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Familial Mediterranean fever

Familial Mediterranean fever
Familial Mediterranean fever has an autosomal recessive pattern of inheritance
SpecialtyRheumatology, Immunology

Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder.[1]: 149  FMF is an autoinflammatory disease caused by mutations in the Mediterranean fever (MEFV) gene, which encodes a 781–amino acid protein called pyrin.[2] While all ethnic groups are susceptible to FMF, it usually occurs in people of Mediterranean origin—including Sephardic Jews, Mizrahi Jews, Ashkenazi Jews,[3][4] Assyrians, Armenians, Azerbaijanis, Druze, Levantines, Kurds, Greeks, Turks and Italians.[5][6][7][8]

The disorder has been given various names, including familial paroxysmal polyserositis, periodic peritonitis, recurrent polyserositis, benign paroxysmal peritonitis, periodic disease or periodic fever, Reimann periodic disease or Reimann syndrome, Siegal-Cattan-Mamou disease, and Wolff periodic disease.[9][10][11] Note that "periodic fever" can also refer to any of the periodic fever syndromes.

  1. ^ James W, Berger T, Elston D (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. ^ Chae JJ, Wood G, Richard K, Jaffe H, Colburn NT, Masters SL, et al. (September 2008). "The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment". Blood. 112 (5): 1794–803. doi:10.1182/blood-2008-01-134932. PMC 2518886. PMID 18577712.
  3. ^ Stoffman N, Magal N, Shohat T, Lotan R, Koman S, Oron A, et al. (April 2000). "Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups". European Journal of Human Genetics. 8 (4): 307–10. doi:10.1038/sj.ejhg.5200446. PMID 10854115.
  4. ^ Gershoni-Baruch R, Shinawi M, Leah K, Badarnah K, Brik R (August 2001). "Familial Mediterranean fever: prevalence, penetrance and genetic drift". European Journal of Human Genetics. 9 (8): 634–7. doi:10.1038/sj.ejhg.5200672. PMID 11528510.
  5. ^ "Familial Mediterranean fever". Mayo Clinic.
  6. ^ Papadopoulos V, Mitroulis I, Giaglis S (January 2010). "MEFV heterogeneity in Turkish Familial Mediterranean Fever patients". Molecular Biology Reports. 37 (1): 355–8. doi:10.1007/s11033-009-9779-9. PMID 19714479. S2CID 7306747.
  7. ^ Saeed D, Mortaza B, Tooba M (15 December 2010). "The Prevalence of Genetic Disorders in East Azerbaijan Province". Urmia Medical Journal. 21 (4): 339–346.
  8. ^ Stoffman N, Magal N, Shohat T, Lotan R, Koman S, Oron A, et al. (April 2000). "Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups" (PDF). European Journal of Human Genetics. 8 (4): 307–10. doi:10.1038/sj.ejhg.5200446. PMID 10854115.
  9. ^ Dugdale III DC, Vyas J (2010-09-15). "Familial Mediterranean fever - PubMed Health". PubMed Health. National Centre for Biotechnology Information. Archived from the original on 2012-09-10. Retrieved 2011-04-24.
  10. ^ "Siegal-Cattan-Mamou syndrome". Retrieved February 19, 2021.
  11. ^ "Familial Mediterranean fever - Genetics Home Reference". Genetics Home Reference. U.S. National Library of Medicine. 2011-04-14. Archived from the original on 2011-06-05. Retrieved 2011-04-24.

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