Abstract
BACKGROUND: There has been an increasing number of single-centre studies describing the long-term outcomes of patients with Hirschsprung disease. This study aimed to systematically review the literature on long-term bowel, urological, and sexual functional outcomes, fertility and quality of life in adults with Hirschsprung disease. METHODS: A PROSPERO-registered systematic review of the English literature was conducted for studies published up to July 2025 that reported functional outcomes beyond childhood (≥16 years) for patients who had undergone surgery for Hirschsprung disease. Centres were contacted individually for secondary analyses of patient-level data on bowel function score, Gastrointestinal Quality of Life Index, and Short Form 36 questionnaire. Data were analysed and compared with those from healthy controls in the studies retrieved and from a reference healthy population. Hirschsprung disease clinical and surgical variables were correlated with these outcomes of interest in a patient-level analysis. RESULTS: Fifty-three manuscripts fulfilled the inclusion criteria of 4277 papers retrieved. Patients with Hirschsprung disease had a greater likelihood of constipation (odds ratio 9.27, 95% confidence interval (c.i.) 4.78 to 18.06) and soiling (odds ratio 2.76, 1.96 to 3.89) compared with healthy controls. They scored lower on the Gastrointestinal Quality of Life Index (mean difference -5.21, 95% c.i. -9.53 to -0.89; P = 0.020). There were no significant differences in Short Form 36 domain scores except for physical functioning (mean difference -6.30, -8.74 to -3.87; P < 0.001). At a patient level, longer-segment disease (P < 0.001) and redo pull-through surgery (P = 0.002) were associated with a poorer bowel function score. Short form 36 scores were lower in women across six of eight domains; similarly, Gastrointestinal Quality of Life Index scores were lower in women (P < 0.001) and in patients with longer-segment disease (P < 0.001). CONCLUSION: Among patients with Hirschsprung disease, women, those with longer-segment disease, and patients who underwent redo surgery may be at risk of poorer quality of life.