Autoimmune enteropathy (AIE) is a rare disorder characterized by severe diarrhea and small intestinal mucosal atrophy resulting from immune-mediated injury. It remains a challenging diagnosis because of its clinicopathologic variability. To better understand its histopathologic features, we describe the gastrointestinal biopsy findings of 25 patients, including children and adults. The most common finding on small intestinal biopsy (13/25 cases, 52%) was villous blunting, expansion of the lamina propria by mixed but predominantly mononuclear inflammation, and neutrophilic cryptitis with or without crypt microabscesses. In 5 cases (20%), the duodenum exhibited changes indistinguishable from celiac disease, with villous blunting and intraepithelial lymphocytosis. Increased crypt apoptosis with minimal inflammation, resembling acute graft-versus-host disease, was observed in 4 cases (16%). The remaining 3 cases (12%) exhibited a mixture of 2 or more of the above patterns. Mucosal abnormalities outside the small intestine were present in all 24 cases with available biopsies (100%), with the stomach most commonly affected (19/22 cases, 86%), followed by the colon (14/22, 64%) and esophagus (5/18, 28%). Findings in non-small intestinal sites were variable and included mixed active and chronic inflammation, chronic inflammation alone, intraepithelial lymphocytosis, and increased apoptosis resembling acute graft-versus-host disease. In summary, AIE most commonly presents as an active enteritis with villous blunting and expansion of the lamina propria by mixed inflammation. Mucosal abnormalities are frequently seen elsewhere in the gut. AIE may thus be better regarded as a pan-gastrointestinal autoimmune disorder, and biopsies from sites other than the small intestine may greatly facilitate its diagnosis.
自身免疫性肠病 (AIE)是一种罕见疾病，特点为自身免疫损伤造成的严重腹泻和小肠黏膜萎缩。因其临床病理多变，该病的诊断依然具有挑战性。为了更好地理解其组织病理特点，我们回顾性研究了25例成人及儿童患者的胃肠活检标本。小肠活检最常见的发现是(13/25, 52%) 绒毛变钝、固有层因单核细胞为主的混合型炎症所致的增宽、中性粒细胞性隐窝炎伴或不伴隐窝微脓肿。5例(20%)十二指肠活检病变与乳糜泻难以区别，表现为绒毛变钝、上皮内淋巴细胞增多。4例（16%）见到隐窝凋亡增加、炎症不明显，类似急性移植物抗宿主病。余下3例 (12%) 显示上述模式的2种及以上混合。24例活检标本中均见到小肠外的黏膜异常 (100%)，最常见胃(19/22, 86%)，继之以结肠(14/22, 64%)和食管(5/18, 28%)。非小肠部位的病变包括活动性-慢性炎症混合型、仅有慢性炎症、上皮内淋巴细胞增多、类似急性移植物抗宿主的凋亡增加。