The journey of patients with Hirschsprung disease: from diagnosis to long-term outcomes

Hirschsprung disease (HD) is a congenital intestinal disorder caused by the absence of ganglion cells in the distal bowel, resulting in obstructive symptoms. Diagnosis involves rectum suction biopsy (RSB) or full-thickness biopsy (FTB). Treatment consist of surgically removing the affected segment. An incomplete removal is called a transition-zone pull-trought (TZPT)
Chapter 1 introduces the epidemiology, pathophysiology, diagnosis and treatment of HD.
Chapter 2 examines final diagnoses, risk factors and complications in patients under six months referred for RSB. The most common diagnosis was HD, followed by functional constipation. Risk factors were male sex, an associated syndrome, meconium passage beyond 48 hours, abdominal distension, bilious vomiting and failure to thrive. Minor complications occured in 0.8%. RSB is therefore safe and should be performed at a low threshold.
Chapter 3 addresses the same questions as chapter 2, but in patients older than six months. Funtional constipation was the most common diagnosis, followed by HD. Risk factors were abdominal distension, vomiting and the absence of abdominal pain. Minor complications occured in 0.4% followed RSB en 0.9% after FTB. 
Chapter 4 assesses complications arising while awaiting definitive surgery. 17% developed a complication, including one death. Total colonic aganglionosis (TCA) carried a higher risk, so waiting time should be minimised in these patients.
Chapter 5 investigates the long-term outcomes of patients with TZPT, managed either surgically or conservatively, compared with patients without TZPT. TZPT was associated with obstructive symptoms and redo pull-throughs, arguing for better intra-operative diagnostics.
Chapter 6 compares long-term outcomes in patients with TZPT treating conservatively or surgically. No differences emerged in quality of life, functional outcomes or required interventions, supporting conservative management of TZPT.
Chapter 7 compares patients diagnosed before and after six months of age. No significant differences were found in short-term postoperative complications, long-term quality of life, functional outcomes or required interventions.