Familial Mediterranean fever: unusual age of presentation and the role of genetic diagnosis

Familial Mediterranean fever (FMF) is a genetic disease characterized by periodic fever and/or painful inflammatory manifestations. Repeated attacks at irregular intervals and in an unpredictable sequence are typical of the disease. Most of the patients become symptomatic between ages 5 to 15 years. Rarely, the disease may manifest as early as during the first year.Until recently, the diagnosis of FMF was mainly based on the presence of typical clinical picture and dramatic response to colchicine. Recent insight to the genetic basis of the disease has made DNA study available for diagnosis of FMF. We report a 20-month-old Iranian boy with recurrent attacks of abdominal pain and fever since the 4th month of birth. A molecular analysis was carried out, confirming mutation of the FMF-gene.