P3396 - Clinical, Endoscopic and Histologic Features of Common Variable Immunodeficiency

Daniela Fluxa, MD¹, Maryam Alahmad, MBBS², Lauren Loeb, MD³, Jacqueline D. Squire, MD³, Christina Ha, MD⁴, Darrell S.. Pardi, MD, MS⁵, Yan Bi, MD, PhD¹, Jami Kinnucan, MD, FACG³, Michael F.. Picco, MD, PhD, FACG³, Jonathan Leighton, MD⁶, Francis A. Farraye, MD, MSc, MACG¹, Jana G.. Hashash, MD, MSc, FACG^1
1Mayo Clinic, Jacksonville, FL; ²Sheikh Shakbout Medical City, Abu Dhabi, Abu Dhabi, United Arab Emirates; ³Mayo Clinic Florida, Jacksonville, FL; ⁴Mayo Clinic Arizona, Scottsdale, AZ; ⁵Mayo Clinic, Rochester, MN; ⁶Mayo Clinic College of Medicine, Scottsdale, AZ

Introduction: Common variable immunodeficiency (CVID) is a rare illness with estimated prevalence of 1/25,000 individuals. Studies describing endoscopic (endo) and histopathological (histo) findings, and therapeutic options are lacking. Our goal was to describe gastrointestinal (GI) symptoms, endo and histo findings, as well as real-world experience with treatment of patients with CVID and GI involvement.

Methods: This was a retrospective review of patients ≥16 years of age diagnosed with 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. Demographics, GI symptoms, endo and histo findings, and treatments were abstracted. Descriptive statistics were used to analyze the results.

Results: A total of 57 patients were included; 53% female, median age at CVID diagnosis was 32 years (range 4-66). A total of 147 procedures were included (Table 1). The most common GI symptoms leading to endo evaluation were diarrhea (50%) and abdominal pain (29%); other indication included nausea (23%), weight loss (17%), vomiting (14%), 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. Only 45% of the procedures with normal endoscopic appearance had normal histology. Patients were diagnosed with CVID enteropathy (CVIDe) (12), microscopic colitis (8), autoimmune enteropathy (1), Crohn’s disease (1). Patients diagnosed with CVIDe were treated with budesonide (9), prednisone (1), mesalamine (1), vedolizumab (2), infliximab (2), ustekinumab (1), sirolimus (1), abatacept (1), cholestyramine (1) in addition to intravenous or subcutaneous immunoglobulin. One patient underwent bone marrow transplant for medically refractory disease.

Discussion: GI symptoms are frequent in patients with CVID. While endo and histo findings may be normal, decreased plasma cells and apoptosis are characteristic of CVIDe. In our series, 21% of the patients were diagnosed with CVIDe, similar to 15-20% as described by the literature. Most patients were treated with budesonide and 25% of patients eventually required biologics. Despite the lack of randomized controlled trials, patients with CVIDe may benefit from treatment with immunomodulators/biologics to reduce morbidity and mortality.


Disclosures:


Daniela Fluxa, MD¹, Maryam Alahmad, MBBS², Lauren Loeb, MD³, Jacqueline D. Squire, MD³, Christina Ha, MD⁴, Darrell S.. Pardi, MD, MS⁵, Yan Bi, MD, PhD¹, Jami Kinnucan, MD, FACG³, Michael F.. Picco, MD, PhD, FACG³, Jonathan Leighton, MD⁶, Francis A. Farraye, MD, MSc, MACG¹, Jana G.. Hashash, MD, MSc, FACG¹. P3396 - Clinical, Endoscopic and Histologic Features of Common Variable Immunodeficiency, ACG 2023 Annual Scientific Meeting Abstracts. Vancouver, BC, Canada: American College of Gastroenterology.