Endoscopic and histopathological hints on infections in patients of common variable immunodeficiency disorder with gastrointestinal symptoms

Abstract

Background and aims: Common variable immunodeficiency disorder (CVID) patients may have gastrointestinal (GI) involvement and suffer from infections, which are poorly understood. This study aimed to evaluate the clinical, endoscopic, and histopathological features of CVID patients with GI symptoms and determine their correlation with infections.

Methods: We performed a retrospective study on 21 CVID patients with GI symptoms who underwent endoscopic examination in Peking Union Medical College Hospital from 2000 to 2020. The clinical, infectious, endoscopic, and histopathological features were reassessed.

Results: Chronic diarrhea was the most prevalent GI symptom, observed in 95.2% of our CVID cohort. Over 85% of patients had low body weight and malabsorption. Small bowel villous atrophy was found in 90.5% of patients under endoscopy and mostly confirmed by histopathology. GI infections were identified in 9 (42.9%) patients. Of these, 7 patients with diffuse and obvious nodular lymphoid hyperplasia (NLH) of small bowel under endoscopy had significantly higher infection rate (85.7% vs 21.4%, p < 0.05), predominantly with Giardia and bacteria. Small bowel biopsies showed 95% of patients lacked plasma cells and 60% had increased intraepithelial lymphocytes (IELs), but not significantly different between GI infection and non-infection group. Most patients improved after intravenous immunoglobulin and anti-infection therapy.

Conclusions: CVID could involve GI tract, particularly small bowel. Obvious NLH under endoscopy could be a hint for GI infection in CVID patients. Comprehensive endoscopic and histopathological evaluation may be helpful in CVID diagnosis and identification of potential co-infection, leading to proper treatment.

Keywords: Common variable immunodeficiency disorder; Endoscopy; Histopathology; Infection; Nodular lymphoid hyperplasia.

Fig. 1

The endoscopic and GI barium enterographic features of small bowel in CVID patients with GI symptoms. A, B mucosal edema and villous atrophy of duodenal bulb. C, D Mucosal edema and villous atrophy of descending duodenum. E, F, G NLH of duodenal bulb, descending part, and terminal ileum. A pseudo-polypoid pattern of mucosa was observed. H NLH of jejunum under capsule endoscopy. I Oral enterography showed diffuse nodular filling defects which were confirmed as NLH

Fig. 2

The probable correlation between diffuse and obvious NLH under endoscopy and infections. A The patients with diffuse and obvious NLH (shown as NLH++) under endoscopy had higher infection rate. B The patients with GI infections had higher rate of obvious and diffuse NLH (shown as NLH++)

Fig. 3

The histopathological features of small bowel in CVID patients with gastrointestinal symptoms. A Normal villi of small bowel in healthy people (H&E; original magnification, ×100). B Villous atrophy of small bowel in CVID patients (H&E; original magnification, × 100). C Increased IELs and plasma cell deficiency of small bowel in CVID patients (H&E; original magnification, ×400). D NLH localized at mucosa and submucosa of small bowel in CVID patients (H&E; original magnification, × 50)