Siddiqui Uzma Nasim, Pervaiz Aima, Khan Zainab Bashir, Sultana Tabassum
General Medicine, Port Macquarie Base Hospital, Port Macquarie, AUS.
General Medicine, Shaikh Zayed Federal Postgraduate Medical Institute, Lahore, PAK.
Cureus. 2022 May 24;14(5):e25302. doi: 10.7759/cureus.25302. eCollection 2022 May.
Non-celiac gluten sensitivity (NCGS) is clinically identified as a condition where a percentage of the population reports intestinal and/or extraintestinal symptoms caused by gluten and/or wheat ingestion, and they are tested negative for celiac disease (CD) on the basis of specific serology and histopathology. NCGS should be labelled after the exclusion of CD and wheat allergy. This population reports improved symptoms on a gluten-free diet. Despite great interest and work on NCGS, much remains unknown about its pathogenesis. A positive and improved response to a gluten-free diet for a limited period of time (e.g., six to eight weeks), followed by retrieval of symptoms in case of gluten intake, is presently considered to be the best strategy for confirmation of diagnosis. A middle-aged lady came for medical attention with concerns of weight loss, lethargy and abdominal discomfort. On investigations, her serum transglutaminase IgA was found to be largely raised. The patient was switched to a gluten-free diet with suspicion of CD. Upper GI endoscopy was done one week after being on a gluten-free diet. Both endoscopy with histopathology was negative for villous atrophy and increased intraepithelial lymphocytes. Later human leukocyte antigen (HLA) testing was found to be negative for CD, leading to a diagnostic conundrum. On the basis of remarkable symptom improvement on a gluten-free diet, drop in transglutaminase levels, negative biopsy and HLA testing, the diagnosis was made as possible NCGS. Considering gluten-related disorders are rising and not much is known about NCGS, we aimed to present this case to create awareness and raise questions regarding diagnosis, need for specific monitoring and implications on the management.
非乳糜泻性麸质敏感（NCGS）在临床上被定义为一部分人群报告因摄入麸质和/或小麦而出现肠道和/或肠道外症状，并且基于特定血清学和组织病理学检查，他们的乳糜泻（CD）检测呈阴性的一种病症。NCGS应在排除CD和小麦过敏后进行诊断。这部分人群报告称无麸质饮食后症状有所改善。尽管对NCGS有很大的研究兴趣且开展了很多相关工作，但其发病机制仍有很多未知之处。目前，在一段有限时间（例如六到八周）内对无麸质饮食有阳性且改善的反应，随后摄入麸质时症状复发，被认为是确诊的最佳策略。一位中年女性因担心体重减轻、乏力和腹部不适前来就医。检查发现她的血清转谷氨酰胺酶IgA大幅升高。该患者因怀疑患有CD而改为无麸质饮食。在采用无麸质饮食一周后进行了上消化道内镜检查。内镜检查及组织病理学检查均未发现绒毛萎缩和上皮内淋巴细胞增多。后来发现人类白细胞抗原（HLA）检测对CD呈阴性，这导致了诊断难题。基于无麸质饮食后症状明显改善、转谷氨酰胺酶水平下降、活检和HLA检测均为阴性，诊断为可能的NCGS。考虑到与麸质相关的疾病正在增加，而对NCGS了解不多，我们旨在呈现此病例以提高认识，并引发关于诊断、特定监测需求及管理影响方面的问题。
