2010
DOI: 10.1097/rhu.0b013e3181eedb15
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Familial Mediterranean Fever Presenting as Anti-Cyclic Citrullinated Peptide Antibody Negative Palindromic Rheumatism

Abstract: A 64-year-old Egyptian man who resides in the United States presented to the rheumatology clinic with 6 months history of episodic recurrent pauci--arthritis along with constitutional symptoms. His Mediterranean ancestry, anti-cyclic citrullinated peptide negativity, and cyclical palindromic rheumatism prompted an investigation for familial Mediterranean fever gene mutation. He was found to have heterozygous 694I gene mutation during MEFV analysis. He also met Liveneh 1 major and 1 minor criteria for the diagn… Show more

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“…Familial Mediterranean fever (FMF) is an autoinflammatory autosomal‐recessive disease characterized by recurrent attacks of fever, peritonitis, pleuritis, arthritis, and/or erysipelas‐like skin lesions . The 781 amino acids long Mediterranean fever ( MEFV ) gene, responsible for the pathogenesis of the disease, is found in the short arm of chromosome 16 and codes the pyrin (marenostrin) protein .…”
Section: Introductionmentioning
confidence: 99%
“…Familial Mediterranean fever (FMF) is an autoinflammatory autosomal‐recessive disease characterized by recurrent attacks of fever, peritonitis, pleuritis, arthritis, and/or erysipelas‐like skin lesions . The 781 amino acids long Mediterranean fever ( MEFV ) gene, responsible for the pathogenesis of the disease, is found in the short arm of chromosome 16 and codes the pyrin (marenostrin) protein .…”
Section: Introductionmentioning
confidence: 99%