Autoimmune enteropathy: intestinal malabsorption and severe diarrhea in children

By Cristiano Antonino On Jan 26, 2023

Autoimmune enteropathy is a rare intestinal disorder characterized by intractable watery diarrhea. It results in weight loss and in children is often associated with immunodeficiency

Autoimmune enteropathy (EA) is an extremely rare disease

It is characterized by severe, protracted diarrhea associated with weight loss and intestinal malabsorption secondary to the damage the immune system does to the mucosa.

It usually occurs in the first few months of life, and varies greatly from patient to patient, affecting the male sex more.

It is the most frequent diagnosis (up to 29%) in children with intractable diarrhea.

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There are 5 subtypes: primary autoimmune enteropathy and syndromic enteropathy are those of pediatric interest

The causes of this disease are not totally clear.

It appears to be caused by dysregulation of intestinal immunity and, particularly in children, often occurs in association with immunodeficiency.

In these cases, circulating auto-antibodies against intestinal epithelial cells may be found, although their role has not yet been well established.

Symptoms are highly variable and can appear throughout childhood.

The most common symptoms are intractable watery diarrhea and malnutrition with stunting or major weight loss, which do not respond to dietary changes.

In many cases, bowel symptoms are associated with common variable immunodeficiency (CVID), or are part of more complex systemic syndromes, such as immunodisregulation-polyendocrinopathy-enteropathy X-linked syndrome (IPEX) and autoimmune polyendocrine syndrome type 1 (APECED).

In the latter conditions, in addition to bowel symptoms, other disorders such as recurrent infections, endocrine diseases, dermatitis, and other autoimmune diseases are present.

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Diagnosis is made on the combination of clinical signs, symptoms, blood tests and histological changes

The diagnostic criteria proposed in 2007 by a group of specialists from the Mayo Clinic (USA) for the adult population can also be applied to children.

These criteria include:

The presence of chronic diarrhea lasting longer than 6 weeks;
Symptoms of malabsorption;
Characteristic lesions of the mucosa of the small intestine observed under the microscope and exclusion of other causes of intestinal villous atrophy.

The presence of antibodies directed against certain cells of the intestine strengthens the diagnosis but is not considered an indispensable criterion.

There are currently no prevention strategies for this disease.

Treatment is complex and multidisciplinary and often requires total parenteral nutrition (NPT) and the use of systemic steroids.

Immunosuppressive drugs (Azathioprine, Methotrexate, Mycophenolate Mofetil, Cyclosporine, and Tacrolimus) are not always effective.

Recently, some biologic drugs (Infliximab, Rituximab and Abatacept) have been introduced with promising results.

Many children with IPEX undergo hematopoietic stem cell transplantation.

The prognosis usually depends on the severity of symptoms, the cause of the disease, and the response to treatment.

In most cases, the disease alternates between phases of improvement and worsening.

The mortality rate is high and may be an indication for intestinal transplantation.

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