A242 SIGMOID PERFORATION: A RARE CASE OF REFRACTORY CELIAC DISEASE TYPE II

Abstract

Celiac disease is an autoimmune enteropathy caused by gluten ingestion in genetically susceptible individuals. Treatment consists of a gluten-free diet (GFD). Non-responders typically have an incidental source of gluten ingestion; however, 1% develops refractory celiac disease (RCD). RCD is defined as persistent or recurrent malabsorption, villous atrophy despite a strict GFD for 6–12 months. It is further classified as type I (RCD I) and type II (RCD II) by immunophenotyping. RCD I has a normal population of intraepithelial lymphocytes (IELs), while RCD II has aberrant IELs, which have T-cell clonality. RCD II is associated with EATL and is considered a pre-malignant condition, and more difficult to treat. - A 68-year old gentleman with a background including hypothyroidism, small bowel obstruction with lysis of adhesions, and family history of CD presented with acute-onset abdominal pain. CT abdomen showed free air and stranding in the proximal jejunum. Exploratory laparotomy found a spontaneous jejunal perforation and proximal stricturing. 20 cm of small bowel was resected. Histology review showed monoclonal T-cell receptor arrangement. He presented 2 months later with weight loss, diarrhea, and hypoalbuminemia. Gastroscopy showed scalloping of the duodenal mucosa and flattened villi; colonoscopy was normal. Biopsies showed villous atrophy with intraepithelial lymphocytosis, lymphocytic gastritis, and lymphocytic colitis. He was given supplemental nutrition and intravenous corticosteroids, but did not improve. Small bowel enteroscopy demonstrated a purulent-appearing anastomosis with fistulous opening; biopsies showed severe villous atrophy, and the anastomosis demonstrated mucosal ulceration with inflammatory exudate. Following repeat colonoscopy, he had a perforation and underwent exploratory laparotomy, lysis of adhesions, and small bowel and sigmoid resection. Biopsies confirmed ulcerative jejunoileitis consistent with RCD II. He continued to be non-responsive to corticosteroid therapy. Though there was no histologic evidence of malignancy, he continued to do poorly, and died. This patient’s serum sample was collected for antigen analysis, versus patients with classic celiac disease. - RCD II is a rare entity, emphasizing the importance of immunophenotyping in diagnosis; this has significant prognostic implications. Treatment data relies primarily on case reports; there is a paucity of randomized control trials. Therapy typically results in clinical and histological improvement, but does not prevent progression to EATL. This case highlights the difficulty of diagnosis of RCD II. It is one of the first cases to present with sigmoid perforation and to demonstrate both lymphocytic gastritis and lymphocytic colitis in RCD II. In addition, it is a pilot study of the serum analysis in RCD II patients. None