Long-Term Functional and Psychosocial Outcomes of Hirschsprung Disease

Purpose This review aims to provide a comprehensive overview of long-term functional and psychosocial outcomes in patients with Hirschsprung disease (HSCR), with particular focus on bowel, urinary and sexual function, fertility, quality of life (QoL), nutrition, comorbidities, structured follow-up and transition of care. Methods This narrative review summarizes current evidence from cohort studies, meta-analyses, and international guidelines addressing long-term outcomes in children, adolescents, and adults with HSCR. Emphasis was placed on functional results, psychosocial well-being, QoL and risk factors for adverse outcomes. Results Many patients experience persistent bowel dysfunction including soiling, obstructive symptoms or constipation, and Hirschsprung-associated enterocolitis after pull-through. Symptoms often improve with age, but may persist into adulthood, particularly in patients with extended aganglionosis or associated syndromes. Lower urinary tract symptoms are common, while true urinary incontinence is rare. Female patients have reduced sexual function and impaired fertility compared with controls, whereas male fertility appears largely unaffected. QoL may be affected in both child- and adulthood, especially on gastrointestinal-specific instruments. Risk factors for lower QoL include bowel dysfunction, female sex, and long-segment disease. Functional and psychosocial problems often cluster in subgroups of patients. Structured multidisciplinary follow-up and transition of care programs are important to detect and manage morbidity across different stages in life. Conclusion HSCR is associated with significant long-term functional and psychosocial morbidity. Multidisciplinary follow-up, with structured transition of care programs, is essential to optimize functional outcomes, psychosocial well-being and QoL. Level of evidence Level V