A117 a case of adult autoimmune enteropathy and primary sclerosing cholangitis

Abstract Background Autoimmune enteropathy (AIE) is a rare, immune-mediated condition causing severe diarrhea and mucosal damage. The diagnostic criteria are chronic diarrhea with malabsorption, blunting of the small bowel villi, specific histologic changes, and the exclusion of other causes of villous atrophy. Anti-enterocyte and anti-goblet cell antibodies are supportive of the diagnosis, but not specific or sensitive enough to make the diagnosis. It has several clinical and histologic phenotypes and affects children more than adults. To our knowledge, there are only 2 published cases of AIE with concurrent primary sclerosing cholangitis (PSC). Aims To review the literature for adult AIE, any previous cases of concurrent PSC, and present a case of both conditions. Methods We searched PubMed for “autoimmune enteropathy psc”, “autoimmune enteropathy”, “autoimmune enteropathy case report”, “autoimmune enteropathy adult” and collected all the relevant articles. Relevant clinical features of demographics, IBD status, liver diseases, immune conditions, antibody status, and treatment agents were summarized. Results A 31-year-old man presented with a 20-year history of diarrhea and 11kg weight loss over 3 months. He had gout, no regular medications, and relevant no family history. All initial investigations were normal. Repeat endoscopy showed increased intra-epithelial lymphocytes (IEL) in the colon consistent with lymphocytic colitis. He was given budesonide with moderate improvement. He then developed biliary stasis, and was found to have early PSC. Repeat colonoscopy for ongoing diarrhea showed increased colonic IEL. Ulcerative colitis (UC) was suspected, and he was given oral 5-ASA and prednisone, with subsequent switch to vedolizumab. He then relapsed, requiring IV fluids, total parenteral nutrition (TPN), and IV steroids. Repeat endoscopy showed persistent colonic IEL, and villous blunting in the terminal ileum and duodenum. Celiac disease, IBD, combined variable immunodeficiency (CVID), and enteric infections were excluded. In this context, AIE was considered. He improved with IV steroids, and was switched to infliximab. Despite initial improvement, he had worsening diarrhea and malnutrition. After dose escalation of infliximab, and further IV steroids and TPN, he was started on a trial of ustekinumab. We found 35 articles that reported on 100 adult cases of AIE. There were two previous adult cases of concurrent PSC. We found 7 cases where TNF-alpha inhibitors were used, one case where vedolizumab was used, and no cases using ustekinumab. Details are in Table 1. Conclusions AIE is a rare condition causing chronic diarrhea and gut mucosal damage reported only in case reports and series. There have only been 2 other reported cases of concurrent PSC with AIE in adults. This is the first reported case of ustekinumab being tried to control symptoms. Funding Agencies None