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Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy

  • Zunirah Ahmed
  • Aamer Imdad
  • James A. Connelly
  • Sari Acra
Review
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Abstract

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.

Keywords

Intractable diarrhea Autoimmune enteropathy IPEX APECED Immunosuppressives Stem cell transplant 

Abbreviations

AIE

Autoimmune enteropathy

APECED

Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy

IL

Interleukin

IFN

Interferon

IPEX

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

MHC

Major histocompatibility complex

MSC

Mesenchymal stem cell

TNF

Tumor necrosis factor

TPN

Total parenteral nutrition

Notes

Author’s contribution

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.

Supplementary material

10620_2018_5364_MOESM1_ESM.docx (45 kb)
Supplementary material 1 (DOCX 44 kb)
10620_2018_5364_MOESM2_ESM.docx (44 kb)
Supplementary material 2 (DOCX 43 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Zunirah Ahmed
    • 1
  • Aamer Imdad
    • 2
  • James A. Connelly
    • 3
  • Sari Acra
    • 4
  1. 1.School of MedicineUniversity of AlabamaMontgomeryUSA
  2. 2.Division of Pediatric GastroenterologySUNY Upstate Medical UniversitySyracuseUSA
  3. 3.Division of Pediatric Hematology-OncologyVanderbilt University Medical CenterNashvilleUSA
  4. 4.Division of Pediatric Gastroenterology, Hepatology and NutritionVanderbilt University Medical CenterNashvilleUSA

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