Hirschsprung disease at a tertiary hospital: Patient profile, management and outcomes

Abstract

Background: Hirschsprung disease (HD), a congenital condition marked by absent ganglion cells in the colon, causes serious digestive problems. It affects 1 in 5000 newborns worldwide, predominantly males. Delayed diagnosis and limited resources influence outcome. The clinical profile, management, and outcomes of HD at Universitas Academic Hospital Complex (UAHC), a tertiary hospital in central South Africa, were investigated.

Aim: The aim was to identify healthcare challenges and enhance patient care in a resource-restricted setting.

Setting: UAHC, Bloemfontein, South Africa.

Methods: A retrospective cross-sectional study of all 65 paediatric surgical patients treated for HD during 2010–2021 was conducted. Data extracted from electronic medical records were analysed regarding demographics, disease presentation, diagnostic methods, treatment approaches and postoperative outcomes.

Results: A total of 65 patients, mostly male (83.1%), with a median age at diagnosis of 87 days, were analysed. Symptoms included abdominal distension and difficulty passing stool; 30.8% developed Hirschsprung-associated enterocolitis (HAEC). Diagnostic methods mainly used rectal suction biopsies. Surgery often required multi-stage procedures due to late diagnosis and extensive disease. Postoperative complications were common (e.g. ileus, surgical site infections, HAEC and hypomotility). Many patients needed additional surgeries. Follow-up indicated not only a high survival rate but also significant loss to follow-up and long-term complications.

Conclusion: Managing HD in resource-limited settings presents major challenges, where late diagnosis and scarce diagnostic resources affect outcomes.

Contribution: Managing HD is challenging because of delayed diagnosis, limited resources, complications and loss to follow-up, necessitating better perioperative care. Early diagnosis and structured follow-up can improve outcomes.