Adult Hirschsprung’s Disease

Educational disclaimer: This article is provided for educational and
editorial review purposes. It is not a substitute for individualised
clinical judgment, current institutional protocols, or formal clinical
practice guidelines. Management of Hirschsprung disease should be carried
out in centres with expertise in pediatric and colorectal surgery.

Introduction

In 1900, Harald Hirschsprung suggested that congenital megacolon could remain undiagnosed in infants and children, some of whom would survive into adulthood. It was not until 1950 that Rosin and colleagues documented the first reported adult case (Rosin, Borgen, and Waugh 1950). Although Hirschsprung disease (HSCR) is overwhelmingly a disorder of infancy and childhood, with an incidence of approximately 1 in 5,000 live births and an overall male predominance of 3–4:1, adult presentation is now well recognised in the literature, most often in patients with short-segment (rectosigmoid) disease and mild lifelong symptomatology (Sergi et al. 2024; Brahmbhatt et al. 2025; Kapur et al. 2025). The following case provides an opportunity to discuss current presentation, investigation, and operative management.

Case report

Historical case:

A twenty-year-old male, JS, presented with constipation since birth. He was dependent on enemata to facilitate defaecation. His abdomen was distended with a large colon loaded with faeces. The rest of his examination was normal.

The results of his investigations were: haemoglobin concentration 13.4 g/dL and white blood cell count 5.7 × 10⁹/L. Serum urea, electrolytes and creatinine were normal. His serum proteins were 62 g/L, albumin 42 g/L, globulin 20 g/L. Plain abdominal radiographs showed masses of faeces in the colon, and a barium enema demonstrated a massively dilated left colon and rectum, full of faeces. Anorectal manometry recorded an abnormal internal sphincter response to rectal distension. Rectal biopsy revealed aganglionosis, confirming the diagnosis of Hirschsprung disease.

The patient was prepared for elective one-stage surgical correction. Preparation included daily enemas and laxatives to achieve bowel clearance. The day before surgery he had a “high colonic washout” through a sigmoidoscope. He underwent a modified Soave endorectal pull-through with incidental appendicectomy. Intraoperative frozen-section examination of an extramucosal biopsy of the distal sigmoid showed ganglion cells and aided in selecting the distal level of bowel pulled down. Intraoperative blood loss was 900 mL. A rectal tube was placed across the coloanal anastomosis for decompression and was removed 48 hours postoperatively. The postoperative course was uncomplicated. The patient was discharged on the seventh postoperative day. At six-week follow-up he was continent of stools with two bowel actions per day.

Modern management

The patient undergoes rectal biopsy to confirm aganglionosis. The workup emphasise water-soluble contrast enema rather than barium (to avoid retained barium in a megacolon), rectal suction biopsy with calretinin immunohistochemistry rather than acetylcholinesterase staining alone, and standardised anorectal manometry documenting the absent rectoanal inhibitory reflex (RAIR) (Kyrklund et al. 2020; Stensrud et al. 2022; Kapur et al. 2025). The pull-through is most often performed as a transanal endorectal pull-through (TERPT) or laparoscopy-assisted Soave or Swenson, sometimes robotic, with negligible blood loss, no routine incidental appendicectomy, and enhanced recovery (ERAS) perioperative care (Granström et al. 2024; Tian et al. 2025; Pan et al. 2025).

Discussion

1. Clinical presentation and epidemiology

Hirschsprung disease occurs in approximately 1 in 5,000 live births, with an overall male predominance of 3–4:1; this male predominance is most pronounced in short-segment disease and diminishes, sometimes reversing, in long-segment and total colonic aganglionosis (Sergi et al. 2024; Wester et al. 2025). Adult-onset diagnosis is uncommon but well described. A 2025 review of 43 adult cases reported a male:female ratio of 1.7:1, mean age 29.8 years, and dominant symptoms of chronic constipation, abdominal distension, and faecal impaction (Brahmbhatt et al. 2025). Acute complications including sigmoid volvulus, toxic megacolon, and bowel perforation occur in a minority and can be the presenting feature.

Adult HSCR is overwhelmingly short-segment, confined to the rectum or rectosigmoid in approximately 80% of cases, which explains the late and often mild presentation (Wester et al. 2025; Brahmbhatt et al. 2025). Associated syndromes and genetic features include Trisomy 21 (the most common, affecting ~10%), Waardenburg syndrome, congenital central hypoventilation syndrome, and multiple endocrine neoplasia type 2A (MEN2A). The RET proto-oncogene on chromosome 10q11.2 is the major susceptibility locus, with both rare coding variants and common non-coding variants contributing to risk; familial cases are reported, and recent work has identified novel structural and compound RET variants (Wang et al. 2024; Lee et al. 2025).

2. Investigation

The diagnostic algorithm in 2026 combines clinical history, imaging, manometry, and definitive histology (Kyrklund et al. 2020; Kapur et al. 2025).

