Intestinal epithelial dysplasia

[MIM 613 217]

(tufting enteropathy, congenital intractable diarrhea with epithelial abnormalities, DIAR5)

Prevalence estimated at 1/50 000 and 1/100 000 live births in Western Europe; it seems more common in patients of Arabic origin. Probable autosomal recessive transmission of a mutation of gene EPCAM (2p21). Probable anomaly of the development or differentiation of the enterocytes in the small bowell and the colon. Early onset enteropathy manifesting as intractable diarrhea sometimes causing irreversible intestinal failure. Watery diarrhea from the first days of life that persists despite bowel rest and parenteral nutrition. 

Cases related to a mutation of the SPIT2 gene have other anomalies: choanal, rectal or esophageal atresia; nonspecific punctuate keratitis was observed in more than 60% of cases. 

Histology shows various degrees of villous atrophy, with characteristic histological abnormalities affecting the epithelium: disruption of the surface enterocytes and focal clusters resembling tufts. Abnormalities of the basal membrane are also present: abnormal distribution of the a2ß1 integrin. In most patients the severity of intestinal malabsorption leads to total dependence on long-term parenteral nutrition. Indication for intestinal transplantation. 


Anesthetic implications: 

check hydration, electrolytes and liver function. Risk of post-infectious thrombosis of central venous catherters (echoguided placement)


References : 

-        Goulet O, Salomon J, Ruemmele F et al.
Intestinal epithelial dysplasia (tufting enteropathy).
Orphanet J Rare Diseases 2007; 2: 20 doi 10.1186/1750-1172-2-20


Updated: June 2021