Introduction: Intestinal Epithelial Cell Dysplasia (IED)/tufting entropathy is an autosomal recessive condition associated with intractable diarrhoea and intestinal failure (IF). Children with IED are usually dependent on parenteral nutrition (PN) for months or years and in some cases, intestinal transplantation is performed. The objective of this study was to review the long-term outcome of patients with IED, who have access to home PN and who do not undergo transplantation.

Methods: We retrospectively reviewed the records of patients at a specialist children’s hospital, who were diagnosed with IED between 1986 and 2010, and with access to home PN. Thirteen patients (6 male, 7 female) who presented in infancy with diarrhoea and IF, and with characteristic histological findings of tufting enteropathy on intestinal biopsy and supportive genetics, were reviewed at 5 year intervals up to 25 years. Data collected included: demographic data (age, sex, ethnicity), current occupation, clinical presentation, and nutritional details (parenteral and enteral).

Results: All 13 cases presented in infancy with faltering growth and diarrhoea, requiring long-term PN. Six cases were weaned off PN and no patient who gained enteral autonomy needed to restart PN. The proportion of children who had partial PN (<7 nights/week) or were off PN at each age group was: 10 of 12, 83% patients by 10 years, 6 of 8, 75% by 15 years, 5 of 7, 71% by 20 years and 4 of 4, 100% by 25 years. The proportion of children weaned off PN who had reached each age group was: 2 of 12 patients, 17% by 10 years, 1 of 7, 14% by 15 years, 2 of 5, 40% by 20 years and 3 of 4, 75% by 25 years.

Conclusion: Children with tufting enteropathy/IED can survive into adulthood on long-term PN, and usually gain enteral autonomy by early adult life. A child presenting with IED has a 50% chance of gaining enteral autonomy in early 20s and a 75% chance by 25 years. Given this good long-term outcome of patients with IED on PN, intestinal transplantation should be avoided if at all possible.

Table 1: Patient outcomes at time of study.

Figure 1: Amount of parenteral nutrition (PN) required for each patient at different age intervals. 7 nights indicates patients infusing PN 7 nights/week. <7 nights is patients tolerating oral nutrition and PN <7 nights/ week. Off PN indicates patients who have gained enteral autonomy.