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Coexistence of polymyositis and familial Mediterranean fever

Mami Eguchi1, Taiichiro Miyashita, Haruka Shirouzu

  • 1Department of General Internal Medicine and Rheumatology, Clinical Research Center, NHO National Nagasaki Medical Center, Kubara 2-1001-1, Omura 856-8652, Japan.

Modern Rheumatology
|April 27, 2012
PubMed

Insights

Familial Mediterranean fever (FMF), a rare genetic disorder, was diagnosed in a Japanese polymyositis patient presenting with periodic fevers. Colchicine treatment effectively resolved symptoms, confirming the FMF diagnosis.

Area of Science:

  • Genetics
  • Rheumatology
  • Internal Medicine

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease prevalent in Mediterranean populations.
  • Polymyositis (PM) is an inflammatory myopathy characterized by muscle weakness.

Observation:

  • A Japanese female patient with polymyositis presented with recurrent episodes of fever.
  • Genetic analysis identified compound heterozygous mutations (L110P/E148Q/R202Q) in exon 2 of the MEFV gene.

Findings:

  • Treatment with colchicine (1.0 mg/day) successfully resolved the febrile attacks.
  • Colchicine normalized elevated neutrophil CD64 expression levels, supporting the FMF diagnosis.

Implications:

  • This case report highlights a rare association between FMF and polymyositis.
  • The findings suggest FMF should be considered in patients with PM and periodic fevers, even outside typical ethnic groups.

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