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[Familial Mediterranean fever (familial paraoxysmal polyserositis)]

J Dlugosch1, G Altrock, H Klepzig

  • 1Medizinische Klinik I, Klinikum Offenbach/Main, Offenbach.

Deutsche Medizinische Wochenschrift (1946)
|July 4, 2003
PubMed
Abstract

Insights

Familial Mediterranean fever (FMF) is a genetic disorder characterized by recurrent fevers and pain. Early diagnosis and colchicine treatment can prevent severe complications and unnecessary surgeries.

Area of Science:

  • Genetics
  • Internal Medicine
  • Rheumatology

Background:

  • Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder.
  • It is characterized by recurrent episodes of fever and serositis.
  • Genetic mutations in the MEFV gene are implicated in FMF pathogenesis.

Observation:

  • A 48-year-old Iranian male presented with a 33-year history of recurrent fever and abdominal pain.
  • He experienced chest pain, abdominal tenderness, and fever (38.5°C).
  • Elevated CRP (183 mg/l), microalbuminuria (20 mg/l), and serum amyloid A protein (865 mg/l) were noted. Chest X-ray showed bilateral pleural effusions.

Findings:

  • Genetic testing confirmed a mutation in the Marenostrin/Pyrin (MEFV) gene.
  • Diagnosis of FMF was established based on clinical history, ethnicity, and genetic findings.
  • Colchicine therapy (3 x 0.5 mg/day) led to rapid symptom resolution.

Implications:

  • FMF should be suspected in individuals with recurrent abdominal or chest pain and fever, especially those from relevant ethnic backgrounds.
  • Timely diagnosis and treatment with colchicine can prevent disease progression, unnecessary surgical interventions, and chronic pain.
  • Early management may avert complications such as amyloidosis and prolonged hospitalization.

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