University of Tennessee, College of Medicine Chattanooga, TN
Sravanthi Sonti, MD1, Laxmi Parsa, MD1, Jasna Beard, MD1, Lauren Kindle, PA-C2, Steven Kessler, MD1; 1University of Tennessee, College of Medicine, Chattanooga, TN; 2Erlanger Health System, Chattanooga, TN
Introduction: Common Variable Immunodeficiency (CVID),is a rare immunological disease with varied gastrointestinal system involvement. We are describing a unique case of CVID associated with rectal adenocarcinoma in a young female.
Methods: A 35-Yr-Old Caucasian female with stage IIIB rectal adenocarcinoma s/p robotic proctatectomy, colo-anal anastomosis, diverting ileostomy, about 10months ago admitted to hospital with episodic high grade fever, abdominal pain, loss of appetite and weight, nausea, and vomiting. She was currently on adjuvant chemotherapy because of positive margins, focal perineurial invasion, which was stopped secondary to intolerance. She was febrile, but normotensive on admission. Examination showed mild abdomen tenderness. Labs: WBC 3000, HgB 10, HCT 28.8, Platelets 300000. CMP was normal. A CT scan of abdomen and pelvis with contrast showed diffuse inflammatory changes involving jejunal loops in left lower quadrant.
Small bowel endoscopy showed innumerable polypoid nodules in duodenum and proximal jejunum along with large patches of friable, nodular, and ulcerated mucosa in the jejunum. Ileoscopy through the stoma showed normal mucosa. Pathology from abnormal areas in jejunum showed small intestinal type mucosa with prominent lymphoid aggregates and reactive changes. CD3 and CD20 staining showed mixed population of B and T lymphocytes. Staining with CD138 showed paucity of plasma cells even though dense population of inflammatory cells noted. IgG(< 30mg/dL), IgA(< 5mg/dL), and IgM(< 5mg/dL) levels were very low, repeated twice over a period of 8 wks. The biopsies were also negative for CMV and HSV.
An EGD few months ago showed innumerable polypoid nodules in duodenum. Colonoscopy showed a large fungating mass in rectum showing adenocarcinoma. Duodenal and colonic polyps showed lymphoid aggregates suggestive of focal nodular hyperplasia without dysplasia. Invitae colorectal cancer panel was negative.
She is currently undergoing a palliative chemotherapy as recent imaging showed new metastases to lungs, liver, and lymph nodes in abdomen. IVIG infusions were planned. Discussion: CVID has varied endoscopic, histological, and clinical gastrointestinal manifestations, and is associated with malignancy, autoimmune disease, and inflammatory bowel disease. Diagnosis of rectal adenocarcinoma initially and multiple polypoid nodules raised a suspicion of underlying hereditary polyposis syndrome. Diagnosis of CVID was made based on histology and measurement of immunoglobulin levels.
1. Ulcers and ulcerated nodules in jejunum
2. Duodenal polypoid nodules
3. CD138 staining: Paucity of plasma cells
Disclosures: Sravanthi Sonti indicated no relevant financial relationships. Laxmi Parsa indicated no relevant financial relationships. Jasna Beard indicated no relevant financial relationships. Lauren Kindle indicated no relevant financial relationships. Steven Kessler indicated no relevant financial relationships.