Tricho-hepato-enteric syndrome

Syndromic diarrhea


Type of disease: Rare conditions

Tricho-hepato-enteric syndrome is disease that causes extreme diarrhea shortly after birth. Babies who are affected usually have very watery diarrhea that happens many times per day. This can lead to poor weight gain and growing at slower rates. Due to the lack of nutrition, these infants usually have low levels of copper and iron. Children with tricho-hepato-enteric syndrome are usually shorter and smaller than their peers. Other symptoms include abnormal hair (typically brittle or patchy), liver disease, skin problems, and distinct facial features such as a wide forehead or widely spaced eyes. Intellectual disabilities can also occur. Immune system problems may occur as well, which results in a higher risk of getting sick from infections.

Tricho-hepato-enteric syndrome is caused by a change (mutation) in the baby’s genes. In order to diagnose this disease, doctors can either preform a genetic test, or preform an intestinal biopsy (taking a small piece of the intestine and running tests on it). The disease is more dangerous in childhood, but it can become manageable later in life. Treatment usually involves being fed multiple times a day with food delivered directly through the veins. Symptoms can last anywhere from a few months to ten years. Supplements for different vitamins and minerals are also usually taken to make sure children are getting enough nutrients. Liver disease can be a common side effect with this disease. A liver graft can be completed, if the liver disease becomes severe. If you or a family member has been diagnosed with tricho-hepato-enteric syndrome, talk to your doctor about the most current treatment options. Support groups are also good resources for information.

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