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[Familial Mediterranean fever. New aspects with respect to molecular genetics and pathogenesis revealed in three case
J Rengelshausen1, M Rünzi, A Canbay
1Abteilung für Nieren- und Hochdruckkrankheiten, Universitätsklinikum Essen.
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.
Insights
Familial Mediterranean fever (FMF) can present with recurrent abdominal pain and fever. Early colchicine treatment is crucial for preventing severe complications like renal amyloidosis in FMF patients.
Area of Science:
- Genetics
- Immunology
- Nephrology
Background:
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder.
- Recurrent episodes of fever and serositis are characteristic of FMF.
- Renal amyloidosis is a serious complication of untreated FMF.
Observation:
- Three young males presented with recurrent acute abdominal pain and fever.
- Clinical presentation included abdominal tenderness and elevated inflammatory markers.
- Histological examination revealed amyloid fibrils in one patient's gastric antrum.
Findings:
- Molecular genetic analysis identified compound heterozygosity for common FMF gene mutations in two patients.
- Symptoms resolved spontaneously, consistent with acute FMF attacks.
- Histological findings supported amyloidosis in one case.
Implications:
- Early diagnosis and treatment of FMF with colchicine can prevent severe outcomes.
- Understanding FMF genetics and pathophysiology aids in early intervention.
- Preventing renal amyloidosis is a key goal in FMF management.