Velthof Lars, Geldof Jeroen, Truyens Marie, Van Dorpe Jo, Ferdinande Liesbeth, De Vriendt Ciel, Kerre Tessa, Haerynck Filomeen, Lobatón Triana, Hoorens Anne
Department of Pathology, Ghent University Hospital, Ghent University, 9000 Ghent, Belgium.
Department of Gastroenterology and Hepatology, Ghent University Hospital, Ghent University, 9000 Ghent, Belgium.
J Clin Med. 2025 Jan 14;14(2):497. doi: 10.3390/jcm14020497.
: Gastrointestinal diseases are a major cause of morbidity in common variable immunodeficiency disorder (CVID), clinically often mimicking other conditions including celiac disease and inflammatory bowel disease (IBD). Hence, diagnosis of CVID remains challenging. This study aims to raise awareness and highlight histopathological clues for CVID in intestinal biopsies, emphasizing diagnostic pitfalls for the pathologist/gastroenterologist. : We reviewed 63 (18 duodenal, 23 ileal, 22 colonic) biopsies and case histories from seven CVID patients, obtained over a 31-year period, with attention to active inflammation, intraepithelial lymphocytes, plasma cells, lymphoid hyperplasia, crypt/villous architecture, subepithelial collagen, apoptosis, granulomas, and infections. Clinical information of 41 pathology requests was reviewed. : Gastrointestinal symptoms were variable. Histological features included IBD-like (3/7), celiac disease-like (2/7), graft-versus-host disease (GVHD)-like (2/7), lymphocytic sprue/colitis-like (3/7), collagenous colitis-like (2/7), and acute colitis-like (4/7) patterns, often overlapping (2/7) and/or changing over time (3/7). Lymphoid hyperplasia was seen in 3/7 patients; 1/7 had giardiasis; and 5/7 had few plasma cells, usually only in part of the gut (3/5). Clinical information of 12/41 (29%) pathology requests mentioned known/suspected CVID, despite being known in 33/41 (80%). : Clinical/histological features of CVID in the gut are diverse, often mimicking IBD, microscopic colitis, celiac disease and/or GVHD, hence the importance of adequate clinical information. Some histological features are atypical of these established entities and may indicate CVID, as may overlapping/changing histological patterns and/or few plasma cells in part of the gut. Awareness of the heterogenous clinical presentation and histopathological indicators of CVID may improve diagnosis.
胃肠道疾病是普通可变免疫缺陷病（CVID）发病的主要原因，临床上常与其他疾病相似，包括乳糜泻和炎症性肠病（IBD）。因此，CVID的诊断仍然具有挑战性。本研究旨在提高对CVID的认识，并突出肠道活检中CVID的组织病理学线索，强调病理学家/胃肠病学家在诊断方面的陷阱。：我们回顾了7例CVID患者在31年期间获得的63份活检标本（18份十二指肠、23份回肠、22份结肠）及病例史，重点关注活动性炎症、上皮内淋巴细胞、浆细胞、淋巴组织增生、隐窝/绒毛结构、上皮下胶原、凋亡、肉芽肿和感染情况。对41份病理检查申请的临床信息进行了回顾。：胃肠道症状各不相同。组织学特征包括类似IBD（3/7）、类似乳糜泻（2/7）、类似移植物抗宿主病（GVHD）（2/7）、淋巴细胞性口炎/结肠炎样（3/7）、胶原性结肠炎样（2/7）和急性结肠炎样（4/7）模式，常相互重叠（2/7）和/或随时间变化（3/7）。3/7患者出现淋巴组织增生；1/7有贾第虫病；5/7浆细胞较少，通常仅在部分肠道出现（3/5）。41份病理检查申请中有12份（29%）的临床信息提及已知/疑似CVID，尽管33/41（80%）的患者已知患有CVID。：CVID在肠道的临床/组织学特征多样，常类似IBD、显微镜下结肠炎、乳糜泻和/或GVHD，因此充分的临床信息很重要。一些组织学特征并非这些已确诊疾病所特有，可能提示CVID，组织学模式的重叠/变化和/或部分肠道浆细胞较少也可能提示CVID。认识到CVID的异质性临床表现和组织病理学指标可能有助于提高诊断水平。
