P5991 - Severe Variceal Bleeding in Common Variable Immunodeficiency-Associated Nodular Regenerative Hyperplasia

Vijayvardhan Kamalumpundi, MD¹, Darine Daher, MD², Sarah Khan, MD², Navreet Chowla, MD, FACG², Zongming E. Chen, MD, PhD²
1Mayo Clinic, Cedar Rapids, IA; 2Mayo Clinic, Rochester, MN

Introduction: Common variable immunodeficiency (CVID) is a heterogeneous group of primary immunodeficiency disorders characterized by impaired B-cell differentiation and hypogammaglobulinemia. Hepatic complications occur in at least 10% of CVID patients, with nodular regenerative hyperplasia (NRH) as the most common histologic subtype. NRH can lead to non-cirrhotic portal hypertension (NCPH), which in rare cases may cause life-threatening gastrointestinal bleeding. We report a case of a young patient with CVID and NRH, presenting with acute-on-chronic, refractory stomal variceal bleeding.

Case Description/

Methods: A 24-year-old male with CVID on monthly intravenous immunoglobulin, confirmed STAT1 gain of function mutation, CVID enteropathy, inflammatory rectal pseudopolyposis status post abdominopelvic resection with permanent colostomy one year prior, and NCPH secondary to NRH presented with acute on chronic parastomal bleeding. He underwent Sotradecol sclerotherapy and coil embolization of the stomal varices, but continued to experience oozing into his stomal bag, requiring multiple red blood transfusions. Upper endoscopy and triple-phase CT enterography demonstrated very small esophageal varices and enlarged parastomal varices, without definite vascular malformation or enhancing mass within the small bowel. The patient underwent transhepatic coil embolization of stomal varices, resulting in successful resolution of the bleeding. Transjugular liver biopsy with pressure measurements revealed a gradient of 12-13 mmHg, indicating portal hypertension and biopsy demonstrated patchy sinusoidal fibrosis. Initial therapies failed to control bleeding, and the patient re-presented for stomal bleeding. Given treatment-refractory stomal varices, transjugular portosystemic shunt (TIPS) was placed, reducing the portosystemic gradient from 10 mmHg to 4 mmHg and achieved bleeding resolution. Follow-up was arranged to evaluate the use of ruxolitinib and/or bone marrow transplantation for further CVID management.

Discussion: This case illustrates the first reported instance of severe, recurrent stomal variceal bleeding in a young patient due to CVID-associated NRH successfully managed with TIPS. Given the complexity of CVID with multisystem involvement, genetic profiling and immunologic therapies may offer future therapeutic potential.

Disclosures:
Vijayvardhan Kamalumpundi indicated no relevant financial relationships.
Darine Daher indicated no relevant financial relationships.
Sarah Khan indicated no relevant financial relationships.
Navreet Chowla indicated no relevant financial relationships.
Zongming Chen indicated no relevant financial relationships.

Vijayvardhan Kamalumpundi, MD¹, Darine Daher, MD², Sarah Khan, MD², Navreet Chowla, MD, FACG², Zongming E. Chen, MD, PhD². P5991 - Severe Variceal Bleeding in Common Variable Immunodeficiency-Associated Nodular Regenerative Hyperplasia, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.