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Abstract：
BACKGROUND: Autoimmune enteropathy (AIE) is a rare disease whose diagnosis and long-term prognosis remain challenging, especially for adult AIE patients.
OBJECTIVE: To improve overall understanding of this disease\'s diagnosis and prognosis.
METHODS: We retrospectively analyzed the clinical, endoscopic and histopathological characteristics and prognoses of 16 adult AIE patients in our tertiary medical center between 2011 and 2023, whose diagnosis was based on the 2007 diagnostic criteria.
RESULTS: Diarrhea in AIE patients was characterized by secretory diarrhea. The common endoscopic manifestations were edema, villous blunting and mucosal hyperemia in the duodenum and ileum. Villous blunting (100%), deep crypt lymphocytic infiltration (67%), apoptotic bodies (50%), and mild intraepithelial lymphocytosis (69%) were observed in the duodenal biopsies. Moreover, there were other remarkable abnormalities, including reduced or absent goblet cells (duodenum 94%, ileum 62%), reduced or absent Paneth cells (duodenum 94%, ileum 69%) and neutrophil infiltration (duodenum 100%, ileum 69%). Our patients also fulfilled the 2018 diagnostic criteria but did not match the 2022 diagnostic criteria due to undetectable anti-enterocyte antibodies. All patients received glucocorticoid therapy as the initial medication, of which 14/16 patients achieved a clinical response in 5 (IQR: 3-20) days. Immunosuppressants were administered to 9 patients with indications of steroid dependence (6/9), steroid refractory status (2/9), or intensified maintenance medication (1/9). During the median of 20.5 months of follow-up, 2 patients died from multiple organ failure, and 1 was diagnosed with non-Hodgkin\'s lymphoma. The cumulative relapse-free survival rates were 62.5%, 55.6% and 37.0% at 6 months, 12 months and 48 months, respectively.
CONCLUSIONS: Certain histopathological findings, including a decrease or disappearance of goblet and Paneth cells in intestinal biopsies, might be potential diagnostic criteria for adult AIE. The long-term prognosis is still unsatisfactory despite corticosteroid and immunosuppressant medications, which highlights the need for early diagnosis and novel medications.
OBJECTIVE: To improve overall understanding of this disease\'s diagnosis and prognosis.
METHODS: We retrospectively analyzed the clinical, endoscopic and histopathological characteristics and prognoses of 16 adult AIE patients in our tertiary medical center between 2011 and 2023, whose diagnosis was based on the 2007 diagnostic criteria.
RESULTS: Diarrhea in AIE patients was characterized by secretory diarrhea. The common endoscopic manifestations were edema, villous blunting and mucosal hyperemia in the duodenum and ileum. Villous blunting (100%), deep crypt lymphocytic infiltration (67%), apoptotic bodies (50%), and mild intraepithelial lymphocytosis (69%) were observed in the duodenal biopsies. Moreover, there were other remarkable abnormalities, including reduced or absent goblet cells (duodenum 94%, ileum 62%), reduced or absent Paneth cells (duodenum 94%, ileum 69%) and neutrophil infiltration (duodenum 100%, ileum 69%). Our patients also fulfilled the 2018 diagnostic criteria but did not match the 2022 diagnostic criteria due to undetectable anti-enterocyte antibodies. All patients received glucocorticoid therapy as the initial medication, of which 14/16 patients achieved a clinical response in 5 (IQR: 3-20) days. Immunosuppressants were administered to 9 patients with indications of steroid dependence (6/9), steroid refractory status (2/9), or intensified maintenance medication (1/9). During the median of 20.5 months of follow-up, 2 patients died from multiple organ failure, and 1 was diagnosed with non-Hodgkin\'s lymphoma. The cumulative relapse-free survival rates were 62.5%, 55.6% and 37.0% at 6 months, 12 months and 48 months, respectively.
