Familial Mediterranean Fever

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