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[Familial Mediterranean fever]
J O Steiss1, J Wiemann, A Rutz
1Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität Giessen.
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.
Insights
Familial Mediterranean fever (FMF) is a genetic disorder causing febrile attacks. Early FMF gene investigation and colchicine treatment can prevent severe complications like amyloidosis.
Area of Science:
- Genetics
- Internal Medicine
Background:
- Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder.
- Characterized by recurrent febrile attacks, abdominal pain, pleuritis, or arthritis.
- Predominantly affects Mediterranean and Middle Eastern ethnic groups.
- Amyloidosis is a severe complication, potentially leading to chronic renal failure.
Observation:
- A 10-year-old Turkish boy presented with recurrent acute abdominal pain and elevated white blood cell count.
- Molecular analysis confirmed a mutation in the FMF gene.
- The patient experienced symptom resolution after initiating colchicine therapy.
Findings:
- Genetic investigation of the FMF gene enables early diagnosis of Familial Mediterranean fever.
- Identification of FMF gene mutations is crucial for timely intervention.
Implications:
- Early diagnosis and treatment with colchicine can prevent the development of amyloidosis.
- Colchicine therapy is effective in managing FMF symptoms and preventing long-term complications.
- Genetic screening for FMF mutations is recommended in individuals with suggestive clinical findings.