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.
Keywords: early detection; iron overload; phenotype.
© 2025 The Author(s). JPGN Reports published by Wiley Periodicals LLC on behalf of The European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.