Mearin M Luisa, Ivarsson Annali, Dickey William
Pediatric Gastroenterology, Department of Pediatrics, Leiden University Medical Centre, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
Best Pract Res Clin Gastroenterol. 2005 Jun;19(3):441-52. doi: 10.1016/j.bpg.2005.02.004.
Screening studies indicate a prevalence of coeliac disease (CD) of up to 1% in populations of European ancestry, yet the majority of cases remain undiagnosed. Serological markers for CD now available have high sensitivity and specificity, offering the option of mass population screening. The principles of disease screening as set out by Wilson and Jugner can be applied to CD to predict whether this is appropriate. CD is an important health problem for the individual and the community because of high prevalence, associated specific and non-specific morbidity, and long-term complications of which the most important are gut malignancy and osteoporosis. However, recent studies indicate that the prevalence of malignancy and the health impact of osteoporosis are much less than previously supposed, so the prophylactic benefits of early diagnosis through screening may be low. While CD has an accepted and effective treatment, dietary gluten exclusion, this is difficult for the individual and asymptomatic cases may be poorly motivated to comply. Diagnosis of CD is by histological confirmation on duodenal biopsy. We now recognise milder degrees of gluten sensitive enteropathy without villous atrophy (Marsh I, II lesions) and the benefits to the individual by identifying these early lesions through screening is unknown: whether to treat such individuals needs to be agreed before programmes commence. Screening with serum antibodies is relatively non-invasive but may have to be repeated during each individual's lifetime. HLA typing beforehand to identify the 30% of the population with DQ2 or DQ8, who are at potential risk of CD, will allow one-off exclusion of a large percentage of the population but like all genetic testing has ethical implications. The economic costs of screening and treatment versus morbidity prevented have not been calculated.
筛查研究表明，在欧洲血统人群中，乳糜泻（CD）的患病率高达1%，但大多数病例仍未得到诊断。目前可用的CD血清学标志物具有高敏感性和特异性，为大规模人群筛查提供了选择。威尔逊和尤格纳提出的疾病筛查原则可应用于CD，以预测这种筛查是否合适。由于患病率高、相关的特异性和非特异性发病率以及长期并发症（其中最重要的是肠道恶性肿瘤和骨质疏松症），CD对个人和社区来说都是一个重要的健康问题。然而，最近的研究表明，恶性肿瘤的患病率以及骨质疏松症对健康的影响远低于先前的推测，因此通过筛查进行早期诊断的预防益处可能较低。虽然CD有一种公认且有效的治疗方法，即饮食中排除麸质，但这对个人来说很难做到，而且无症状病例可能缺乏遵守治疗的动力。CD的诊断需通过十二指肠活检的组织学确认。我们现在认识到存在无绒毛萎缩的轻度麸质敏感性肠病（马什I、II级病变），通过筛查识别这些早期病变对个人的益处尚不清楚：在项目开始前，是否治疗此类个体需要达成共识。血清抗体筛查相对无创，但可能需要在每个人的一生中重复进行。预先进行HLA分型以识别30%有DQ2或DQ8的人群（他们有患CD的潜在风险），将一次性排除很大比例的人群，但与所有基因检测一样，存在伦理问题。筛查和治疗的经济成本与预防的发病率之间的关系尚未计算。
