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.