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Key Features

  • Episodic bouts of acute peritonitis associated with serositis involving the joints and pleura

  • Rare autosomal recessive disorder

  • Almost exclusively affects people of Mediterranean ancestry, especially Sephardic Jews, Armenians, Turks, and Arabs

  • Patients lack a protease in serosal fluids that normally inactivates interleukin-8 and complement factor 5A

Clinical Findings

  • Symptom onset before the age of 20

  • Fever

  • Severe abdominal pain and abdominal tenderness with guarding or rebound tenderness

  • Joint pain, inflammation

  • Pleuritic chest pain, pleural effusion

  • Secondary amyloidosis (renal, hepatic) occurs in 25% of cases and can lead to death

Diagnosis

  • Usually a clinical diagnosis

  • Gene responsible for familial Mediterranean fever (MEFV) has been identified

  • Genetic tests fail to identify known gene mutation in one-third of patients

Treatment

  • Untreated, attacks resolve within 24–48 hours

  • Patients may undergo unnecessary exploratory laparotomy

  • Colchicine, 0.6 mg two or three times daily orally

    • Decreases the frequency and severity of attacks

    • Can prevent or arrest amyloidosis

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