A systematic review and meta-analysis of Hirschsprung's disease presenting after childhood

Hirschsprung's disease (HD) is characterised by an absence of ganglion cells in the distal bowel, beginning at the internal sphincter and extending proximally to varying distances. It is usually diagnosed in the newborn period, with usual presentation of delayed passage of meconium and abdominal distension, with or without bilious vomiting. HD in adults is rare and is thus often undiagnosed or misdiagnosed. The purpose of this meta-analysis was to review the presentation, treatment and clinical outcome of HD presenting after childhood.

A systematic review and meta-analysis of all cases of HD presenting after childhood in the English literature was performed from 1950 to 2009. Detailed information regarding demographics, clinical presentation and methods of diagnosis, surgical procedure, complications and the outcome at time of follow up was recorded.

There were 490 cases of HD presenting after childhood in the English literature, 341 (69.5%) males, 129 (26.4%) females and 20 (4.1%) cases where gender was not specified. As much as 390 (79.6%) were confined to the rectum, 60 (12.3%) had recto-sigmoid disease, 4 (0.8%) had disease extending to the descending colon and there were 2 (0.4%) cases that extended to the transverse colon and 2 (0.4%) cases of total colonic disease. The extent of disease was not specified in the remaining 32 (6.5%) cases. A total of 49 (10%) patients had the Swenson procedure, 231 (47.2%) patients had the Duhamel procedure, 40 (8.2%) patients had the Soave procedure, 45 (9.2%) patients had a myectomy only, 3 (0.6%) patients had a myectomy combined with colectomy, 14 (2.9%) patients had a myectomy combined with anterior resection. As much as 26 (5.3%) patients had a lower anterior resection (LAR), 28 (5.7%) patients had LAR combined with colectomy, 10 (2%) patients had a colectomy, 1 (0.2%) patient had an anopexy and 4 (0.9%) patients had a colostomy only. A total of 13 (2.7%) patients refused surgery and managed with conservative treatment, and in 25 (5.1%) patients, the specific procedure was not identified. There were 2 (0.4%) deaths reported; 1 patient died prior to surgery due to colonic perforation and sepsis and the 2nd patient died post-operatively due to appendix stump dehiscence, peritonitis and sepsis. The time of follow up ranged from 1 to 25 years and all, but 6 (1.3%) had a very good clinical outcome.

Hirschsprung's disease should be considered in patients who have had chronic constipation since birth. This review suggests that the vast majority of patients in whom HD is diagnosed after childhood have normal bowel function after pull-through surgery.