CONCLUSIONS: Certain histopathological findings, including a decrease or disappearance of goblet and Paneth cells in intestinal biopsies, might be potential diagnostic criteria for adult AIE. The long-term prognosis is still unsatisfactory despite corticosteroid and immunosuppressant medications, which highlights the need for early diagnosis and novel medications.
摘要：
背景：自身免疫性肠病（AIE）是一种罕见的疾病，其诊断和长期预后仍然具有挑战性，特别是成人AIE患者。
目的：提高对本病诊断和预后的整体认识。
方法：我们回顾性分析了临床，2011年至2023年期间,我们三级医疗中心的16例成人AIE患者的内镜和组织病理学特征及预后,这些患者的诊断基于2007年的诊断标准.
结果：AIE患者的腹泻特征为分泌性腹泻。常见的内镜表现为水肿，十二指肠和回肠的绒毛钝化和粘膜充血。绒毛钝化(100%),深隐窝淋巴细胞浸润（67%），凋亡体（50％），在十二指肠活检中观察到轻度上皮内淋巴细胞增多（69％）。此外，还有其他显著的异常，包括杯状细胞减少或缺失(十二指肠94%，回肠62%)，潘氏细胞减少或缺失(十二指肠94%，回肠69%)和中性粒细胞浸润(十二指肠100%，回肠69%)。我们的患者也符合2018年的诊断标准，但由于无法检测到抗肠细胞抗体，因此不符合2022年的诊断标准。所有患者均接受糖皮质激素治疗作为初始用药，其中14/16例患者在5（IQR：3-20）天内达到临床缓解。对9例具有类固醇依赖指征的患者使用免疫抑制剂（6/9），类固醇难治性状态（2/9），或强化维持药物治疗（1/9）。在20.5个月的随访中，2例死于多器官功能衰竭,1例诊断为非霍奇金淋巴瘤。累计无复发生存率为62.5%,6个月时分别为55.6%和37.0%，12个月和48个月，分别。
结论：某些组织病理学发现，包括肠道活检中杯状细胞和潘氏细胞的减少或消失，可能是成人AIE的潜在诊断标准。尽管使用皮质类固醇和免疫抑制剂，但长期预后仍不令人满意。这凸显了对早期诊断和新型药物的需求。
目的：提高对本病诊断和预后的整体认识。
方法：我们回顾性分析了临床，2011年至2023年期间,我们三级医疗中心的16例成人AIE患者的内镜和组织病理学特征及预后,这些患者的诊断基于2007年的诊断标准.
结果：AIE患者的腹泻特征为分泌性腹泻。常见的内镜表现为水肿，十二指肠和回肠的绒毛钝化和粘膜充血。绒毛钝化(100%),深隐窝淋巴细胞浸润（67%），凋亡体（50％），在十二指肠活检中观察到轻度上皮内淋巴细胞增多（69％）。此外，还有其他显著的异常，包括杯状细胞减少或缺失(十二指肠94%，回肠62%)，潘氏细胞减少或缺失(十二指肠94%，回肠69%)和中性粒细胞浸润(十二指肠100%，回肠69%)。我们的患者也符合2018年的诊断标准，但由于无法检测到抗肠细胞抗体，因此不符合2022年的诊断标准。所有患者均接受糖皮质激素治疗作为初始用药，其中14/16例患者在5（IQR：3-20）天内达到临床缓解。对9例具有类固醇依赖指征的患者使用免疫抑制剂（6/9），类固醇难治性状态（2/9），或强化维持药物治疗（1/9）。在20.5个月的随访中，2例死于多器官功能衰竭,1例诊断为非霍奇金淋巴瘤。累计无复发生存率为62.5%,6个月时分别为55.6%和37.0%，12个月和48个月，分别。
结论：某些组织病理学发现，包括肠道活检中杯状细胞和潘氏细胞的减少或消失，可能是成人AIE的潜在诊断标准。尽管使用皮质类固醇和免疫抑制剂，但长期预后仍不令人满意。这凸显了对早期诊断和新型药物的需求。
