Intestinal Epithelial Dysplasia (IED) or Tufting Enteropathy

This is a rare genetic disease of the intestine that causes severe diarrhea and the inability to absorb nutrients. The condition usually develops shortly after birth and is a part of a group of disorders of congenital diarrheas.

Intestinal epithelial dysplasia occurs when the surface cells lining the intestine do not develop normally resulting in the inability to absorb fluid and nutrients entering the intestine. Signs and symptoms present within the first few weeks of life and diarrhea persists despite bowel rest. Newborns fail to thrive and develop severe protein-energy malnutrition.

Diagnosis is based on biopsy of the small intestine and looking at the sample under a microscope where it shows the characteristic tufting appearance.

Treatment is supportive and involves total parenteral nutrition (TPN) and intravenous (IV) hydration. For patients requiring long term TPN and full dependency, intestinal transplant may be indicated.

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