  • Plain abdominal imaging typically shows a heavily faecally loaded, dilated lower colon and may identify acute complications such as volvulus or perforation.
  • Contrast enema with water-soluble agent is preferred over barium in adults to avoid retained contrast in a megacolon. Classical findings are a narrow distal segment, a funnel-shaped transition zone, and a massively dilated proximal loop, but adults frequently lack a clear transition zone because of chronic fecal impaction, lowering the sensitivity of the study (Brahmbhatt et al. 2025).
  • Anorectal manometry is highly sensitive: the absent rectoanal inhibitory reflex (RAIR) in response to rectal balloon distension is present in essentially 100% of HSCR patients and forms the key abnormality (Kapur et al. 2025).
  • Rectal suction biopsy (RSB) remains the gold standard. ERNICA 2020 recommends sampling the posterior and/or lateral rectal wall, at least 2 cm proximal to the dentate line (or 3 cm from the anal orifice), with one open biopsy or two to three suction biopsies, each containing a representative amount of submucosa (Kyrklund et al. 2020). When a suction sample is inadequate, a full-thickness biopsy under anaesthesia is required.
  • Histopathology demonstrates absence of ganglion cells in the submucosal (Meissner) and myenteric (Auerbach) plexuses, with hypertrophic nerve trunks. Calretinin immunohistochemistry is now the preferred adjunctive stain, being absent in aganglionic mucosa and more reproducible across pathologists than acetylcholinesterase histochemistry. Pooled diagnostic accuracy of calretinin staining is high, with sensitivity approaching 100% and specificity around 99% (Stensrud et al. 2022; Holland et al. 2022).
  • Intraoperative full-thickness biopsies with frozen-section assessment are used to define the proximal level of normal ganglionated bowel; transection is recommended at least 5–10 cm proximal to the first normal biopsy to avoid pulling through a transition zone (Kyrklund et al. 2020).

In adults, the differential diagnosis includes idiopathic megacolon and slow-transit constipation; manometry, biopsy, and full-thickness sampling at surgery are the most useful discriminators (Kapur et al. 2025).

3. Operative procedures

Modern techniques

The European Reference Network for rare Inherited and Congenital Anomalies (ERNICA) 2020 consensus considers transanal endorectal pull-through (TERPT), laparoscopy-assisted endorectal pull-through, and the Duhamel pull-through as the principal techniques, with no demonstrated overall superiority of one method over another (Kyrklund et al. 2020). The Soave (endorectal), Swenson (extramucosal coloanal), and Duhamel (retrorectal) approaches remain the conceptual basis. The State-Rehbein deep anterior resection and primary rectal myectomy are now largely of historical interest, with myectomy reserved for highly selected ultrashort-segment cases or as a salvage procedure for postoperative internal sphincter achalasia.

  • Transanal endorectal pull-through (TERPT) is the most commonly used approach in short-segment disease and avoids an abdominal incision. Outcomes in modern series are favourable, with low complication rates (Granström et al. 2024).
  • Laparoscopy-assisted Soave has been compared with pure transanal approaches; in a recent series of 96 patients, the laparoscopic Soave group had shorter operating time, faster gastrointestinal recovery, and shorter hospital stay (Tian et al. 2025).
  • Robotic Soave and other robotic adaptations have been described in dedicated centres (Pini Prato et al. 2020; Mendoza-Moreno et al. 2025).

ERNICA recommends preserving transitional mucosa above the dentate line for sensation and faecal continence; transanal dissection should commence 0.5–2 cm proximal to the dentate line. In endorectal pull-through, either no muscle cuff (Swenson) or a short cuff (<2–3 cm) is preferred; long seromuscular cuffs are associated with obstruction and enterocolitis (Kyrklund et al. 2020). Surgery should ideally be performed in centres with at least two pediatric/colorectal surgeons and 24/7 specialised nursing, anaesthetic, radiological, and pathological expertise.

Single-stage versus staged surgery

Single-stage primary pull-through is now the default in stable patients. Preoperative saline rectal irrigations (one to three times daily) decompress the bowel and avert HAEC in roughly three-quarters of cases without need for a stoma (Kyrklund et al. 2020). A staged approach with diverting stoma is reserved for severe HAEC, perforation, malnutrition, a massively dilated colon failing decompression, total colonic aganglionosis, or significant cardiac or systemic comorbidity (Kapur et al. 2025).

Description of the principal procedures

  • Swenson procedure: abdominal resection of the dilated colon and aganglionic segment, full-thickness pelvic dissection of the rectum, and a perineal coloanal anastomosis. The procedure carries the risk of pelvic nerve injury and infective complications, which are mitigated by modern laparoscopic dissection and sphincter-preserving technique (Sergi et al. 2024).
  • Duhamel procedure: retrorectal pull-through with side-to-side coloanal anastomosis using a posterior incision 0.5–1 cm above the dentate line, preserving part of the internal sphincter cuff. Stapler-assisted septectomy has minimised the risk of septal regrowth. Long-term studies suggest the Duhamel operation is associated with somewhat higher rates of post-pull-through constipation than other techniques (Roorda et al. 2025).
  • Soave endorectal pull-through (Soave–Boley): extramucosal dissection between the seromuscular and mucosal layers of the rectum, with proximal anastomosis to the mucosal stump within the rectal muscular cuff. Complications include constipation from a long or achalatic cuff, stenosis, and cuff abscess (Boley 1964).
  • Rectal myectomy (Lynn): retained as treatment of ultrashort-segment HSCR (aganglionosis confined to 1–3 cm above the mucocutaneous junction) and as salvage for postoperative internal sphincter achalasia. Intrasphincteric botulinum toxin injection is a less invasive modern alternative for internal sphincter achalasia, often used as a diagnostic-therapeutic trial before considering myectomy or redo pull-through (Kapur et al. 2025).

