262:
Gastrointestinal (GI) Manifestations in Common Variable Immunodeficiency (CVID)
Saturday, March 3, 2018: 2:00 PM
S310AB (Convention Center)
Sara Barmettler, MD, , , ,
RATIONALE: GI manifestations in primary immunodeficiencies, such as CVID, are common, but often under-reported and under-recognized. We sought to further understand and evaluate the prevalence, type, and treatments for CVID patients with GI manifestations.

METHODS: We performed a retrospective analysis of CVID patients with GI manifestations in the Partner’s HealthCare CVID cohort. We evaluated baseline patient characteristics, GI symptoms, GI infections, and non-infectious GI manifestations. Diagnostic modalities and treatment received by this cohort of patients were evaluated.

RESULTS: In the Partner’s CVID cohort, 147/207 patients (71%) had documented GI symptoms (most commonly diarrhea (n=114), abdominal pain (n=72), weight loss/malabsorption/protein wasting (n=33)). GI infections were reported in 123/207 (59%) patients, with the most commonly identified infections being H. pylori (n=20), C. difficile (n=13), and Giardia (n=8). Chronic inflammatory hepatitis was identified in 31/207 (15%), most commonly autoimmune hepatitis (n=21), followed by infectious hepatitis (n=6). Autoimmune/inflammatory GI disease was reported in 61/207 (29.5%) of patients, with 36/207 (17.4%) having autoimmune gastroenteropathy, and 23/207 (11%) with a diagnosis of IBD (UC:(n=6), Crohns:(n=3), lymphoid aggregates, granulomas or crypts on pathology:(n=14)). Celiac’s disease was diagnosed in 6/207 (2.9%). Diagnostic modalities included EGD/colonoscopy, liver biopsy, and abdominal imaging. In patients with autoimmune and inflammatory GI conditions, immunomodulators including prednisone/azathioprine/mycophenolate-mofetil/rituximab/infliximab/6-MP/methotrexate/abatacept were used, with mixed results. All patients (n=147) required immunoglobulin replacement.

CONCLUSIONS: GI manifestations occur in a majority of CVID patients, and include both infectious and non-infectious complications. These complications range in severity, but are often refractory to treatment, and may contribute substantially to morbidity and mortality.