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A Japanese case of familial Mediterranean fever with a MEFV gene mutation

Hidenobu Kawabata1, Manabu Murakami, Ryuta Nishikomori

  • 1Department of Healthcare Systems Research, Hokkaido University, Graduate School of Medicine, Sapporo 060-8638, Japan.

[Hokkaido Igaku Zasshi] the Hokkaido Journal of Medical Science
|December 17, 2009
PubMed

Insights

Familial Mediterranean fever (FMF) is rare in Japan, but a 17-year-old male was diagnosed based on recurrent fever, chest pain, and an MEFV gene mutation. Early clinical recognition is crucial due to the lack of specific diagnostic tests.

Area of Science:

  • Genetics
  • Immunology
  • Internal Medicine

Background:

  • Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder.
  • It is characterized by recurrent episodes of fever and serositis.
  • FMF is primarily described in Mediterranean and Middle Eastern ethnic groups.

Observation:

  • A 17-year-old Japanese male presented with a 3-year history of episodic chest pain and fever.
  • Attacks were short (1-3 days) and recurrent, with complete well-being between episodes.
  • Genetic testing identified a mutation in the Mediterranean fever gene (MEFV), specifically M6941.

Findings:

  • The patient's clinical presentation and genetic findings were consistent with FMF.
  • This case highlights the occurrence of FMF in a Japanese individual, a population not typically associated with the disease.
  • The diagnosis relied on characteristic clinical symptoms and molecular confirmation due to the absence of commercial diagnostic tests.

Implications:

  • This case underscores the importance of considering FMF in individuals of diverse ethnic backgrounds presenting with suggestive symptoms.
  • Recognizing the clinical phenotype is critical for timely diagnosis and management of FMF, especially in regions with limited reported cases.
  • Further research may elucidate the prevalence and specific genetic variations of FMF in East Asian populations.

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