A meta-analysis of clinical outcome in patients with total intestinal aganglionosis

Abstract

Total intestinal aganglionosis (TIA) is the most extreme and rare form of Hirschsprung disease (HD). Until few years ago TIA was considered to be a uniformly fatal condition. Survival has improved in the recent years with the advent of parenteral nutrition, innovative surgical techniques and small bowel transplantation. The purpose of this meta-analysis was to determine the clinical outcome of TIA following various surgical procedures. A meta-analysis of cases of TIA reported in the literature between 1985 and 2009 was performed. Detailed information was recorded regarding the extent of aganglionosis, surgical procedures performed and clinical outcome. In case of survivors, authors of reports were contacted to obtain the up-to-date clinical status of the patient. There were 68 cases of TIA reported worldwide, 40 (58.8%) males and 28 (41.2%) females. 6 (8.8%) patients had extension of aganglionosis up to the stomach, 19 (27.9%) up to the duodenum and 43 (63.2%) patients had aganglionosis up to 20 cm below the duodeno-jejunal flexure. Family history of HD was documented in 10 (14.7%) patients. RET-gene mutation were identified in 10 (71.4%) of the 14 patients investigated of RET germline mutations. Eleven patients (16.2%) died prior to surgical treatment, 25 patients (36.8%) only had jejunostomy, while 20 (29.4%) had Ziegler's myectomy-myotomy. 12 (17.6%) patients received intestinal transplantation (ITx) or combined liver-intestinal transplantation (LITx). Forty-five (66.2%) patients died at ages ranging from 1 day to 8 years. Twenty-three (33.8%) patients were alive; the longest survivor was 10 years old after LITx. Innovative surgical procedures and parenteral nutrition have improved clinical outcome of patients with TIA in recent years. Intestinal transplantation appears promising in the management of TIA.