From the Guidelines
Tufting enteropathy is a congenital mucosal disorder characterized by villous atrophy and tufting of the intestinal epithelium, often requiring intestinal transplantation due to high risk of death attributable to the underlying disease 1.
Key Characteristics
- Chronic intestinal disorder: Tufting enteropathy is a rare condition that affects the intestinal mucosa, leading to malabsorption and chronic intestinal failure 1.
- Indication for intestinal transplantation: Patients with tufting enteropathy are considered for intestinal transplantation due to the high risk of death associated with the underlying disease 1.
Management
- Intestinal transplantation: Intestinal transplantation is a life-saving option for patients with tufting enteropathy, especially those with high morbidity or low acceptance of home parenteral nutrition (HPN) 1.
- Home parenteral nutrition (HPN): HPN may be required to support nutritional needs in patients with tufting enteropathy, although it is not a definitive treatment for the underlying condition 1. Some key points to consider in the management of tufting enteropathy include the need for careful assessment of candidacy for intestinal transplantation and the importance of a multidisciplinary approach to patient care 1.
From the Research
Definition and Characteristics of Tufting Enteropathy
- Tufting enteropathy (TE) is a rare congenital enteropathy characterized by refractory diarrhea in the neonatal period 2.
- It is also known as intestinal epithelial dysplasia and presents with clinical and histological heterogeneity 2, 3.
- TE may be associated with birth defects and punctuate keratitis, and the causative gene(s) have not yet been identified, making prenatal diagnosis unavailable 2.
- The disease is typically autosomal recessive and features persistent and life-threatening intractable diarrhea early in life 3.
Histological Presentation
- The histological presentation of TE includes villous atrophy, epithelial dysplasia, and disorganization of the surface epithelium, resembling tufts in jejunal and ileal tissue 2, 4.
- Duodenal biopsies show characteristic tufts and a complete lack of EPCAM staining in some cases 4.
- The histological lesions can be assessed semiquantitatively and compared with clinical outcomes, including dependence on parenteral nutrition (PN) 5.
Management and Outcome
- Most TE patients require total parenteral nutrition (TPN) and, in severe cases, small bowel transplantation 3.
- Progressive weaning off PN is possible in some children with TE, and a favorable outcome can be obtained even with abrogated intestinal EPCAM expression 4, 5.
- Catheter-associated blood stream infections are a primary problem for pediatric patients with TE, and infections with rare bacteria like Kocuria kristinae can occur 6.
- The management of TE involves referral to specialized pediatric centers, with the option of intestinal transplantation, and the use of new biomarkers to identify histological lesions and predict outcomes 2, 3.