• Giovanni Maconi, Laura Obici, Stefania Carmagnola, and Stefano Guzzetti.
• Gastroenterology Unit, Department of Biomedical and Clinical Sciences, ASST Fatebenefratelli-Sacco Hospital, University of Milan, Italy. giovanni.maconi@unimi.it.
• Clin Exp Rheumatol. 2018 Jan 1; 36 Suppl 110 (1): 39-43.

AbstractAutoinflammatory diseases (AIDs) usually present with acute abdominal pain and fever, both of which are also the main causes of referral in the emergency department. As some patients with acute abdominal pain may be discharged from the emergency department without a definitive diagnosis, it is not surprising that, due to their rarity, most cases of AID remain undiagnosed or are misdiagnosed as acute appendicitis. Indeed, the diagnosis of familial Mediterranean fever and autoinflammatory syndromes requires a high index of suspicion and careful assessment of clinical history. Age of onset and clinical features, in particular the self-limiting acute attacks, together with prodromal symptoms and trigger factors, are useful to suspect these dis- orders. In addition, discrepancies in laboratory tests that show an increase in acute phase reactants as well as diagnostic imaging, which usually fails to show specific abdominal disorders, may help in the identification of patients who require genetic testing to confirm a diagnosis of AID.

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