CVID: A masquerader of Crohnʼs disease

Abstract

Introduction: Common variable immunodeficiency (CVID) is a primary antibodydeficiency which typically presents as recurrent sino-pulmonary infections. However, up to half of CVID patients have gastrointestinal complaints that can becharacterized by a host of gastrointestinal lesions which can mimic other conditions.Specifically, the gastrointestinal mucosa of CVID patients can histologicallymimic lymphocytic colitis, collagenous colitis, celiac disease, lymphocytic gastritis, granulomatous disease, and inflammatory bowel disease (IBD). The estimatedincidence of CVID associated IBD-like conditions ranges from 2-13%, and canrespond to traditional IBD therapies.CASE: A 40 year-old female with a history of CVID presented for evaluation ofrecurrent rectovaginal fistulas. The patient was diagnosed with CVID in 2001 followingan evaluation for recurrent pulmonary infections, with pulmonary andlymph node granulomas. She reported a history of a rectovaginal fistula in 2009and underwent surgical repair; however, she developed a recurrent rectovaginalfistula in 2010, and was referred to our clinic for further evaluation. The patientendorsed feculent material that drained from her vagina intermittently for severalmonths, but otherwise denied loose stools, blood in stools, or abdominal or rectalpains. She also denied signs of infection, extraintestinal manifestations of IBD, and significant family history. Physical exam under anesthesia confirmed the presenceof a rectovaginal fistula. Laboratory evaluation was remarkable for a leukocytosisof 20 thousand with a predominant eosinophilia, and a hemoglobin of 9.6g/dl, both of which were at baseline. Erythrocyte sedimentation rate was normalwhile C-reactive protein was mildly elevated at 0.658 mg/dl. Upper endoscopyshowed distal Candida esophagitis confirmed on biopsy and normal stomach andduodenum. Colonoscopy revealed a normal terminal ileum and evidence of mildcolitis with diffuse loss of vascular markings and edema in a patchy distributionthroughout the colon, including the rectum. Histology revealed areas of activecolitis with large contiguous areas of noncaseating granulomas and lack of basalcell plasmacytosis, separated by areas of normal colonic mucosa without inflammatorychanges and a paucity of plasma cells. Special staining was negative forinfectious organisms. Overall, these changes were inconsistent with classicCrohn's disease and thought to more likely be related to the patient's underlyingCVID, while infectious etiologies are being excluded.DISCUSSION: CVID is a rare disorder that can present with a variety of gastrointestinalpathology, one of which being IBD, with endoscopic and histologic featuresof inflammation and granulomas. A useful feature to help clarify the diagnosis isthe relative paucity of plasma cells in cases of CVID associated inflammatorychanges; however, CVID is often a clinicopathologic diagnosis. While the presenceof recurrent rectovaginal fistulas increased our suspicion for Crohn's disease, ourpatient's histology was most consistent with CVID associated colitis, which hasnot previously been reported to be associated with fistulas. The patient will beundergoing a diversion colostomy to heal the fistula, but biologic therapy maybe considered to treat this patient's lifestyle altering condition. Providers shouldconsider the diagnosis of CVID in a patient presenting with mucosal abnormalitiesconcerning for IBD and recurrent sino-pulmonary infections.