Tufting Enteropathy

Tufting enteropathy is a rare genetic disease of the intestine that causes severe diarrhea and an inability to absorb nutrients. The condition usually starts soon after birth and is one of a group of disorders termed congenital diarrheas.

Tufting enteropathy occurs when the surface cells lining the intestine do not develop normally — causing an inability to absorb fluid and nutrients entering the intestine. Infants and children with this disease usually need specialized intravenous nutrition (parenteral nutrition) in order to grow normally and avoid dehydration.

Signs of tufting enteropathy usually present within hours or days after birth. However, sometimes the symptoms appear later (around two months after birth) and are less severe.

When babies have severe, watery diarrhea that doesn't go away, they cannot absorb the nutrients that they eat. This can lead to other severe complications, such as life-threatening dehydration, requiring them to be hospitalized. They also may have difficulty gaining weight.

Tufting enteropathy is inherited as an autosomal recessive genetic trait. This means that both parents must carry a copy of the affected gene in order to pass the disease on to their child. In some families, more than one child is affected. The gene so far identified is called EpCAM.

Testing for tufting enteropathy involves a number of steps. First doctors will test to determine the kind of diarrhea involved and which nutrients cannot be absorbed. If they suspect a congenital diarrhea they will need to look at a sample of the tissue in the small intestine. To do this they will need to perform a procedure called an endoscopy, which uses a small flexible viewing tube to look at the intestine and obtain tiny tissue samples (biopsies). Once they have a sample they will look at it under a light microscope as well as with a special microscope (electron microscope). Using microscopy, doctors can detect the main features of tufting enteropathy, which are tiny but distinct differences in the cells of the small intestine.

In addition to these tests, doctors will perform genetic testing to see whether there are any differences in the genes known to cause tufting enteropathy and other congenital diarrheas.

There are currently no drug treatments for tufting enteropathy. Treatment is supportive and involves long-term maintenance of nutrition and hydration with chronic parenteral nutrition.

The Boston Children’s Hospital Division of Gastroenterology, Hepatology and Nutrition specializes in diagnosing and treating children with complex intestinal disorders, like tufting enteropathy. Our congenital enteropathy team works closely with multiple specialties, including the Home Parenteral Nutrition Program, to provide expert, family centered care for infants, children, and adolescents.