What is the role of familial Mediterranean fever (FMF) in the etiology of systemic juvenile idiopathic arthritis (JIA) and?

Updated: Jul 25, 2019
  • Author: David D Sherry, MD; Chief Editor: Lawrence K Jung, MD  more...
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Some pediatric rheumatologists view systemic-onset JIA as an autoinflammatory disorder, such as familial Mediterranean fever (FMF) or cryopyrin-associated periodic fever syndromes, rather than a subtype of JIA. This theory is supported by work demonstrating similar expression patterns of a phagocytic protein (S100A12) in systemic-onset JIA and FMF, as well as the same marked responsiveness to IL-1 receptor antagonists. [11]

FMF is associated with mutations in the MEFV gene; these mutations are associated with activation of the IL-1b pathway, resulting in inflammation. A study by Ayaz et al found an increased frequency of MEFV mutations in Turkish children who were diagnosed with systemic JIA [12] ; this study has not been replicated in other populations.

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