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An infant with severe refractory Crohn's disease and homozygous MEFV mutation who dramatically responded to

Zarife Kuloğlu1, Aydan Kansu, Gonca Ustündağ

  • 1Department of Pediatric Gastroenterology, School of Medicine, Ankara University, Ankara, Turkey. zarifekuloglu@yahoo.com

Rheumatology International
|January 6, 2010
PubMed

Insights

Familial Mediterranean fever (FMF) may be linked to severe Crohn's disease (CD) in infants. Early colchicine treatment showed partial remission in a CD infant with FMF, suggesting FMF should be considered in resistant CD cases.

Area of Science:

  • Pediatric Gastroenterology
  • Genetics
  • Immunology

Background:

  • Familial Mediterranean fever (FMF) is an autoinflammatory disorder.
  • Previous studies suggest a higher prevalence and severity of inflammatory bowel disease (IBD) in FMF families.
  • Crohn's disease (CD) is a type of IBD.

Observation:

  • An 8-month-old infant presented with chronic bloody diarrhea, failure to thrive, and high fever.
  • The infant was diagnosed with Crohn's disease (CD) but showed resistance to intensive medical therapies.
  • Genetic analysis revealed a homozygous M694V mutation in the MEFV gene, indicative of FMF.

Findings:

  • The infant was diagnosed with both Crohn's disease (CD) and Familial Mediterranean fever (FMF).
  • Colchicine therapy, initiated alongside existing treatments for CD, led to partial remission within two weeks.
  • This case represents the first reported instance of co-occurring CD and FMF in an infant.

Implications:

  • The findings suggest a potential association between FMF and severe, medically refractory CD in pediatric patients.
  • Considering FMF in infants with refractory CD, particularly in regions where FMF is endemic, is crucial for effective management.
  • Early diagnosis and targeted therapy for FMF may improve outcomes for infants with co-existing inflammatory bowel disease.

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