Adult-Onset Autoimmune Enteropathy in the Setting of Thymoma Successfully Treated with Infliximab

Abstract

Autoimmune enteropathy (AIE) is characterized by chronic intractable diarrhea, weight loss from malabsorption, and immune-mediated damage to the intestinal mucosa. The syndrome initially was described in 1982 in a male child (1, 2). Walker-Smith formulated a set of diagnostic criteria for the disorder that remain in use: (a) small intestinal villous atrophy, (b) unresponsiveness to dietary restriction, and (c) circulating enterocyte antibodies and/or associated autoimmune conditions (3). AIE also occurs in the setting of immunoglobulin deficiencies, a known risk factor for the development of autoimmune disorders (4, 5). The first published cases of adult-onset AIE appeared in 1997 when Corazza et al. described two subjects aged 38 and 47 years with severe diarrhea and malabsorption, small bowel villous atrophy, no response to gluten-free diet, and circulating antienterocyte antibodies (6, 7). Only occasional case reports of adults with this disorder have appeared since, and similarly to pediatric cases, adultonset AIE has been associated with autoimmunity and immunoglobulin deficiency. AIE likely is but one manifestation of a more diffuse autoimmune disorder of the gastrointestinal system with heterogeneous manifestations including gastritis, colitis, hepatitis, and pancreatitis, as well as a variety of autoantibodies, such as anti–parietal cell antibodies and anti–goblet cell antibodies (4, 8, 9). Leon et al. recently coined the term generalized autoimmune gut disorder (GAGD) for those whose autoimmune gastrointestinal damage extends beyond the small intestine,