系统性硬化症的胃肠道表现：筛查和管理以改善预后

文献信息

中文摘要

背景： 胃肠道（GI）受累是系统性硬化症（SSc）最常见和临床上最重要的表现之一，影响高达90%的患者，并显著导致发病率和生活质量下降。SSc相关的GI疾病由微血管损伤、肠神经系统功能障碍以及进行性平滑肌萎缩伴纤维化引起，导致整个胃肠道广泛的运动障碍。临床受累可从口腔延伸到肛门直肠，其中食管功能障碍、胃食管反流病（GERD）、胃轻瘫、小肠细菌过度生长（SIBO）和肠道假性梗阻是主要表现。最近的诊断进展，包括高分辨率食管测压（HRM）、动态pH-阻抗监测和改进的影像学，加强了GI受累的早期检测和特征描述。治疗仍然主要是支持性和对症的，包括抑酸、促动力治疗、营养优化以及并发症的内镜或手术治疗。关于肠道微生物组、免疫介导机制和肠-脑轴的证据不断增加，扩展了对疾病病理生理学的理解，并可能指导未来的靶向治疗。本综述综合了关于系统性硬化症胃肠道受累的流行病学、病理生理学、临床表现和管理的当前证据，强调早期识别和多学科护理。最后，我们概述了持续的管理挑战和未来方向，以提高诊断精度、治疗开发和以患者为中心的预后。

英文摘要

Gastrointestinal (GI) involvement is among the most common and clinically important manifestations of systemic sclerosis (SSc), affecting up to 90% of patients and substantially contributing to morbidity and reduced quality of life. SSc-related GI disease results from microvascular injury, enteric nervous system dysfunction, and progressive smooth muscle atrophy with fibrosis, producing widespread dysmotility throughout the gastrointestinal tract. Clinical involvement can extend from the oral cavity to the anorectum, with esophageal dysfunction, gastroesophageal reflux disease (GERD), gastroparesis, small intestinal bacterial overgrowth (SIBO), and intestinal pseudo-obstruction among the major manifestations. Recent diagnostic advances, including high-resolution esophageal manometry (HRM), ambulatory pH-impedance monitoring, and improved imaging, have strengthened early detection and characterization of GI involvement. Treatment remains largely supportive and symptom-directed, including acid suppression, prokinetic therapy, nutritional optimization, and endoscopic or surgical management of complications. Growing evidence on the gut microbiome, immune-mediated mechanisms, and the gut-brain axis is expanding understanding of disease pathophysiology and may guide future targeted therapies. This review synthesizes current evidence on the epidemiology, pathophysiology, clinical manifestations, and management of gastrointestinal involvement in systemic sclerosis, emphasizing early recognition and multidisciplinary care. We conclude by outlining persistent management challenges and future directions to improve diagnostic precision, therapeutic development, and patient-centered outcomes.