A Review of Autoimmune Enteropathy and Its Associated Syndromes
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MENTORED REVIEW
A Review of Autoimmune Enteropathy and Its Associated Syndromes Charles B. Chen1 · Farah Tahboub2 · Thomas Plesec3 · Marsha Kay1 · Kadakkal Radhakrishnan1 Received: 15 June 2020 / Accepted: 5 August 2020 © Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Autoimmune enteropathy is an extremely rare condition characterized by an abnormal intestinal immune response which typically manifests within the first 6 months of life as severe, intractable diarrhea that does not respond to dietary modification. Affected individuals frequently present with other signs of autoimmunity. The diagnosis is made based on a characteristic combination of clinical symptoms, laboratory studies, and histological features on small bowel biopsy. Autoimmune enteropathy is associated with a number of other conditions and syndromes, most notably immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome and autoimmune polyglandular syndrome type 1 (APS-1). Diagnosis and treatment is challenging, and further research is needed to better understand the pathogenesis, disease progression, and long-term outcomes of these conditions. Keywords Autoimmune enteropathy · Genetic syndromes · Immunodeficiency · Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome · Autoimmune polyglandular syndrome type 1
Introduction Autoimmune enteropathy is a constellation of diseases caused by an abnormal intestinal immune-mediated response that most commonly presents as severe, intractable diarrhea in early childhood [1]. The diagnostic criteria originally This work originated from the Department of Pediatric Gastroenterology, Hepatology, and Nutrition at Cleveland Clinic. * Charles B. Chen [email protected] Farah Tahboub [email protected] Thomas Plesec [email protected] Marsha Kay [email protected] Kadakkal Radhakrishnan [email protected] 1
Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland, OH 44195, USA
2
The University of Jordan School of Medicine, Queen Rania St 212, Amman, Jordan
3
Department of Anatomic Pathology, Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland, OH 44195, USA
proposed by Unsworth and Walker-Smith in 1985 include severe diarrhea unresponsive to dietary changes or elimination, evidence of autoimmunity, and absence of severe immunodeficiency [2]. Although traditionally thought to be a pediatric condition, an increasing number of cases have been reported in the adult population as well [3, 4]. Akram et al. proposed a new set of criteria for adults, which includes diarrhea of greater than 6 weeks duration, evidence of malabsorption, specific histological findings on small bowel biopsy, including partial or complete villous blunting, and exclusion of other causes of villous atrophy [3]. The differential diagnosis for autoimmune enteropathy includes very early onset inflammatory bowel disease, congenital diarrheal disorders, graft-vs-host disease, refractory celiac disease
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