Ahmed M, Tolufase T, Gill P, Sayed M I
Department of Paediatrics, Queen's Hospital, Belvedere Road, Burton Upon Trent, Staffordshire, DE13 0RB, UK.
Eur J Pediatr. 2025 Apr 2;184(5):277. doi: 10.1007/s00431-025-06113-9.
Coeliac disease is an autoimmune condition with variable presentation which leads to difficulties and delays in diagnosis. A retrospective study was undertaken to investigate the effectiveness of duodenal bulb biopsies in histologic diagnosis of coeliac disease. Histology specimens were analysed from 230 patients, age ranging from 0 to 16 years over a 10-year period (2014-2024) who had raised tissue transglutaminase/endomysial antibodies and were referred for an upper gastrointestinal endoscopy to confirm/rule out coeliac disease. Biopsies taken from the proximal (D1) and distal duodenum (D2, 3, 4) were compared in 145 children who were confirmed to have the diagnosis of coeliac disease on histopathology. The results revealed that a significant number of children (56/145; 38.6%) had positive histological changes seen in proximal duodenum only with completely normal histology in distal duodenum. In comparison, only 4/145 (2.8%) children yielded positive histology result from distal duodenum with normal proximal duodenal biopsies. Proximal duodenal segment histology samples therefore had the highest sensitivity (97%), negative predictive value (95.5%), and accuracy (98%).
Our fundings re-enforce the importance of obtaining an adequate number of proximal duodenal samples for histological analysis in children investigated for coeliac disease in order to avoid delayed or missed diagnosis in this age group.
• Coeliac disease affects 1-2% of western population though prevalence varies by the region. • A sub-set of suspected cases with anti-tissue transglutaminase (TTG) antibody titres of less than ten times the upper limit of normal require duodenal biopsies for confirmation of diagnosis.
• Duodenal bulb biopsies have higher sensitivity and negative predictive value when compared to distal duodenal biopsies. • Endoscopist must obtain adequate number of samples from proximal duodenum (duodenal bulb) to avoid false negative results.
乳糜泻是一种临床表现多样的自身免疫性疾病，这导致诊断困难和延迟。进行了一项回顾性研究，以调查十二指肠球部活检在乳糜泻组织学诊断中的有效性。分析了230例患者的组织学标本，这些患者年龄在0至16岁之间，在10年期间（2014 - 2024年）组织转谷氨酰胺酶/肌内膜抗体升高，并被转诊进行上消化道内镜检查以确诊/排除乳糜泻。在145名经组织病理学确诊为乳糜泻的儿童中，比较了取自十二指肠近端（D1）和远端（D2、3、4）的活检标本。结果显示，相当数量的儿童（56/145；38.6%）仅在十二指肠近端出现阳性组织学改变，而十二指肠远端组织学完全正常。相比之下，只有4/145（2.8%）的儿童十二指肠远端活检组织学结果为阳性，而十二指肠近端活检正常。因此，十二指肠近端节段组织学样本具有最高的敏感性（97%）、阴性预测值（95.5%）和准确性（98%）。
我们的研究结果再次强调了在对疑似乳糜泻的儿童进行组织学分析时，获取足够数量的十二指肠近端样本的重要性，以避免该年龄组的诊断延迟或漏诊。
• 乳糜泻影响西方人口的1 - 2%，尽管患病率因地区而异。• 一部分抗组织转谷氨酰胺酶（TTG）抗体滴度低于正常上限十倍的疑似病例需要进行十二指肠活检以确诊。
• 与十二指肠远端活检相比，十二指肠球部活检具有更高的敏感性和阴性预测值。• 内镜医师必须从十二指肠近端（十二指肠球部）获取足够数量的样本，以避免假阴性结果。
