[Diverticulitis? Pleurisy? No! Familial Mediterranean fever? Yes!]

Abstract

This case study illustrates the difficulties in diagnosing rare diseases, specifically familial mediterranean fever.Familial mediterranean fever classically presents with recurrent episodes of fever. It is often associated with peritonitis, pleuritis or arthritis.The diagnosis can be made clinically, although genetic diagnostics should always be performed.Early diagnosis is important, as the symptoms can usually be treated well with consistent colchicine therapy and the risk of life-threatening amyloidosis can be reduced.