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[Familial Mediterranean fever].

J O Steiss1, J Wiemann, A Rutz

  • 1Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität Giessen.

Klinische Padiatrie
|April 18, 2001
PubMed
Summary

Familial Mediterranean fever (FMF) is a genetic disorder causing febrile attacks. Early FMF gene investigation and colchicine treatment can prevent severe complications like amyloidosis.

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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.

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