Autoimmune enteropathy: a review and update of clinical management

Abstract

Autoimmune enteropathy (AIE) is a rare condition characterized by intractable diarrhea, histologic changes on small intestinal biopsy, and failed response to dietary manipulation that also may present with extraintestinal manifestations. In many patients, immunosuppressive therapies are necessary. Although AIE is more common in infants, adult involvement has also been documented. Much of what is known about AIE has been gathered from case reports and small case series; therefore, more research in this evolving field is needed. IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) and APECED (autoimmune phenomena, polyendocrinopathy, candidiasis, and ectodermal dystrophy) are systemic forms of AIE.

Figure 1

Duodenal biopsy demonstrating the typical findings of autoimmune enteropathy

Figure 2. 10x magnification of the duodenum

Duodenal biopsies demonstrating cryptitis and the absence of Paneth cells, goblet cells, and villi in a patient with autoimmune enteropathy. There is no surface intraepithelial lymphocytosis as would be seen with celiac disease.