Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy
Autoimmune enteropathy (AIE) is a complex disease affecting both children and adults. Although associated with significant morbidity and mortality, the pathophysiology of the disease and its treatment have not been well characterized. This study aims to review the medical literature available on this rare but clinically significant ailment, to help establish a better understanding of its pathophysiology and enumerate the available diagnostic and treatment modalities. A literature search was conducted on PubMed using key terms related to autoimmune enteropathy and intractable diarrhea, with no restrictions on the date of publication or language. We found a total of 98 reports of AIE published in the form of case reports and case series. The evidence reviewed suggests that AIE is a multifaceted disorder that requires a high index of suspicion in the appropriate clinical setting to be able to make an early diagnosis. Current evidence supports the use of supportive care to correct nutritional and metabolic deficiencies, and immunosuppressives and immunomodulators as directed therapies. Hematopoietic stem cell transplant is an aggressive, but successful curative modality for patients with AIE as part of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Cumulative clinical experience with management of AIE has allowed improved outcomes in transplanted and non-transplanted AIE patients even though morbidity and mortality with are still high in patients with this condition. More research is needed to further define the role of new therapies for AIE, and a central registry with participation of multiple institutions might help share and standardize care of patients with this rare but serious condition.
KeywordsIntractable diarrhea Autoimmune enteropathy IPEX APECED Immunosuppressives Stem cell transplant
Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
Major histocompatibility complex
Mesenchymal stem cell
Tumor necrosis factor
Total parenteral nutrition
Dr Zunirah Ahmed and Aamer Imdad did the literature search and wrote the first draft. Dr. James A. Connelly and Dr. Sari Acra supervised and gave feedback at each stage of manuscript writing.
Compliance with ethical standards
Conflict of interest
All authors declare that they do not have any conflict of interest.
- 19.Martini A, Scotta M, Notarangelo L, Maggiore G, Guarnaccia S, Giacomo Cd. Membranous glomerulopathy and chronic small-intestinal enteropathy associated with autoantibodies directed against renal tubular basement membrane and the cytoplasm of intestinal epithelial cells. Acta Paediatr. 1983;72:931–934.CrossRefGoogle Scholar
- 42.Virological S. Anti-goblet cell antibodies for the diagnosis of autoimmune enteropathy? Lancet. 1997;350:959–960.Google Scholar