Related Experiment Videos
Natural history of adult Hirschsprung's disease
Insights
Adult Hirschsprung's disease presents with severe constipation since birth. Surgical intervention significantly improves symptoms in most adult patients diagnosed with this rare condition.
Area of Science:
- Gastroenterology
- Colorectal Surgery
- Pediatric Surgery
Background:
- Hirschsprung's disease is a congenital condition typically diagnosed in infancy.
- Adult presentation of Hirschsprung's disease is rare and often misdiagnosed.
- Understanding the natural history and diagnostic challenges in adults is crucial.
Purpose of the Study:
- To review the natural history of adult Hirschsprung's disease.
- To identify key diagnostic features and treatment outcomes in adult patients.
- To emphasize the importance of considering Hirschsprung's disease in adults with chronic constipation.
Main Methods:
- Retrospective review of 22 adult patients with Hirschsprung's disease (4 from own institution, 18 from literature).
- Analysis of clinical presentation, diagnostic findings (barium enema, anorectal manometry, rectal biopsy), and treatment outcomes.
- Evaluation of diagnostic criteria and surgical success rates.
Main Results:
- Diagnosis occurred before age 30 in nearly half of patients, with the oldest diagnosed at 69.
- A male predominance (4:1 ratio) and severe, lifelong constipation were common.
- Radiological findings included rectal narrowing (77%) and colonic dilation (100%); rectal biopsy confirmed aganglionosis in all.
- Surgical treatment improved symptoms in over 80% of patients.
Conclusions:
- Adult Hirschsprung's disease is characterized by severe, lifelong constipation and a male predominance.
- Diagnostic tools like barium enema and rectal biopsy are essential for diagnosis in adults.
- Surgical correction is effective in managing symptoms of adult Hirschsprung's disease.
Abstract:
The natural history of adult Hirschsprung's disease was reviewed in 22 patients (four from our hospital and 18 from the literature). The diagnosis in nearly half the patients was made before age 30, and the oldest patients were 69 years of age. Male to female ratio was 4:1. Almost all patients had severe constipation since birth. Barium enema showed rectal narrowing in 77%, and colonic dilation in 100%. Anorectal manometry was performed in only four patients; three showed no relaxation with rectal distention. In all patients, rectal biopsy showed no ganglion cells. Appropriate operation for Hirschsprung's disease improved symptoms in over 80% of patients. Hirschsprung's disease should be considered in all adult patients who have had severe constipation since birth, especially if they are male.