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Gastrointestinal mucosal involvement without amyloidosis in children with familial Mediterranean fever
Odul Egritas Gurkan1, Buket Dalgic
1Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey. odulmd2003@yahoo.com
Background And Objectives:
Familial Mediterranean fever (FMF) and inflammatory bowel disease togetherness is well described in the literature. Abdominal pain and various gastrointestinal manifestations may arise directly from FMF or secondary to FMF-associated diseases such as inflammatory bowel disease, vasculitidies, or amyloidosis. The aim of the study was to document gastrointestinal involvement in familial Mediterranean fever.
Methods:
The medical files of the patients who were diagnosed as having FMF at the Department of Pediatric Gastroenterology, Gazi University School of Medicine between 2007 and 2012 were examined retrospectively. FMF diagnosis was made through performing clinical, laboratory, colonoscopy, endoscopy, and genetic analysis.
Results:
Thirty-six patients were diagnosed as having FMF during this period. Among them, 11 patients were admitted with vomiting or diarrhea. Colonoscopy and upper gastrointestinal endoscopy were performed. Colonic inflammation and multiple gastric aphthous ulcerations were observed.
Conclusions:
In this report, we described 11 patients who presented with gastrointestinal symptoms and eventually diagnosed as having FMF. Gastrointestinal mucosal involvement without amyloidosis is documented by endoscopic and histopathologic investigations in these patients. We concluded that mucosal involvement of the gastrointestinal tract may be attack-related manifestations in these patients.
Insights
Familial Mediterranean fever (FMF) can cause gastrointestinal issues. This study found that FMF patients can experience mucosal inflammation and ulcers in the stomach and colon, even without amyloidosis.
Area of Science:
- Pediatric Gastroenterology
- Rheumatology
- Genetics
Background:
- Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder.
- Gastrointestinal (GI) manifestations are common in FMF, potentially linked to co-occurring conditions like inflammatory bowel disease.
- GI symptoms can also arise directly from FMF or its associated complications such as vasculitis or amyloidosis.
Purpose of the Study:
- To investigate and document the spectrum of gastrointestinal involvement in pediatric patients diagnosed with Familial Mediterranean fever.
- To characterize the endoscopic and histopathologic findings of GI mucosal involvement in FMF.
Main Methods:
- Retrospective analysis of medical records of pediatric FMF patients diagnosed between 2007 and 2012.
- Diagnostic methods included clinical evaluation, laboratory tests, colonoscopy, upper GI endoscopy, and genetic analysis.
- Focus on patients presenting with GI symptoms like vomiting or diarrhea.
Main Results:
- Eleven out of 36 pediatric FMF patients presented with significant gastrointestinal symptoms, primarily vomiting and diarrhea.
- Endoscopic examination revealed colonic inflammation and multiple gastric aphthous ulcerations in these patients.
- Histopathologic investigations confirmed GI mucosal involvement, notably in the absence of amyloidosis.
Conclusions:
- Gastrointestinal mucosal involvement, including inflammation and ulceration, is a documented manifestation in pediatric FMF patients.
- These findings can occur independently of amyloidosis, suggesting a direct link to FMF activity.
- GI symptoms and mucosal changes may represent attack-related manifestations of Familial Mediterranean fever.
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