontinued colchicine due to side effect. Amyloidosis developed in 2 patients. There were no differences in clinical manifestation or response to treatment among patients with a single mutation, two mutations, or no <i>MEFV</i> mutation at the time of diagnosis. <h3>Conclusions</h3> In a cohort of FMF patients in the Mediterranean island of Crete, the most common <i>MEFV</i> mutation was M694V and all but two patients had excellent prognosis on colchicine therapy. Genotype did not correlate with clinical manifestations or response to treatment. <h3>References</h3> Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever. A survey of 470 cases and review of the literature.Am J Med 43:227–2532 French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 997;17:25-31. International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90:797-807. <h3>Disclosure of Interest</h3> : None declared <h3>DOI</h3> 10.1136/annrheumdis-2014-eular.3363" @default.
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• W2323559225 date "2014-06-01" @default.
• W2323559225 modified "2023-09-26" @default.
• W2323559225 title "THU0367 Familial Mediterranean Fever (FMF): A Single Center Clinical-Genetic Study: Table 1" @default.
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• W2323559225 doi "https://doi.org/10.1136/annrheumdis-2014-eular.3363" @default.
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