Introduction: Common variable immunodeficiency (CVID) is a rare disease. Few studies have described endoscopic (endo) and histopathological (histo) findings or outlined effective treatment strategies. We aimed to characterize CVID presenting gastrointestinal (GI) symptoms, endo and histo findings, and real-world experience with treatment of patients with CVID with GI involvement.
Methods: This was a retrospective review of patients ≥ 16 years of age with diagnosis of CVID who underwent endo evaluation for GI symptoms at a major three site academic medical center. Patients with secondary CVID were excluded. Patients were identified by searching our institution’s database using CVID, upper endoscopy and/or colonoscopy as key words. Procedures with indication of screening/surveillance were excluded. Demographics, clinical symptoms, endo and histo findings, and treatments were abstracted. Descriptive statistics were used to analyze the results.
Results: A total of 38 patients were included; 47% female, median age at CVID diagnosis was 31 years (range 4-66). A total of 100 procedures were included (Table 1). The most common GI symptoms leading to endo evaluation were diarrhea (45%) and abdominal pain (20%); other indication included nausea (17%), weight loss (14%), vomiting (10%), and rarely (< 10%): hematochezia/rectal bleeding, bloating, anorexia/early satiety, heartburn, dysphagia, iron and vitamin B12 deficiency. Endo and histo findings are described in Table 1. Patients were diagnosed with CVID enteropathy (CVIDe) (7), microscopic colitis (6), autoimmune enteropathy (1), CMV colitis (1), lichen planus (1), lymphocytic gastritis (2). Patients diagnosed with CVIDe were treated with budesonide (5), prednisone (1), mesalamine (1), vedolizumab (2), infliximab (2), ustekinumab (1), sirolimus (1) in addition to intravenous or subcutaneous immunoglobulin. One patient underwent bone marrow transplant for medically refractory disease.
Discussion: Patients with CVID often experience GI manifestations, with CVIDe occurring in up to 15-20% of patients in the literature and 18% in our series. While endo and histo findings may be normal, biopsies are important as a range of histo findings can be found and this may impact treatment decisions. Although specific treatment guidelines are lacking, CVID patients with GI manifestations may require treatment with immunomodulators/biologics to improve morbidity and mortality.
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