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Isolated recurrent pleuritis revealing familial mediterranean Fever in adulthood

J C Lega1, C Khouatra, V Cottin

  • 1Reference Center for Rare Pulmonary Diseases, Department of Respiratory Medicine, Louis Pradel Hospital, Claude Bernard University (Lyon I), Lyon, France.

Respiration; International Review of Thoracic Diseases
|January 7, 2010
PubMed

Insights

Familial Mediterranean fever (FMF) is an autoinflammatory disease. A Tunisian man with atypical FMF experienced pleuritis, which resolved with colchicine and was confirmed by genetic testing.

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder.
  • Characterized by recurrent febrile attacks affecting serous membranes, typically presenting in childhood.
  • Autosomal recessive inheritance pattern common in Mediterranean populations.

Observation:

  • A 26-year-old Tunisian man presented with recurrent febrile episodes of right-sided pleuritis.
  • He had no other systemic or thoracic symptoms.
  • The patient's symptoms resolved after a single dose of colchicine.

Findings:

  • The clinical presentation and response to colchicine suggested an atypical FMF diagnosis.
  • Genetic testing revealed a homozygous M694I/M694I mutation in the MEFV gene.
  • This confirms the genetic basis of the patient's condition.

Implications:

  • Highlights the importance of considering FMF in atypical presentations, even in adults.
  • Demonstrates the diagnostic value of MEFV gene mutation analysis.
  • Emphasizes colchicine's efficacy in managing FMF, even in unusual clinical forms.

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