IBM Watson Health, 75 Binney Street, Cambridge, MA, 02142, USA.
Takeda Development Centre Europe, 61 Aldwych, London, WC2B 4AE, UK.
Dig Dis Sci. 2019 Aug;64(8):2095-2106. doi: 10.1007/s10620-019-05528-3. Epub 2019 Mar 1.
Celiac disease (CD) is an immune-mediated gastrointestinal (GI) disorder driven by innate and adaptive immune responses to gluten. Presentation of CD has changed over time, with non-GI symptoms, such as anemia and osteoporosis, presenting more commonly. With improved screening and diagnostic methods, the reported prevalence of CD has increased globally, and there is considerable global variation in diagnostic and treatment practices. The objective of this study was to describe the current state of CD diagnosis and treatment patterns. A targeted review of literature from MEDLINE, Embase, the Cochrane Library, and screening of relevant conference abstracts was performed. The generally recommended diagnostic approach is GI endoscopy with small bowel biopsy; however, in selected patients, biopsy may be avoided and diagnosis based on positive serology and clinical symptoms. Diagnosis often is delayed; the average diagnostic delay after symptom onset is highly variable and can last up to 12 years. Barriers to accurate and timely diagnosis include atypical presentation, lack of physician awareness about current diagnostic criteria, misdiagnosis, and limited access to specialists. Currently, strict adherence to a gluten-free diet (GFD) is the only recommended treatment, which is not successful in all patients. Only one-third of patients are monitored regularly following diagnosis. Unmet needs for CD include improvements in the accuracy and timeliness of diagnosis, and the development of treatments for both refractory CD and GFD nonresponsive CD. Further research should investigate the impact of education about gluten-free eating and the availability of gluten-free foods support adherence and improve outcomes in patients with CD.
乳糜泻（CD）是一种由对麸质的先天和适应性免疫反应驱动的免疫介导的胃肠道（GI）疾病。CD 的表现随时间而变化，非 GI 症状（如贫血和骨质疏松症）更为常见。随着筛查和诊断方法的改进，全球报告的 CD 患病率有所增加，并且诊断和治疗实践存在相当大的全球差异。本研究的目的是描述 CD 诊断和治疗模式的现状。对 MEDLINE、Embase、Cochrane 图书馆的文献进行了有针对性的回顾，并对相关会议摘要进行了筛选。通常推荐的诊断方法是 GI 内窥镜检查和小肠活检；然而，在某些患者中，可以避免活检，并根据阳性血清学和临床症状进行诊断。诊断通常会延迟；从症状发作到确诊的平均诊断延迟时间差异很大，最长可达 12 年。准确和及时诊断的障碍包括不典型表现、医生对当前诊断标准缺乏认识、误诊以及获得专家的机会有限。目前，严格遵循无麸质饮食（GFD）是唯一推荐的治疗方法，但并非对所有患者都有效。只有三分之一的患者在确诊后得到定期监测。CD 未满足的需求包括提高诊断的准确性和及时性，以及开发治疗难治性 CD 和 GFD 无反应性 CD 的方法。应进一步研究关于无麸质饮食的教育和无麸质食品的可获得性对提高 CD 患者的依从性和改善结局的影响。