Incidental appendicectomy is no longer routine at the time of pull-through.

4. Perioperative care and ERAS

ERNICA 2020 recommends a single preoperative dose of broad-spectrum intravenous antibiotics covering both aerobic and anaerobic organisms; benefit beyond a single preoperative dose has not been demonstrated, although prolongation for 24–48 hours postoperatively is common practice (Kyrklund et al. 2020). Enhanced recovery (ERAS) protocols in pediatric colorectal surgery, including HSCR, are associated with shorter hospital stay and lower cost without increased complications (Pan et al. 2025; Patel et al. 2025).

5. Hirschsprung-associated enterocolitis (HAEC)

HAEC is the leading cause of morbidity and mortality in HSCR and can occur both before and after pull-through. The preoperative incidence is reported as 6–60% and the postoperative incidence as 25–42%. Risk factors include Trisomy 21 (incidence ~50% versus 29%), male sex, delay in diagnosis, family history of HSCR, congenital anomalies, and long aganglionic segments (Roorda et al. 2024). The Pastor score, developed via Delphi consensus, is now the standardised diagnostic framework, combining history, examination, radiology, and laboratory features; recent work suggests a cut-off score of ≥4 (rather than the original ≥10) maximises sensitivity and specificity (Roorda et al. 2024).

Prevention rests primarily on routine postoperative rectal irrigations, particularly in high-risk infants and when surgery is delayed. Probiotic prophylaxis has not shown benefit in current systematic reviews and Cochrane analyses. Treatment of established HAEC includes prompt rectal irrigations, intravenous fluids, broad-spectrum antibiotics, bowel rest, and surgical consultation for severe cases (Roorda et al. 2024).

6. Long-term outcomes in adults

Long-term functional outcomes after childhood HSCR surgery have been clarified by a 2025 meta-analysis of patients followed beyond 16 years of age (Roorda et al. 2025). Compared with healthy controls, adults with HSCR have:

  • Markedly increased likelihood of constipation (OR 9.27, 95% CI 4.78–18.06)
  • Increased likelihood of soiling on Rintala's Bowel Function Score (OR 2.76, 95% CI 1.96–3.89)
  • Permanent stoma in approximately 3.7% and antegrade colonic enema use in approximately 1.6%
  • Lower resting and squeeze pressures on anorectal manometry
  • Approximately 51% with "normal" bowel function (BFS ≥17), and approximately 11% with a poor outcome (BFS ≤12 or permanent stoma/ACE)

Long-segment disease, redo surgery, syndromic associations, and familial HSCR are associated with worse functional outcome. Adult patients also have higher rates of lower urinary tract symptoms, urinary incontinence (~4%), sexual dysfunction (erectile dysfunction up to 26%, dyspareunia up to 50%, impaired female sexual function up to ~50%), reduced Gastorintestinal Quality of Life Index (GIQLI) scores, and reduced Short Form 36 (SF-36) physical functioning (Roorda et al. 2025). Women appear to be disproportionately affected on several measures, and fertility evaluation in women with HSCR shows a higher need for medical assistance to conceive.

7. Transition of care

A high prevalence of ongoing bowel-function and quality-of-life symptoms in adult survivors makes structured transition from pediatric to adult colorectal surgical care an important component of management. Many patients reach adulthood without a transition conversation and remain symptomatic (Versteegh et al. 2017). Pathways that triage by symptom burden — handover to a regional adult colorectal/GI service for moderate symptom burden, and a dedicated multidisciplinary transition clinic for severe symptoms — have been proposed and implemented in specialist centres (Wester and Granström 2024).

Conclusion

Adult Hirschsprung disease is diagnosed through history, examination, water-soluble contrast enema, anorectal manometry (absent rectoanal inhibitory reflex), and rectal biopsy with calretinin immunohistochemistry. Several abdomino-anal pull-through procedures — transanal endorectal pull-through, laparoscopy-assisted Soave, Swenson, and Duhamel variants — yield good results in experienced hands. Surgeon experience and patient anatomy continue to drive technique selection, but modern practice emphasises single-stage pull-through, sphincter and pelvic-nerve preservation, ERAS perioperative care, HAEC surveillance, and structured long-term follow-up that anticipates ongoing bowel, urinary, and sexual symptoms into adulthood. Care should be delivered in high-volume centres with multidisciplinary colorectal expertise.

References

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