Background 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. Content 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. Summary 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.

中文翻译：

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乳糜泻的实验室检测：临床和方法学考虑


背景乳糜泻 （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细微的症状，如便秘、骨质疏松症或缺铁性贫血。儿童也可能表现为生长不良。CeD 具有很强的遗传成分，高危人群包括 CeD 的一级亲属、共存自身免疫性疾病的患者以及染色体畸变患者。内容 CeD 的诊断测试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 组织谷氨酰胺转移酶抗体 （TTG-IgA），被广泛使用，诊断流程主要以 TTG-IgA 为起点。人类白细胞抗原分型也可以用于确定 CeD 的遗传风险。儿童指南支持避免活检，提供高水平的 TTG-IgA，诊断准确性与十二指肠活检相当。可通过在单独的血液样本中鉴定 IgA 肌内膜抗体来进行确认。TTG-IgA 水平低阳性的受试者和 IgA 缺乏的受试者需要活检以确定 CeD 的诊断。CeD 的临床随访通常包括重复 TTG-IgA 检查。在成人中，愈合可能延迟或不完全，难治性乳糜泻的一个罕见后果是转化为肠道 T 细胞淋巴瘤。总结 实验室检测，特别是 TTG-IgA，在诊断中起着核心作用，其准确性可与组织学相媲美。利用实验室检测的诊断算法对于开发改善诊断的新策略至关重要。