Intestinal Failure in Hirschsprung´s Disease

Aim of the Study: Hirschsprung´s disease (HD) can lead to intestinal failure (IF) due to the extent of small bowel (SB) involvement or surgical complications. Our aim is to describe the experience with patients diagnosed with HD and IF assessed in a multidisciplinary intestinal rehabilitation unit (IRU). Patients and Methods: Retrospective study of patients with IF that referred to the IRU since 1995. Patients diagnosed with HD were included regardless of SB involvement. Demographic and clinical data, as well as diagnostic and treatment variables were analyzed. Results: Seventeen patients met the inclusion criteria. First assessment was at 6 (0.16-192) months and all of them had parenteral nutrition dependency. Genetic assessment revealed a mutation in 53% (RET (8) and ZEB2 (1) genes) of which 78% had SB aganglionosis. Patients, received a median of 6 (1-11) laparotomies, 33% of them before HD was confirmed. IF was related to SB aganglionosis in 12, and massive bowel resection due to ischemia or volvulus in 5. Eight patients with IF associated liver disease were listed for transplantation: 2 died on the waiting list, 3 received a multivisceral graft and are off PN, and 2 are still waiting. One had contraindication for transplantation. Overall survival was 82% after a 27 (1-204) month follow-up. Conclusion: Extended and complicated cases of HD can potentially end in IF. Timely referral to IRUs when IF is foreseen is strongly recommended. Combination of optimal PN management, surgery, and intestinal transplantation allowed a good outcome, including long term survival in most cases.