Gastrointestinal Disease in Patients with Common Variable Immunodeficiency: A Retrospective Observational Study

Abstract

<jats:title>Abstract</jats:title> <jats:sec> <jats:title>Background</jats:title> <jats:p>Gastrointestinal (GI) symptoms are common among patients with common variable immunodeficiency disorder (CVID) yet remain poorly understood.</jats:p> </jats:sec> <jats:sec> <jats:title>Aims</jats:title> <jats:p>The aim of this study was to characterize the demographic, clinical, endoscopic and histologic features of patients with CVID and GI symptoms.</jats:p> </jats:sec> <jats:sec> <jats:title>Methods</jats:title> <jats:p>We conducted a retrospective observational study of all patients with CVID at a large Canadian tertiary care centre between January 2000 and May 2018.</jats:p> </jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats:p>We included 95 patients with CVID. The mean age of patients at the time of CVID diagnosis was 38.2(±16.0). Fifty-three (56%) patients were female. Sixty-four (67%) patients had GI symptoms, with a mean age of onset for GI symptoms of 43.4(±15.1) years. The most common symptoms were bowel movement changes (n = 55 [58%]) and abdominal pain (n = 44 [46%]). Patients with GI symptoms were more likely to have anemia (n = 23 [36%] versus n = 3 [10%], P = 0.0129), iron deficiency (n = 16 [25%] versus n = 2 [7%], P = 0.0481), and have received GI antibiotics (n = 37 [58%] versus n = 0, P &amp;lt; 0.0001) and proton pump inhibitors for reflux (n = 24 [38%] versus n = 3 [10%], P = 0.0067). The most common GI infections were Giardia lamblia (n = 14 [15%]) and Clostridium difficile (n = 4 [4%]). Forty-three (45%) patients with GI symptoms underwent colonoscopy, esophagogastroduodenoscopy or both. The most common findings were inflammation, nodular lymphoid hyperplasia, reduced plasma cells and increased intraepithelial lymphocytes.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>This is the largest study on CVID patients in a North American setting. The majority of patients experienced GI symptoms. Future studies should study response to treatment for GI disease among patients with CVID.</jats:p> </jats:sec>

The Importance of Endoscopy with Biopsy: Real-World Evidence of Gastrointestinal Involvement in Primary Immunodeficiency in Two Main Northern Italian Centres

“…As expected, Giardia lamblia was the most relevant intestinal pathogen in CVID despite the prevalence in our study being far lower than that in other studies [12]. In a European cohort of patients with CVID, the prevalence of gastrointestinal parasitic or bacterial infections was 26.5% [28], and in a large North American study, 24% of patients had GI infections, with the most commonly identified pathogen being, Giardia lamblia [29].…”

Update on Infections in Primary Antibody Deficiencies

“…Large cohorts and observational studies reported gastrointestinal manifestations in 47% to 67% of patients with CVID. Gastrointestinal infections were seen up to 24% of patients with gastrointestinal symptoms ( 38 , 39 , 98 ). In a study on 50 patients with CVID and gastrointestinal symptoms, 14, six, and five patients developed infections by G. lamblia , Clostridium jejuni , and Salmonella , respectively ( 98 ).…”

“…Studies on large cohorts also revealed that Norovirus and Cytomegalovirus (CMV) were among the most common viral causes of gastrointestinal infections in CVID ( 38 , 39 , 98 ). Others reported that Norovirus can be very severe, causing malabsorption and enteropathy requiring parenteral nutrition ( 42 , 99 ).…”

Paraneoplastic gastrointestinal dysmotility due to non-Hodgkin diffuse large B cell lymphoma: a case report

“…Patients with CVID are also prone to gastrointestinal infections including giardia due to immunodeficiency, with retrospective studies of patients with diarrhoea and CVID identifying giardia in 14–30% [8,9]. Diarrhoea in CVID is common and often presents a diagnostic challenge due to the concurrent propensity for noninfectious cause of diarrhoea, including microscopic colitis, coeliac disease, lymphocytic gastritis, granulomatous disease, pernicious anaemia, acute graft versus host disease, inflammatory bowel disease, CVID-enteropathy and small-bowel lymphoma [1].…”