- Hereditary autoinflammatory disease resulting in cytokine production in the absence of a pathogenic external stimuli.
- Most prevalent in Turkish, Armenian and North African populations
- Clinical
- Presents with abdominal pain, distention and signs of peritonism on examination due to inflammation of the peritoneum.
- Fever lasting 12–36 h is an important associated diagnostic feature.
- Patients may have a history of exploratory abdominal surgery without pathological findings as well as large joint monoarthritis or pleuritis resulting from prior synovial or pleural (mesothelial) inflammatory processes.
- Over time, recurrent peritonitis can result in bowel obstruction due to the formation of inflammatory adhesions.
- Diangosis
- Investigations during an acute attack show elevated inflammatory markers with a neutrophilia.
- Genetic testing looking for the characteristic MEFV gene mutations that cause the disorder confirms the diagnosis.
- Acute flares should be treated with nonsteroidal anti-inflammatory drugs, colchicine and the avoidance of surgery where possible.
- Patients should also be referred to a rheumatologist for ongoing treatment and clinical monitoring