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Inflammatory bowel disease and hereditary hemochromatosis: A case series
Jackson Fein1, Amber Hildreth2,1, Lillian J Choi2,1
1Department of Pediatrics University of California San Diego La Jolla California.
Insights
This case series highlights three pediatric patients with inflammatory bowel disease (IBD) and hereditary hemochromatosis (HH) gene variants. These findings suggest a potential increased risk for colitis and colon cancer in affected children.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Hepatology
Background:
- Inflammatory bowel disease (IBD) and hereditary hemochromatosis (HH) are distinct conditions.
- HFE gene variants are the primary cause of HH type 1.
- Mice models indicate a potential link between HFE variants and gastrointestinal inflammation.
Purpose of the Study:
- To describe the clinical course of pediatric IBD patients with HFE variants.
- To investigate the overlap between IBD, HH, and iron overload.
- To review current literature on HH screening, management, and iron management in IBD.
Main Methods:
- Case series of three pediatric patients.
- Review of clinical data focusing on IBD, iron overload, and HFE-related comorbidities.
- Literature review of HH and IBD overlap and management strategies.
Main Results:
- Detailed clinical course of three pediatric patients with IBD and HFE variants.
- Exploration of iron overload and associated comorbidities.
- Synthesis of existing knowledge on HH and IBD interactions.
Conclusions:
- Pediatric patients with IBD and HFE variants require careful monitoring for iron overload and associated risks.
- Further research is needed to elucidate the complex relationship between HFE, IBD, and gastrointestinal cancer risk.
- Guidelines for screening and management of HH in IBD patients should be considered.
Abstract:
We report a case series of three pediatric patients with inflammatory bowel disease (IBD) and variants in HFE which causes hereditary hemochromatosis (HH) type 1. Mice models suggest that these patients may be at increased risk for colitis and colon cancer. We detail the clinical course of these patients regarding IBD and iron overload and HFE-related comorbidities. We also review the known literature regarding HH and IBD overlap, HH detection and screening recommendations, HH management strategies, and iron management strategies in the context of both iron overload risk and IBD.
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