In the majority of cases the severity of the malabsorption and diarrhoea make them dependent on daily long term total parenteral nutrition.
[3] Histological examination of the small bowel shows varying degrees of villous atrophy, with low or without mononuclear cell infiltration of the lamina propria.
The most important feature involves the epithelium where the surface enterocytes are disorganized with focal crowding creating structures resembling tufts.
Other features that have been reported include the abnormal deposition of laminin and heparan sulfate proteoglycan within the basement membrane and increased expression of desmoglein.
These tufts were composed of closely packed enterocytes with apical rounding of the plasma membrane, resulting in a teardrop configuration of the cells.