A rare cause of intractable diarrhea

Abstract

☆ AG contributed to study concept and design, acquisition and interpretation of data, drafting of the manuscript. MB contributed to study concept and design, acquisition and interpretation of data, drafting of the manuscript. MP contributed to study concept and design, acquisition and interpretation of data, drafting of the manuscript.

Autoimmune Enteropathy: A Rare Cause of Chronic Diarrhea in an Adult Patient

“…10 Despite its rarity, AIE remains a diagnosis of exclusion and it should be included in the differential diagnosis of malabsorption syndromes associated with small intestinal mucosal atrophy. 3,7 We report the case of AIE in an adult patient presenting with chronic diarrhea and significant weight loss, whose esophagogastroduodenoscopy revealed duodenal villous atrophy extending to proximal jejunum as documented in capsule endoscopy, with negative antienterocyte antibodies, highlighting the need to exclude other causes of small bowel villous atrophy to confirm the diagnosis. AIE seems to result from dysregulation of gut humoral and cellular immune function with an underlying defect in the regulatory T-cell system.…”

“…8 A timely diagnosis is mandatory to start appropriate immunosuppressive treatment and nutritional support, which is the gold standard for patients with AIE. 3,7 Immunosuppression often includes steroids, with reported clinical improvement in up to 60% of patients after up to 8 weeks of therapy. 1,4 Other agents include antitumor necrosis factors such as infliximab, 6-mercaptopurine, azathioprine, cyclosporine, or tacrolimus.…”

“…7 AIE remains a challenging diagnosis because symptoms are nonspecific, including refractory diarrhea with malabsorption and anorexia leading to severe weight loss. 4,7 The diagnosis is based on the following criteria: chronic diarrhea (.6 weeks duration); malabsorption; specific small bowel histology; exclusion of other causes of villous atrophy; and the presence of anti-enterocyte and/or anti-goblet cell antibodies. 1 Small bowel histology include partial/complete villous blunting, deep crypt lymphocytosis, increased crypt apoptotic bodies, and minimal intraepithelial lymphocytosis.…”

“…8 The disease often presents in association with other autoimmune disorders in infants. 7 AIE remains a challenging diagnosis because symptoms are nonspecific, including refractory diarrhea with malabsorption and anorexia leading to severe weight loss. 4,7 The diagnosis is based on the following criteria: chronic diarrhea (.6 weeks duration); malabsorption; specific small bowel histology; exclusion of other causes of villous atrophy; and the presence of anti-enterocyte and/or anti-goblet cell antibodies.…”

“…Treatment of AIE is challenging and is based on immunosuppression, including corticosteroids, calcineurin inhibitors, and antitumor necrosis factor therapy, and nutritional support. 3,7 We report a case of AIE diagnosed in an adult patient presenting with chronic intractable diarrhea and significant weight loss, highlighting the diagnostic and therapeutic challenge in the management of this disorder.…”