Overview
Autoimmune enteropathy is a rare condition characterized by severe, intractable diarrhea and abnormal intestinal immune responses, often manifesting within the first six months of life. It can be associated with other autoimmune syndromes such as APECED and IPEX syndrome 2.Diagnosis
Clinical Presentation: Severe, intractable diarrhea unresponsive to dietary modifications 2.
Laboratory Studies: Evaluation of endocrine function and autoantibody profiles, particularly in suspected APECED 1.
Histological Features: Characteristic changes on small bowel biopsy, including destruction of gut endocrine cells 12.
Genetic Testing: Sequencing of autoimmune regulator-encoding gene for APECED diagnosis 1.Management
First-Line Treatments: Immunosuppressive therapy (e.g., corticosteroids, calcineurin inhibitors) to modulate immune response 2.
Adjunctive Therapies: Nutritional support and electrolyte management to address hypocalcemia and malnutrition 1.
Anti-Enterocyte Antibodies: Consideration of anti-enterocyte antibody assays, though specificity remains uncertain 4.Special Populations
Pediatrics: Early recognition and management are crucial due to delayed diagnosis in conditions like APECED 1.
Adults: Similar endoscopic and histological changes to celiac disease but unresponsive to gluten-free diets 4.Key Recommendations
Genetic Testing for APECED in patients with suspected autoimmune enteropathy and additional autoimmune manifestations (Evidence: Moderate 1).
Initiate Immunosuppressive Therapy early in the course of the disease to manage severe symptoms and prevent complications (Evidence: Moderate 2).
Monitor and Manage Electrolyte Imbalances, particularly hypocalcemia, given its frequent occurrence 1.
Consider Anti-Enterocyte Antibodies as part of diagnostic workup, acknowledging their non-specific nature 4 (Evidence: Weak).References
1 Halabi I, Barohom MN, Peleg S, Trougouboff P, Elias-Assad G, Agbaria R et al.. Case Report: Severe Hypocalcemic Episodes Due to Autoimmune Enteropathy. Frontiers in endocrinology 2021. link
2 Chen CB, Tahboub F, Plesec T, Kay M, Radhakrishnan K. A Review of Autoimmune Enteropathy and Its Associated Syndromes. Digestive diseases and sciences 2020. link
3 Wallace JL. Mechanisms, prevention and clinical implications of nonsteroidal anti-inflammatory drug-enteropathy. World journal of gastroenterology 2013. link
4 Freeman HJ. Adult autoimmune enteropathy. World journal of gastroenterology 2008. link
5 Evans SM, Whittle BJ. Role of bacteria and inducible nitric oxide synthase activity in the systemic inflammatory microvascular response provoked by indomethacin in the rat. European journal of pharmacology 2003. link02959-x)