Familial Mediterranean fever: New aspects for molecular genetics and pathogenesis illustrated by three case reports

History and Clinical Presentation: Three young Turkish males were admitted because of acute abdominal pain and fever. All 3 patients had recurrent att acks of these symptoms every few weeks since years with each attack lasting 2 to 3 days. One patient developed a renal amyloidosis with an end-stage r enal failure. Diagnostics and Clinical Course: All patients presented with local abdomina l tenderness and an elevation of inflammatory parameters (WBC, ESR, CRP and fibrinogen). X-ray studies, ultrasound and upper endoscopy were normal. In 1 patient histology yielded amyloid fibrils in the antrum of the stomach. In a molecular genetic analysis 2 patients were compound heterozygous for 2 common mutations of the gene responsible for the familial Mediterranean fe ver (FMF). In all patients the symptoms vanished spontaneously according to an acute attack of FMF. After symptomatic treatment a prophylaxis with col chicine was started. Conclusion: Cloning of the FMF gene and its mutations and identification of the gene product "pyrin" reveals new aspects on genetics and pathophysiolo gy. The improved diagnostic procedure enables an early start of colchicine treatment, especially to prevent renal amyloidosis.