History and clinical presentation: Three young Turkish males were admitted because of acute abdominal pain and fever. All 3 patients had recurrent attacks 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 renal failure.
Diagnostics and clinical course: All patients presented with local abdominal 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 fever (FMF). In all patients the symptoms vanished spontaneously according to an acute attack of FMF. After symptomatic treatment a prophylaxis with colchicine was started.
Conclusion: Cloning of the FMF gene and its mutations and identification of the gene product "pyrin" reveals new aspects on genetics and pathophysiology. The improved diagnostic procedure enables an early start of colchicine treatment, especially to prevent renal amyloidosis.