Tufting enteropathy

Overview

Type of disease: Rare conditions

Tufting Enteropathy is a rare genetic disease. It is also referred to as Intestinal Epithelial Dysplasia (IED). Symptoms occur in a few days after birth including vomiting, watery diarrhea, dehydration and failure to thrive. Villous atrophy causes the symptoms. Villous atrophy is the wasting away of the lining of the small intestine.

Tufting Enteropathy is an autosomal recessive genetic disease. This means the condition is inherited (passed through families) through genes. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers, their children have a one in four chance (25%) of having the disease.

Intestinal transplantations may stop the disease. Usually individuals with the disease require parenteral nutrition (PN). PN is a way of feeding an individual without them eating or digestion through an IV. If you have been diagnosed with Tufting Enteropathy speak with your doctor about the best personal plan of action.

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