Reversal of Intestinal Failure in Children With Tufting Enteropathy Supported With Parenteral Nutrition at Home.

ABSTRACT

OBJECTIVES: The aim of the study was to review long-term outcome of intestinal epithelial dysplasia (IED)/tufting enteropathy (TE) patients treated with parenteral nutrition (PN) at home managed by an intestinal failure (IF) rehabilitation service. METHODS: Infants presenting from 1986 to 2010 with IF, and TE histology were retrospectively reviewed for up to 30 years. Data collected included outcome, presentation, nutrition (parenteral/enteral), country of residence, race, EpCAM gene, growth, bone age, and occupation. RESULTS: Thirteen patients (6 boys) in Malta and the UK with TE histology were established on home PN. Survival was 100% for UK children and 92% overall (1 death aged 13 months). Six patients (50% of the surviving 12) weaned off PN. Overall PN requirements reduced with increasing age and <7 infusions/week were needed by 10/12, 83% by 10 years, 6/8, 75% who had reached 15 years, 5/7, 71% who had reached 20, and all 4, 100% >25 years. Two of 12 cases weaned from PN by 10 years, 1 of 8 by 15 years, 3 of 7 by 20 years, and 3 of 4 or 75% >25 years. Seven Maltese patients homozygous for the same EPCAM gene abnormality had a similar outcome to the other cases. Weight, height, bone mineralization, bone age, and insulin-like growth factor-1 (IGF-1) levels were low, but improved with age. Patients achieved educational levels of parents and were employed. CONCLUSIONS: IED cases should have >92% chance of long-term survival and >50% chance of enteral autonomy by/in early adult life and 75% by 25 years. Even if PN dependent s/he can gain employment. Patients with IED managed on PN at home by an IF rehabilitation service should avoid intestinal transplant.