Department of Medicine, Division of Gastroenterology and Hepatology, University of Virginia, 1215 Lee Street, PO Box 800708, Charlottesville, VA, 22908, USA.
Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, School of Medicine, University of Virginia, MR-4 Bldg, 409 Lane Rd., Charlottesville, VA, 22908, USA.
Dig Dis Sci. 2020 Aug;65(8):2187-2195. doi: 10.1007/s10620-020-06352-w.
Celiac disease (CD) is an immune-mediated enteropathy triggered by dietary ingestion of gluten in genetically susceptible patients. CD is often diagnosed by a "case-finding" approach of symptomatic patients. In recent times, the diagnostic paradigm has shifted to investigate patients who may be asymptomatic, but are at high risk of developing CD due to shared genetic susceptibilities. These high-risk groups include first-degree relatives of CD patients and patients with Type 1 diabetes mellitus, autoimmune thyroid disease, Down's syndrome, and Turner syndrome. Moreover, CD is often diagnosed as the cause of iron deficiency anemia or unexplained chronic diarrhea. Although screening for CD with serological tests is not recommended for the general population, it should be considered in these special populations. In this review, we explore screening for CD among high-risk groups in light of recent research and development in the CD arena.
乳糜泻（CD）是一种由遗传易感患者摄入麸质引起的免疫介导的肠病。CD 通常通过有症状患者的“病例发现”方法进行诊断。最近，诊断范式已经转变为调查可能无症状但由于共同遗传易感性而处于 CD 高风险的患者。这些高风险人群包括 CD 患者的一级亲属和 1 型糖尿病、自身免疫性甲状腺疾病、唐氏综合征和特纳综合征患者。此外，CD 常被诊断为缺铁性贫血或不明原因慢性腹泻的病因。虽然不建议对一般人群进行血清学检测筛查 CD，但在这些特殊人群中应考虑进行筛查。在这篇综述中，我们根据 CD 领域的最新研究和发展，探讨了高危人群中 CD 的筛查。
