Coexistence of polymyositis and familial Mediterranean fever

Mod Rheumatol. 2013 Mar;23(2):374-8. doi: 10.1007/s10165-012-0649-2. Epub 2012 Apr 25.

Abstract

Familial Mediterranean fever (FMF) is an autosomal recessive disease affecting populations surrounding the Mediterranean area. In this case report, we report a Japanese female patient with polymyositis (PM) who presented with periodic fever. Genetic analysis revealed that she had compound heterozygous mutations in exon 2 of the MEFV gene (L110P/E148Q/R202Q). Treatment with colchicines (1.0 mg/day) successfully eliminated febrile attack and normalized the elevated levels of neutrophil CD64 expression, leading to the diagnosis of FMF. The association of FMF and PM has not previously been reported, so we discuss this rare association.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Colchicine / therapeutic use
  • Cytoskeletal Proteins / genetics
  • DNA Mutational Analysis
  • Familial Mediterranean Fever / complications*
  • Familial Mediterranean Fever / drug therapy
  • Familial Mediterranean Fever / genetics
  • Female
  • Heterozygote
  • Humans
  • Mutation
  • Polymyositis / complications*
  • Polymyositis / drug therapy
  • Polymyositis / genetics
  • Pyrin
  • Treatment Outcome

Substances

  • Cytoskeletal Proteins
  • MEFV protein, human
  • Pyrin
  • Colchicine