Congenital Enteropathy Program

If your child has chronic, unrelenting diarrhea that doesn’t get better with the usual treatments, there may be an underlying disorder affecting the cells that line the intestine, or enteropathy. We often suspect a genetic cause in infants under 6 months of age with severe diarrhea who require parenteral (IV) nutrition or hydration.

Khori has congenital enteropathy linked to a mutation in her TTC7A gene. Remarkable research using Khori’s own cells showed that she was a perfect candidate to start taking leflunomide, a medication that shows promise for TTC7A deficiency. While her mom knows the future remains uncertain, she’s optimistic.

Khori has congenital enteropathy.

Our expertise in congenital diarrhea

The Congenital Enteropathy Program is one of the few centers in the world that specializes in congenital diarrhea. We care for children with severe diarrhea who may have had multiple previous tests that failed to identify a cause, and who may have been hospitalized because of severe dehydration and malnutrition.

Our gastroenterologists, dietitians, specialized nurses and other clinical providers involved in your child's care provide a supportive, family-centered approach. We aim to give every family a prompt, more precise diagnosis of the underlying cause of the child’s symptoms and improve long-term nutrition, growth and quality of life for every child.

How we evaluate and care for congenital enteropathies

We can provide comprehensive evaluations and second opinions, either in-person in our Boston location or through our Online Second Opinion Portal. Evaluations can include stool analysis, biopsy to observe features of intestinal tissue, studies of the immune system, and genetic studies to discover possible causative mutations. We recently published updated guidelines for evaluating congenital diarrhea and enteropathy.

Many patients need home parenteral nutrition (HPN) support in order to continue to thrive and grow. We partner very closely with the Home Parenteral Nutrition Program to provide additional resources for families should a child need HPN. If you or your child are eligible, the team will meet with you and provide in-depth training.