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A rare cause of ascites: Familial Mediterranean fever

Mehmet Bektaş1, Irfan Soykan, Deniz Gören

  • 1Department of Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey. mbektas70@hotmail.com

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology
|April 4, 2008
PubMed

Insights

Familial Mediterranean fever (FMF) can cause chronic ascites, a rare symptom. Genetic testing and colchicine therapy are key for diagnosing and managing this FMF complication.

Area of Science:

  • Genetics
  • Internal Medicine
  • Rheumatology

Background:

  • Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder.
  • Characterized by recurrent fever and serosal inflammation, FMF typically involves mild, transient peritoneal effusion.
  • Chronic ascites is an uncommon manifestation of FMF.

Observation:

  • This study investigated four patients with unexplained chronic ascites and recurrent fevers since childhood.
  • These patients had no other identifiable cause for their ascites.
  • Genetic analysis revealed specific mutations associated with FMF in all cases.

Findings:

  • Genetic analysis confirmed Familial Mediterranean fever (FMF) in all four patients.
  • Specific genotypes included M694V homozygosity, M694V heterozygosity, and M694V/V726A compound heterozygosity.
  • Ascites resolved in all patients following colchicine treatment.

Implications:

  • Familial Mediterranean fever (FMF) should be considered in the differential diagnosis of ascites of unknown etiology, especially in endemic regions.
  • Genetic testing is crucial for accurate FMF diagnosis.
  • Colchicine therapy is effective for managing FMF-associated ascites.

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