Enache Iulia, Nedelcu Ioan-Cristian, Balaban Marina, Balaban Daniel Vasile, Popp Alina, Jinga Mariana
Internal Medicine and Gastroenterology Department, University of Medicine and Pharmacy "Dr. Carol Davila", 020021 Bucharest, Romania.
Department of Gastroenterology, Dr. Carol Davila Central Military Emergency University Hospital, 010825 Bucharest, Romania.
Diagnostics (Basel). 2025 Jun 13;15(12):1511. doi: 10.3390/diagnostics15121511.
Various enteropathies, including immune-mediated (IME) and infection-related conditions, can lead to small intestinal mucosal injury and malabsorption. While immune dysregulation plays a central role in diseases like celiac disease and autoimmune enteropathy, other conditions such as small intestinal bacterial overgrowth (SIBO) and tropical sprue (TS) involve infectious or microbial pathogenesis. Common clinical manifestations include weight loss, chronic diarrhea, and nutritional deficiencies. While celiac disease (CD) remains the most prevalent IME in adults, an expanding spectrum of non-celiac enteropathies has been recognized, including autoimmune enteropathy (AIE), common variable immunodeficiency disease (CVID), olmesartan-induced enteropathy, tropical sprue, and small intestinal bacterial overgrowth. These conditions often present with overlapping clinical, serological, and histological features, complicating their differentiation from CD. Accurate diagnosis is critical for the timely initiation of effective treatment to prevent disease progression and associated complications such as severe malabsorption and enteropathy-associated T-cell lymphoma (EATL). The small intestine plays a dual role in nutrient absorption and immune regulation, making it uniquely vulnerable to immune dysregulation. In IMEs, hyperactive immune responses disrupt intestinal homeostasis, leading to mucosal damage and impaired nutrient absorption. Although CD is the prototypical IME, increasing the recognition of non-celiac IMEs, it highlights the need for a more nuanced approach to small bowel biopsy interpretation. This review explores the histopathological and clinical features of common IMEs, with a focus on distinguishing non-celiac disorders that mimic CD. By enhancing the understanding of these conditions, this review aims to improve diagnostic accuracy, facilitate appropriate therapeutic interventions, and mitigate complications associated with delayed or misdiagnosis. A multidisciplinary approach involving gastroenterologists and pathologists is emphasized to optimize outcomes for patients with IMEs. Immune-mediated enteropathies result from an abnormal immune response of the small intestinal mucosa to non-pathogenic molecules, often leading to malabsorption syndrome. The most common symptoms include weight loss, chronic diarrhea, and nutritional deficiencies. While celiac disease (CD) is the most well-known immune-mediated enteropathy (IME) in adults, other related disorders have been identified in recent years. These conditions share many clinical and histopathological features, therefore making differentiations between them challenging. This study aims to review the most common immune-mediated enteropathies, with a focus on non-celiac disorders that should be considered in the differential diagnosis of celiac disease in small bowel biopsies.
各种肠道疾病,包括免疫介导性(IME)和感染相关疾病,均可导致小肠黏膜损伤和吸收不良。虽然免疫失调在乳糜泻和自身免疫性肠病等疾病中起核心作用,但小肠细菌过度生长(SIBO)和热带口炎性腹泻(TS)等其他疾病涉及感染性或微生物发病机制。常见临床表现包括体重减轻、慢性腹泻和营养缺乏。虽然乳糜泻(CD)仍是成人中最常见的免疫介导性疾病,但已认识到非乳糜泻性肠病的范围不断扩大,包括自身免疫性肠病(AIE)、常见可变免疫缺陷病(CVID)、奥美沙坦诱导的肠病、热带口炎性腹泻和小肠细菌过度生长。这些疾病常具有重叠的临床、血清学和组织学特征,使其与CD的鉴别变得复杂。准确诊断对于及时开始有效治疗以预防疾病进展和相关并发症(如严重吸收不良和肠病相关T细胞淋巴瘤(EATL))至关重要。小肠在营养吸收和免疫调节中起双重作用,使其特别容易受到免疫失调的影响。在免疫介导性疾病中,过度活跃的免疫反应破坏肠道内环境稳定,导致黏膜损伤和营养吸收受损。虽然CD是典型的免疫介导性疾病,但对非乳糜泻性免疫介导性疾病的认识不断增加,这凸显了对小肠活检解读需要更细致入微的方法。本综述探讨了常见免疫介导性疾病的组织病理学和临床特征,重点是区分模仿CD的非乳糜泻性疾病。通过加强对这些疾病的了解,本综述旨在提高诊断准确性,促进适当的治疗干预,并减轻与诊断延迟或误诊相关的并发症。强调采用胃肠病学家和病理学家参与的多学科方法,以优化免疫介导性疾病患者的治疗效果。免疫介导性肠病是由小肠黏膜对非致病分子的异常免疫反应引起的,常导致吸收不良综合征。最常见的症状包括体重减轻、慢性腹泻和营养缺乏。虽然乳糜泻(CD)是成人中最知名的免疫介导性肠病(IME),但近年来已发现其他相关疾病。这些疾病具有许多临床和组织病理学特征,因此它们之间的鉴别具有挑战性。本研究旨在综述最常见的免疫介导性肠病,重点是在小肠活检中乳糜泻鉴别诊断时应考虑的非乳糜泻性疾病。