Background: Familial Mediterranean fever (FMF) is characterized by febrile attacks, acute abdominal pain, pleuritis or arthritis and predominantly observed in ethnic groups of the Mediterranean area (Sephardic Jews, Turks, Armenians). Its most ominous manifestation is amyloidosis potentially leading to chronic renal failure. FMF is an inherited disorder caused by mutations of the FMF-gene, which first was described in 1997.
Case report: We report a 10-year old turkish boy and his family presenting with an increased blood sedimentation rate (WBC) and recurrent attacks of acute abdominal pain. A molecular analysis was carried out, confirming a typical mutation of the FMF-gene. The patient remained free of symptoms after starting therapy with colchicine.
Conclusion: Investigation of the FMF gene enables an early diagnosis in case of clinical suspect findings, subsequent colchicine administration may prevent amyloidosis.