title: Endoscopic and histologic abnormalities of gastrointestinal tract in patients with hereditary hemochromatosis.
abstract: BACKGROUND
  Patients with iron overload frequently complained of upper gastrointestinal (GI) symptoms. This study aimed to systemically evaluate the association between hereditary hemochromatosis (HH) and gut inflammation.
  
  
  METHODS
  HH patients were identified using the ICD-9 codes. Inclusion criteria were patients with primary HH who had esophagogastroduodenoscopy (EGD) and/or colonoscopy with GI biopsies (N=39). Patients undergoing EGD with duodenal biopsy for the indication of "rule out celiac disease" were included in the control group (N=40). GI biopsy specimens were rereviewed and scored.
  
  
  RESULTS
  Of the 39 patients with genetically confirmed primary HH in the study group, 28 (71.8%) had liver biopsy and 25 (89.3%) of them showed iron deposition. Twenty-five patients (64.1%) had EGD and 23 (59.0%) had colonoscopy. Histologic inflammation was identified in the esophagus in 2 patients (8.0%), stomach in 11 (44.0%), duodenum in 2 (8.7%), and colon in 3 (13.0%). Duodenal biopsy specimen was available for rereview in 16 patients (41.0%). Patient demographics were comparable between the 16 cases in the study group and the 40 cases in the control group. On histology, the frequency of intraepithelial lymphocytosis of small intestine was 25.5% in the HH cases versus 2.5% in controls (P=0.020). HH patients also had a greater proportion of intraepithelial neutrophil infiltration (31.2% vs. 2.5%, P=0.006) and lamina propria lymphocyte infiltration (31.2% vs. 0%, P=0.001) than controls.
  
  
  CONCLUSIONS
  GI inflammation was common in HH patients, which from the different perspective, supports the notion that iron overload may lead to GI inflammation.
authors.affiliation: *Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China Departments of †Anatomic Pathology ‡Colorectal Surgery §Gastroenterology/Hepatology, The Cleveland Clinic Foundation, Cleveland, OH.
authors.forename: Wei-Xun
authors.initials: WX
authors.lastname: Zhou
authors.forename: Xian-Rui
authors.initials: XR
authors.lastname: Wu
authors.forename: Ana E
authors.initials: AE
authors.lastname: Bennett
authors.forename: Bo
authors.initials: B
authors.lastname: Shen
mesh_terms: D000368:Aged; D001706:Biopsy; D003113:Colonoscopy; D016145:Endoscopy, Digestive System; D005260:Female; D005767:Gastrointestinal Diseases / Q000453:epidemiology / Q000209:etiology* / Q000503:physiopathology; D041981:Gastrointestinal Tract / Q000503:physiopathology*; D006432:Hemochromatosis / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D007249:Inflammation / Q000453:epidemiology / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged