Background Autoimmune enteropathy (AIE) and common variable immunodeficiency (CVID) can both manifest as chronic diarrhea and small intestinal villous atrophy, making their differentiation challenging. Aims To explore the similarities and differences in the clinical manifestations, laboratory tests, pathological features, and long-term prognoses between these two diseases. Methods This retrospective study included 26 AIE patients and 29 CVID patients with gastrointestinal (GI) involvement who were admitted to our center from June 2012 to May 2024, with all their medical records reviewed. Differences between the two diseases were evaluated via statistical tests. Results Compared with CVID patients, AIE patients experienced a shorter duration of severe diarrhea, greater weight loss, and more severe hypoalbuminemia and electrolyte imbalances. Furthermore, CVID patients exhibited a notable history of recurrent respiratory infections; significantly lower serum levels of IgG, IgM, and IgA; a marked decrease in B-cell and CD4 + T-cell counts; and a significant inversion of the CD4 + /CD8 + ratio within peripheral blood lymphocyte subsets. Endoscopically, AIE patients are more likely to present with active inflammatory changes, such as erosions and hyperemia. On the basis of histopathological analysis of 23 AIE patients and 24 CVID patients, AIE patients presented with reduced goblet and Paneth cells, pronounced neutrophilic infiltration, and more frequent apoptotic bodies, while CVID patients demonstrated reduced plasma cells and deep crypt lymphocytosis. The diagnostic efficiency of the five pathological items in the duodenum (AUC 0.937), which includes goblet cell and Paneth cell reduction, was greater than that of the four-item combination (AUC 0.622). Long-term follow-up indicated that patients with both conditions were prone to diarrhea relapse, and CVID patients showed a slightly longer median relapse-free survival than did AIE patients. Conclusions Although AIE patients and CVID patients share many similarities, they exhibit significant differences. A thorough medical history, laboratory tests, and endoscopic and histopathological results provide compelling evidence for their differential diagnosis. <Table Float="No" ID="Taba"> <tgroup cols="2"> <colspec align="left" colname="c1" colnum="1" /> <colspec align="left" colname="c2" colnum="2" /> <tbody> <row> <entry align="left" nameend="c2" namest="c1"> Key Points • Both AIE and CVID with gastrointestinal involvement are immune-mediated diseases characterized by chronic diarrhea and small intestinal villi atrophy, making clinical diagnosis difficult. • AIE and CVID have different characteristics that can be used to distinguish them, especially pathological findings. </entry> </row> </tbody> </tgroup> </Table>

Relieving the discrimination dilemma of adult autoimmune enteropathy and common variable immunodeficiency disease: two rare causes of chronic diarrhea and small intestinal villous atrophy

期刊论文
发表日期：

2025年7月7日

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Muhan Li,
Qipu Wang,
Yang Chen,
Xiaoxing Feng,
Yanjun Lai,
Chengzhu Ou,
Xiaoqing Li,
Gechong Ruan,
Tianming Xu,
Hao Tang,
Yujie Zhang,
Yan You,
Ji Li,
Weixun Zhou,
Jingnan Li

摘要

Background

Autoimmune enteropathy (AIE) and common variable immunodeficiency (CVID) can both manifest as chronic diarrhea and small intestinal villous atrophy, making their differentiation challenging.

Aims

To explore the similarities and differences in the clinical manifestations, laboratory tests, pathological features, and long-term prognoses between these two diseases.

Methods

This retrospective study included 26 AIE patients and 29 CVID patients with gastrointestinal (GI) involvement who were admitted to our center from June 2012 to May 2024, with all their medical records reviewed. Differences between the two diseases were evaluated via statistical tests.

Results

Compared with CVID patients, AIE patients experienced a shorter duration of severe diarrhea, greater weight loss, and more severe hypoalbuminemia and electrolyte imbalances. Furthermore, CVID patients exhibited a notable history of recurrent respiratory infections; significantly lower serum levels of IgG, IgM, and IgA; a marked decrease in B-cell and CD4 + T-cell counts; and a significant inversion of the CD4 + /CD8 + ratio within peripheral blood lymphocyte subsets. Endoscopically, AIE patients are more likely to present with active inflammatory changes, such as erosions and hyperemia. On the basis of histopathological analysis of 23 AIE patients and 24 CVID patients, AIE patients presented with reduced goblet and Paneth cells, pronounced neutrophilic infiltration, and more frequent apoptotic bodies, while CVID patients demonstrated reduced plasma cells and deep crypt lymphocytosis. The diagnostic efficiency of the five pathological items in the duodenum (AUC 0.937), which includes goblet cell and Paneth cell reduction, was greater than that of the four-item combination (AUC 0.622). Long-term follow-up indicated that patients with both conditions were prone to diarrhea relapse, and CVID patients showed a slightly longer median relapse-free survival than did AIE patients.

Conclusions

Although AIE patients and CVID patients share many similarities, they exhibit significant differences. A thorough medical history, laboratory tests, and endoscopic and histopathological results provide compelling evidence for their differential diagnosis.

Key Points

• Both AIE and CVID with gastrointestinal involvement are immune-mediated diseases characterized by chronic diarrhea and small intestinal villi atrophy, making clinical diagnosis difficult.

• AIE and CVID have different characteristics that can be used to distinguish them, especially pathological findings.