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What is Autoimmune Enteropathy?
Written by Medicover Team and Medically Reviewed by Dr Raosaheb Rathod , Gastroenterologists Medical
Autoimmune enteropathy is a rare condition where the immune system attacks the lining of the intestines, causing severe, long-lasting diarrhea and trouble absorbing nutrients. It mainly affects children, but can also occur in adults and older people. The condition leads to inflammation and damage in the small intestine, making it hard for the body to digest food or absorb what it needs.
What Are the Symptoms of Autoimmune Enteropathy?
People with autoimmune enteropathy have persistent, watery diarrhea that does not go away, even with a change in diet. This is usually the first and most obvious symptom.
Other symptoms may include:
- Unexplained weight loss
- Poor growth in children
- Bloating or belly pain
- Fatigue and weakness
- Dehydration
- Swelling (from low protein levels)
- Nutrient deficiencies (like iron or vitamin D)
Over time, this ongoing inflammation can make the intestines thinner and less able to absorb food.
What Causes Autoimmune Enteropathy?
Autoimmune enteropathy happens when the immune system mistakenly attacks healthy cells in the gut, especially the small intestine. This causes damage to the cells that help absorb nutrients.
Possible causes include:
- Genetic factors: Like mutations in the FOXP3 gene, especially in infants with IPEX syndrome
- Other autoimmune diseases: Such as type 1 diabetes, autoimmune thyroid disease, or lupus
- Immune system overactivity: Sometimes triggered after infections
- Unknown reasons: In many adult cases, the exact cause is not clear
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Get Second OpinionWho is at Risk of Autoimmune Enteropathy?
Autoimmune enteropathy is rare, but certain people are more likely to get it due to genetics or other immune problems. Knowing the risk factors can help catch it early.
Autoimmune enteropathy is rare, but some people have a higher risk:
- Infants and young children: Especially boys with IPEX syndrome and People with multiple autoimmune conditions
- Those with a family history of rare immune diseases
Organ transplant recipients or patients on immunotherapy (very rarely)
How is Autoimmune Enteropathy Diagnosed?
This condition can look like other stomach or bowel problems, so doctors use different tests to confirm the diagnosis. A mix of lab work, imaging, and biopsy is often needed.
There's no single test for autoimmune enteropathy, so doctors use a mix of tests to rule out other causes.
Diagnosis may include:
- Medical history and symptom review
- Blood tests to check for immune markers and nutrient levels
- Stool tests to rule out infection or parasites
- Endoscopy with biopsy is a camera test of the intestine, where tissue samples are taken
- Antibody tests, such as anti-enterocyte or anti-goblet cell antibodies
- Genetic testing, especially for children suspected of having IPEX
How is Autoimmune Enteropathy Treated?
Treatment focuses on calming the immune system and helping the gut heal. Early care is key to avoid malnutrition and long-term damage.
Common treatments include:
- Steroids (like prednisone): To reduce inflammation quickly
- Immunosuppressants (e.g., azathioprine, tacrolimus): To control the overactive immune response
- Biologics: In more severe or resistant cases
- Nutritional support: Like IV fluids, feeding tubes, or special formulas
- Treatment of other autoimmune problems: If present
Children may need help from a team of doctors, including immunologists, gastroenterologists, and dietitians.
When Should You See a Doctor?
Not all diarrhea is serious, but ongoing symptoms that don't get better need attention. Early medical help can prevent complications and support faster healing.
Talk to a doctor if you or your child has:
- Ongoing diarrhea for more than 2 weeks
- Trouble gaining weight or signs of malnutrition
- Weakness, swelling, or dehydration
- Family history of autoimmune disease
- Symptoms that don't improve with diet changes
- Living with Autoimmune Enteropathy
Living with this condition can be challenging, especially at first. But with the right care, most people can return to normal life.
Helpful tips include:
- Sticking to medications
- Keeping follow-up appointments
- Tracking weight and symptoms
- Getting nutrition support when needed
- Having a strong care team
For many families, support from nutritionists and pediatric specialists makes a big difference.
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Can You Recover from Autoimmune Enteropathy?
Recovery depends on how early treatment begins and how well the body responds to therapy. Many people improve with medication and long-term management.
With proper treatment:
- Diarrhea often slows down or stops
- Weight gain and growth resume
- Inflammation goes down
- Absorption improves
- Quality of life returns to normal
Some people may need long-term immunosuppressive therapy, while others may outgrow the condition or go into remission.
What Are the Possible Complications?
Without treatment, autoimmune enteropathy can lead to serious issues, especially in infants and young children.
Complications may include:
- Severe malnutrition
- Delayed growth and development
- Organ damage (due to low nutrients)
- Frequent infections (from low immunity)
- Electrolyte imbalance or dehydration
- Bone weakness (from vitamin D loss)
Regular monitoring helps prevent or manage these problems.
Expert Digestive and Immune Care at Medicover
At Medicover, we offer complete care for rare digestive and immune conditions like autoimmune enteropathy. Our team works closely with patients and families to create customized treatment plans that support growth, comfort, and healing.
From advanced diagnosis to nutrition and immune therapy, we're here to help you every step of the way.
