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A Case of Atypical Familial Mediterranean Fever With Pseudopolyposis-Like Mucosal Changes in the Ileum

Hiroyuki Ariga1, Maaya Nakashima2, Akiko Mikada2

  • 1Department of Gastroenterology, Mito Kyodo General Hospital, Mito, JPN.

Cureus
|April 8, 2024
PubMed

Insights

A 15-year-old male with recurrent fevers was diagnosed with atypical familial Mediterranean fever (FMF). Genetic testing confirmed a MEFV gene mutation, and colchicine treatment resolved his symptoms.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder.
  • Recurrent fevers and abdominal symptoms can mimic other conditions like inflammatory bowel disease (IBD).
  • Early diagnosis and treatment are crucial for managing FMF and preventing complications.

Observation:

  • A 15-year-old male presented with recurrent fevers, headaches, and malaise.
  • Imaging revealed enlarged ileocecal lymph nodes, prompting differential diagnosis between FMF and IBD.
  • Endoscopic findings excluded IBD, increasing suspicion for FMF.

Findings:

  • Genetic testing identified a P369S-R408Q mutation in the MEFV gene.
  • The patient was diagnosed with atypical FMF based on clinical presentation and genetic findings.
  • Colchicine treatment led to significant symptom improvement.

Implications:

  • This case highlights the importance of considering atypical FMF in pediatric patients with recurrent fevers and abdominal symptoms.
  • Genetic testing is essential for confirming FMF diagnosis, especially in atypical presentations.
  • Prompt diagnosis and colchicine therapy can effectively manage FMF, improving patient outcomes and quality of life.
Keywords:
colchicinefamilial mediterranean feverinflammatory bowel diseasemefv geneperiodic fever

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