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Tufting enteropathy

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure

Prevalence

Exact prevalence unknown

N/A

US Estimated

N/A

Europe Estimated

Age of Onset

Neonatal

ICD-10

P78.3

Inheritance Pattern

Autosomal recessive

5 Facts you should know

FACT

Tufting enteropathy, also known as congenital intestinal epithelial dysplasia, is characterized by severe, intractable diarrhea presenting in the neonatal period or early infancy.

FACT

The condition is caused primarily by mutations in the EPCAM gene, leading to abnormal cell adhesion and the formation of distinctive epithelial “tufts” on intestinal biopsy

FACT

Histopathology reveals villous atrophy, epithelial crowding, and focal epithelial tufts without significant inflammatory infiltrate, which helps distinguish it from other congenital diarrheal disorders

FACT

Affected infants typically fail to thrive and are dependent on total parenteral nutrition (TPN), with variable response to enteral feeding strategies

FACT

Management is supportive and multidisciplinary, often requiring long-term TPN and, in severe cases, consideration of small bowel transplantation to improve survival and quality of life

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