ACG 临床指南:乳糜泻的诊断和管理。

ACG clinical guidelines: diagnosis and management of celiac disease.

机构信息

Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, USA.

出版信息

Am J Gastroenterol. 2013 May;108(5):656-76; quiz 677. doi: 10.1038/ajg.2013.79. Epub 2013 Apr 23.

Abstract

This guideline presents recommendations for the diagnosis and management of patients with celiac disease. Celiac disease is an immune-based reaction to dietary gluten (storage protein for wheat, barley, and rye) that primarily affects the small intestine in those with a genetic predisposition and resolves with exclusion of gluten from the diet. There has been a substantial increase in the prevalence of celiac disease over the last 50 years and an increase in the rate of diagnosis in the last 10 years. Celiac disease can present with many symptoms, including typical gastrointestinal symptoms (e.g., diarrhea, steatorrhea, weight loss, bloating, flatulence, abdominal pain) and also non-gastrointestinal abnormalities (e.g., abnormal liver function tests, iron deficiency anemia, bone disease, skin disorders, and many other protean manifestations). Indeed, many individuals with celiac disease may have no symptoms at all. Celiac disease is usually detected by serologic testing of celiac-specific antibodies. The diagnosis is confirmed by duodenal mucosal biopsies. Both serology and biopsy should be performed on a gluten-containing diet. The treatment for celiac disease is primarily a gluten-free diet (GFD), which requires significant patient education, motivation, and follow-up. Non-responsive celiac disease occurs frequently, particularly in those diagnosed in adulthood. Persistent or recurring symptoms should lead to a review of the patient's original diagnosis to exclude alternative diagnoses, a review of the GFD to ensure there is no obvious gluten contamination, and serologic testing to confirm adherence with the GFD. In addition, evaluation for disorders associated with celiac disease that could cause persistent symptoms, such as microscopic colitis, pancreatic exocrine dysfunction, and complications of celiac disease, such as enteropathy-associated lymphoma or refractory celiac disease, should be entertained. Newer therapeutic modalities are being studied in clinical trials, but are not yet approved for use in practice. Given the incomplete response of many patients to a GFD-free diet as well as the difficulty of adherence to the GFD over the long term, development of new effective therapies for symptom control and reversal of inflammation and organ damage are needed. The prevalence of celiac disease is increasing worldwide and many patients with celiac disease remain undiagnosed, highlighting the need for improved strategies in the future for the optimal detection of patients.

摘要

本指南针对乳糜泻患者的诊断和管理提出了建议。乳糜泻是一种对膳食麸质(小麦、大麦和黑麦的储存蛋白)的免疫反应,主要影响具有遗传易感性的小肠,在饮食中排除麸质后即可缓解。在过去的 50 年中,乳糜泻的患病率有了实质性的增加,并且在过去的 10 年中诊断率也有所增加。乳糜泻可表现出许多症状,包括典型的胃肠道症状(例如腹泻、脂肪泻、体重减轻、腹胀、胃肠气胀、腹痛)和非胃肠道异常(例如异常肝功能试验、缺铁性贫血、骨病、皮肤疾病和许多其他多变的表现)。事实上,许多乳糜泻患者可能根本没有任何症状。乳糜泻通常通过检测乳糜泻特异性抗体进行血清学检测。通过十二指肠黏膜活检来确诊。血清学和活检都应在摄入含麸质的饮食下进行。乳糜泻的治疗主要是无麸质饮食(GFD),这需要对患者进行大量的教育、激励和随访。非应答性乳糜泻经常发生,尤其是在成年期被诊断出的患者中。持续性或复发性症状应重新审查患者的原始诊断以排除其他诊断,重新审查 GFD 以确保没有明显的麸质污染,并进行血清学检测以确认对 GFD 的遵守。此外,还应评估与乳糜泻相关的可导致持续性症状的疾病,例如显微镜结肠炎、胰腺外分泌功能障碍以及乳糜泻的并发症,例如肠病相关淋巴瘤或难治性乳糜泻等。新的治疗方法正在临床试验中进行研究,但尚未批准在实践中使用。鉴于许多患者对无麸质饮食的不完全反应以及长期遵守 GFD 的困难,需要开发新的有效治疗方法来控制症状、逆转炎症和器官损伤。乳糜泻的患病率在全球范围内呈上升趋势,许多乳糜泻患者仍未被诊断出来,这突显了未来需要改进策略以优化患者的检测。

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