RESUMEN
Objective: To improve understanding and treatment of adult Hirschsprung's disease (HD) and Hirschsprung's disease allied disorders (HAD) by investigating the clinicopatho- logical features, diagnostic and treatment methods, and prognosis. Methods: This was a retrospective observational study. The study cohort comprised patients aged 18-65 years admitted to the Sixth Hospital of Sun Yat-sen University between January 2007 and December 2022 who were diagnosed with adult HD or HAD by postoperative pathological examination. Those with severe cardiovascular disease, diabetes mellitus, or cirrhosis of the liver were excluded, leaving 47 patients in the study cohort. Emergency open surgery was performed on patients with life-threatening manifestations, whereas those whose condition was stable received conservative treatment to stabilize them, following which they underwent a standard surgical procedure. Surgical procedures performed included the Duhamel procedure, Soave procedure, subtotal colonic resection, total colonic resection, and creation of a palliative stoma. Variables studied included clinicopathological characteristics, treatment modalities, postoperative complications, and long-term anal function. Complications were evaluated in accordance with the Clavien-Dindo criteria, and long-term anal function according to the 2005 Krickenbeck International Classification Criteria. Results: Of the 47 patients, 33 were men and 14 women, with a median age of 29 (18-51) years. HD was diagnosed in 41 (87.2%) patients and HAD in six (12.8%). The commonest initial symptom was dyspareunia (70.2%,33/47), followed by abdominal distension (57.4%, 27/47) and abdominal pain (44.7%,21/47). The detection rates of HD/HAD by barium enema + defecography, anorectal manometry, and preoperative rectal biopsy were 86.8% (33/38), 16/19, and 7/7, respectively. Three (6.4%) patients had discrepant preoperative clinical and postoperative pathological diagnoses. None of the three misdiagnosed patients had undergone preoperative rectal biopsy. Of the 47 study patients, three chose non-surgical treatment and 44 surgical treatment. All surgeries were successfully completed. Postoperative complications occurred in 19 patients (43.2%), including one death case who had undergone emergency surgery. The median duration of follow-up after surgery was 65 (12-180) months. Three patients in the surgical treatment group were lost to follow-up. Of the remaining 41 patients, 36, three, and two had excellent, good, and poor long-term anal function, respectively. The differences in outcomes between the surgical and non-surgical treatment groups (no patients, one, and two with excellent, good, and poor long-term anal function, respectively) (Z=-3.883, P=0.001) were statistically significant. Of the 44 patients who underwent surgical treatment, 41 underwent standard surgeries and three emergency surgeries because their conditions were life-threatening. The difference in complication rate between standard surgery and emergency surgery groups (39.0% [16/41] vs. 3/3, χ2=2.115, P=0.146) was not statistically significant. However, the rate of postoperative Grade III-V complications was lower in the standard surgery group (4.9% [2/41] vs. 2/3, Z=-2.668, P=0.008). Long-term anal function was significantly better in the standard surgery than emergency surgery group (94.7% [36/38] vs. 0/3, Z=-4.935, P=0.001). The 41 standard surgeries included 11 Duhamel's procedures, six Soave's procedures, 19 subtotal colonic resections, three total colonic resections, and two palliative colostomies. The incidence of postoperative complications was significantly superior in the Duhanmels procedures and palliative colostomies group(1/11 and 0/2, P=0.041). Of the 41 patients who underwent standard surgery, 23 underwent open surgery and 18 minimally invasive laparoscopic surgery. The incidence of postoperative Grade III-V complications and long-term anal function were significantly superior in the laparoscopic group than in the open group (all P<0.05). Conclusion: It is easy to misdiagnose adult HD and HAD, surgical treatment is safe and feasible, and its long-term efficacy is good.