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[A three-year-old girl with abdominal pain and fever]

Christine Olbjørn1, Hans-Olav Fjaerli

  • 1colb@ahus.no

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|March 13, 2010
PubMed

Insights

Familial Mediterranean fever (FMF) and coeliac disease co-occurred in a young patient. Colchicine treatment effectively reduced FMF symptom frequency, highlighting its importance in managing this rare condition.

Area of Science:

  • Genetics
  • Immunology
  • Gastroenterology

Background:

  • Familial Mediterranean fever (FMF) is a rare autoinflammatory disorder.
  • Coeliac disease is an autoimmune condition triggered by gluten.
  • Concurrent diagnosis presents diagnostic challenges.

Observation:

  • A pediatric patient presented with recurrent fevers and abdominal pain.
  • Initial investigations suggested coeliac disease, confirmed by biopsy.
  • Despite a gluten-free diet, symptoms persisted, prompting suspicion of FMF.

Findings:

  • Genetic testing confirmed homozygosity for the MEFV gene mutation, diagnosing FMF.
  • Colchicine therapy was initiated for FMF.
  • Treatment led to a decrease in the frequency of febrile episodes.

Implications:

  • This case highlights the importance of considering co-occurring autoinflammatory and autoimmune conditions.
  • Early diagnosis and appropriate treatment, such as colchicine for FMF, are crucial.
  • Managing both conditions requires a comprehensive approach to improve patient outcomes.
Abstract

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