- D1.346 - Clinically significant gastrointestinal endoscopic findings in asymptomatic patients with common variable immunodeficiency

Common variable immunodeficiency (CVID) represents a heterogeneous group of inborn errors of immunity (IEIs). Considerable morbidity and mortality is associated with non-infectious complications, which pose management challenges due to lack of defined clinical guidelines.To evaluate gastrointestinal endoscopic findings in patients with CVID and compare the prevalence of abnormalities among symptomatic and asymptomatic patients.

A retrospective study of 25 patients diagnosed with CVID was conducted to analyze non-infectious findings from upper digestive endoscopy and colonoscopy.  The study was performed between 2022 and 2025, and patients underwent upper digestive endoscopy and colonoscopy as part of an internal protocol which includes routine screening at the time of evaluation, regardless of symptoms; subsequent testing upon onset of gastrointestinal symptoms, and annual screening in patients with significant findings. Data were analyzed descriptively. 

At the time of evaluation, 92% and 52% of the patients were asymptomatic concerning gastric and intestinal complaints, respectively. Among the 12 asymptomatic patients who underwent screening, 7(58%) had abnormalities. Of the 23 asymptomatic patients in the upper gastrointestinal tract, 11(48%) showed intestinal metaplasia (n=6, 26%) and gastric adenocarcinoma (n=2, 9%). Of the 13 patients without symptoms of the lower gastrointestinal tract, 3(23%) had benign abnormalities including diffuse angiectasia and lymphoid hyperplasia and 3(23%) had a malignant finding (low-grade dysplasias with and without polyps) on colonoscopy. Among all patients, 13(59%) of the upper digestive endoscopies showed abnormalities, with 6(46%) presenting intestinal metaplasia, 2(15%) gastric adenocarcinoma (all in asymptomatic patients), and 1(7.7%) with atrophy; 41% of the exams had normal results. Regarding colonoscopies, 10(52%) of the patients presented significant findings, with 3(30%) having polyps with or without dysplasia, 3(30%) lymphoid hyperplasia, and 1(10%) low-grade dysplasia; 48% of the exams were normal.

A high frequency of relevant gastrointestinal abnormalities was observed in patients with CVID, including a proportion of asymptomatic patients. These findings highlight the limitations of symptom-based screening strategies and emphasize the need for systematic gastrointestinal surveillance in CVID patients to allow for early detection of complications.