Familial Mediterranean fever

Summary

  • Primarily a genetic disease due to Mendelian-recessive inheritance of MEFV gene mutations.
  • Occurs mainly in people of Mediterranean ancestry, especially from Arabian countries, Turkey, and Armenia.
  • Characterised by recurrent attacks of fever and systemic inflammation, typically lasting 24 to 72 hours and presenting in childhood.
  • Rare manifestations include chronic arthritis, spondyloarthropathy, myopathies, and fibromyalgia.
  • Clinical judgement is important in establishing the diagnosis, which is often made retrospectively.
  • Majority respond to colchicine, which is almost always diagnostic and distinguishes from other inherited periodic fever syndromes.
  • Colchicine is the only proven treatment and prevents the most serious and life-threatening complication, renal amyloidosis.
Last updated: Jul 17, 2012
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