乳糜泻 (CeD) 的患病率估计为 1%-3%。典型的临床表现是吸收不良，但现在患者可能会出现更微妙的症状，如便秘、骨质疏松或缺铁性贫血。儿童也可能出现生长不良。CeD 具有很强的遗传因素，高危人群包括患有 CeD 的一级亲属、合并自身免疫性疾病的患者以及染色体畸变患者。CeD 的诊断检查包括十二指肠组织学、血清学和基因检测。十二指肠组织学传统上是诊断的金标准。然而，血清学检测，尤其是 IgA 组织转谷氨酰胺酶抗体 (TTG-IgA) 被广泛使用，诊断算法主要以 TTG-IgA 作为起点。人类白细胞抗原分型也可用于确定 CeD 的遗传风险。儿童指南认可避免活检，可提供高水平的 TTG-IgA，其诊断准确性与十二指肠活检相当。可以通过鉴定单独的血液样本中的 IgA 肌内膜抗体来实现确认。 TTG-IgA 阳性水平低的受试者和 IgA 缺乏的受试者需要进行活检才能诊断 CeD。 CeD 的临床随访通常包括重复 TTG-IgA 检查。在成人中，愈合可能会延迟或不完全，难治性乳糜泻的罕见后果是转化为肠 T 细胞淋巴瘤。实验室检测，特别是 TTG-IgA，在诊断中发挥着核心作用，其准确性与组织学相当。利用实验室测试的诊断算法对于开发改进诊断的新策略至关重要。©诊断协会

Celiac disease (CeD) has an estimated prevalence of 1%-3%. The classical clinical presentation is malabsorption, but now patients may present with more subtle symptoms such as constipation, osteoporosis, or iron deficiency anemia. Children may also present with poor growth.CeD has a strong genetic component, and high-risk groups include first-degree relatives with CeD, patients with co-existing autoimmune diseases, and patients with chromosomal aberrations.Diagnostic tests for CeD include duodenal histology, serology, and genetic testing. Duodenal histology has traditionally been the gold standard of diagnosis. However, serological tests, especially IgA tissue transglutaminase antibodies (TTG-IgA), are widely used and diagnostic algorithms are based primarily on TTG-IgA as a starting point. Human leukocyte antigen typing may also be incorporated to determine genetic risk for CeD. Guidelines for children endorse biopsy avoidance provided high levels of TTG-IgA, with diagnostic accuracy being comparable to duodenal biopsy. Confirmation may be achieved by identifying IgA endomysial antibodies in a separate blood sample. Subjects with low positive TTG-IgA levels and subjects with IgA deficiency need a biopsy to establish a diagnosis of CeD. The clinical follow-up of CeD usually includes a repeat TTG-IgA examination. In adults, healing may be delayed or incomplete, and a rare consequence of refractory celiac disease is transformation to enteric T-cell lymphoma.Laboratory testing, in particular TTG-IgA, plays a central role in the diagnosis and has an accuracy comparable to histology. Diagnostic algorithms utilizing laboratory testing are critical for the development of novel strategies to improve diagnosis.© Association for Diagnostics & Laboratory Medicine 2024. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.