Short attacks of fever, usually lasting 1-3 days, recurring at varying intervals (periodic), cf Behcet’s.
Most children develop severe abdominal pain with the episodes, due to sterile peritonitis.
Pleuritis, leading to chest pain, arthritis, myalgia and skin rashes may also occur.
Most cases are from Arabic Turkish, Armenian or Jewish background. Inheritance is autosomal recessive. The gene has been cloned and four mutations have been identified.
Colchicine is the treatment of choice. Some patients may develop amyloidosis; certain mutations are at higher risk.