Autoimmune enteropathy (AIE) is a rare disorder of the immune system that affects infants, young children , and rarely, adults causing severe diarrhea, vomiting, and other morbidities of the digestive tract.
Occur as a primary process or be due to another immune mediated process.
AIE causes malabsorption of food, vitamins, and minerals..
AIE often requires replacement fluids and total parenteral nutrition.
Some disorders, such as IPEX syndrome, include autoimmune enteropathy, as do
autoimmune processes of the skin, thyroid, other glands, or kidneys.
The main symptoms of AIE include:
Diarrhea
Intestinal inflammation
Vomiting
Intestinal bleeding
Difficulty or inability to gain weight
Rapid weight loss
Decreased urine output from dehydration
Extra manifestations can include hemolytic anemia, nephritis, and dermatitis, as well as thyroiditis and hepatitis.
Diagnosis
The diagnostic tests for AIE look for an antibody IgG or IgA against the enterocyte.
Endoscopy with biopsies of the colon, small colon, stomach, and other locations may be helpful in the diagnosis..
Diagnostic criteria include the detection of villous atrophy on biopsy of the small intestine along with a decrease in goblet cells in the tissue, the presence of antienterocytebantibodies, and chronic diarrhea with malabsorption.
There are 3 types of autoimmune enteropathy:
Type 1: IPEX syndrome: Immune dysregulation, Polyendocrinopathy, Enteropathy, X – linked syndrome, which is caused by a mutation in the FOXP3 gene, that can only affect boys.
Type 2: IPEX-like, which manifests similarly to IPEX syndrome but without recognizable mutations in the FOXP3 gene: affects both genders and includes a variety of manifestations of varying severity.
Type 3: Autoimmune manifestations primarily limited to the GI tract. This can affect both genders and may also be considered IPEX-like.
There is considerable overlap in these disorders.
Treatment:
Most typically treated with corticosteroids.
Some patients are refractory to corticosteroids, and in these patients immunosuppressive therapy with azathioprine, cyclophosphamide, tacrolimus, cyclosporine and infliximab is prescribed.
Total parenteral nutrition and/or a special diet may be necessary.
Hematopoietic stem cell transplantation may be curative.