Zhou Wei-Xun, Wu Xian-Rui, Bennett Ana E, Shen Bo
*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.
J Clin Gastroenterol. 2014 Apr;48(4):336-42. doi: 10.1097/MCG.0b013e3182a9be10.
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.
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.
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.
GI inflammation was common in HH patients, which from the different perspective, supports the notion that iron overload may lead to GI inflammation.
铁过载患者经常抱怨有上消化道（GI）症状。本研究旨在系统评估遗传性血色素沉着症（HH）与肠道炎症之间的关联。
使用国际疾病分类第九版（ICD-9）编码识别HH患者。纳入标准为患有原发性HH且接受了食管胃十二指肠镜检查（EGD）和/或结肠镜检查并取了胃肠道活检组织的患者（N = 39）。因“排除乳糜泻”指征而接受十二指肠活检的EGD患者被纳入对照组（N = 40）。对胃肠道活检标本进行重新评估并评分。
研究组中39例经基因确诊的原发性HH患者，28例（71.8%）进行了肝脏活检，其中25例（89.3%）显示有铁沉积。25例（64.1%）患者接受了EGD检查，23例（59.0%）接受了结肠镜检查。2例（8.0%）患者食管出现组织学炎症，11例（44.0%）胃部出现炎症，2例（8.7%）十二指肠出现炎症，3例（13.0%）结肠出现炎症。16例患者（41.0%）的十二指肠活检标本可供重新评估。研究组的16例患者与对照组的40例患者在人口统计学特征上具有可比性。组织学检查显示，HH患者小肠上皮内淋巴细胞增多症的发生率为25.5%，而对照组为2.5%（P = 0.020）。HH患者上皮内中性粒细胞浸润比例（31.2%对2.5%，P = 0.006）和固有层淋巴细胞浸润比例（31.2%对0%，P = 0.001）也高于对照组。
HH患者中胃肠道炎症很常见，这从不同角度支持了铁过载可能导致胃肠道炎症这一观点。
