Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association

Clin Immunol. 2023 Jun:251:109630. doi: 10.1016/j.clim.2023.109630. Epub 2023 Apr 30.


Behçet disease (BD) and familial Mediterranean fever (FMF) are two inflammatory disorders that share many features including historical background, ethnical distribution and inflammatory characteristics. Several studies suggested that BD and FMF might occur in the same individual more commonly than expected. Additionally, the pathogenic MEFV gene variants, especially p.Met694Val, activating the inflammasome complex have been shown to increase the risk for BD in regions where both FMF and BD are prevalent. Whether these variants are associated with certain disease subtypes and whether they may help in the planning of treatment need to be explored. This review provides a recent overview of the plausible association between FMF and BD and the role of MEFV variants in the pathogenesis of BD.

Keywords: Autoinflammation; Behçet disease; Familial Mediterranean fever; MEFV gene variants.

Publication types

  • Review

MeSH terms

  • Behcet Syndrome* / complications
  • Behcet Syndrome* / genetics
  • Familial Mediterranean Fever* / complications
  • Familial Mediterranean Fever* / genetics
  • Humans
  • Mutation
  • Pyrin / genetics


  • Pyrin
  • MEFV protein, human