Chinese Expert Consensus Statement on the Diagnosis and Treatment of Hirschsprung Disease (2024, English Version)

Core Information

• Full Title: Chinese Expert Consensus Statement on the Diagnosis and Treatment of Hirschsprung Disease (2024)
• Publication: Chinese Medical Journal (Engl), 2024, Vol 137(5): 505–514; DOI: 10.1097/CM9.0000000000003010; Epub Feb 1, 2024.
• Lead Authors: Tianqi Zhu, Weibing Tang, Jiexiong Feng; Chinese Research Group of Hirschsprung Disease.
• Core Purpose: Standardize diagnostic algorithms, surgical strategies, perioperative management, and long‑term follow‑up for Hirschsprung disease (HSCR) in China, with evidence‑based recommendations and grading (Grade 1A/1B/1C, strong/weak).
• Scope: Covers newborn screening, imaging, histopathology, surgical approaches (minimally invasive preferred), enterocolitis (HAEC) prevention, nutrition, and long‑term bowel function rehabilitation.

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1. Clinical Presentation & Screening Recommendations

1.1 Key Clinical Clues

• Neonatal presentation: Delayed passage of meconium (>24 h), abdominal distension, bilious vomiting, feeding intolerance, recurrent enterocolitis (HAEC).
• Older children: Chronic refractory constipation, abdominal distension, poor growth, soiling, recurrent HAEC.

1.2 Screening Recommendations

• Recommendation 1: HSCR must be suspected in all neonates failing to pass meconium within 24 h after birth. (Grade 1A)
• Recommendation 2: Digital rectal examination (DRE) is mandatory for screening HSCR and excluding anorectal malformations; explosive stool/gas release after DRE is highly suggestive. (Grade 1B)

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2. Diagnostic Workup (Stepwise Algorithm)

2.1 Imaging: Contrast Enema (CE)

• Recommendation 3: CE is the first‑line imaging; the transition zone (TZ) between the narrow aganglionic distal segment and dilated proximal ganglionic colon is the hallmark. (Grade 1A)
• Pearls: CE has lower accuracy (~25%) for total colonic aganglionosis (TCA); “question mark sign” or normal‑appearing colon may occur. CE should not replace histopathology.

2.2 Anorectal Manometry (ARM)

• Recommendation 4: ARM supports diagnosis by demonstrating absent rectoanal inhibitory reflex (RAIR). It is useful for atypical cases and differentiating HSCR from functional constipation. (Grade 1B)
• Limitation: False negatives in neonates <1 month; not definitive for TCA.

2.3 Definitive Diagnosis: Histopathology (Gold Standard)

• Recommendation 5: Preoperative diagnosis relies on rectal biopsy:
  • Rectal suction biopsy (RSB): First‑line for most patients; demonstrates absence of ganglion cells and hypertrophic nerve fibers (AChE staining positive). (Grade 1A)
  • Full‑thickness rectal biopsy (FTRB): Indicated for RSB failure, TCA suspicion, or atypical morphology. (Grade 1B)
   
• Recommendation 6: Intraoperative frozen section is mandatory to confirm the proximal resection margin has normal ganglion cells before pull‑through. (Grade 1A)
• TCA note: Appendiceal biopsy may help but is not definitive due to possible inflammation‑induced ganglion cell degeneration.

2.4 Genetic Testing

• Recommendation 7: Targeted genetic testing (e.g., RET, EDNRB, GDNF) is recommended for familial cases, TCA, syndromic HSCR, or recurrence risk counseling. (Grade 1C)

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3. Preoperative Management

3.1 Bowel Preparation & HAEC Prophylaxis

• Recommendation 8: Serial rectal irrigations are first‑line to relieve obstruction, prevent HAEC, and optimize bowel condition preoperatively. Antibiotics are indicated for established HAEC. (Grade 1A)

3.2 Nutritional Optimization

• Recommendation 14: Malnourished patients require personalized preoperative nutritional support (enteral/parenteral) to reduce perioperative complications. (Grade 1C)

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4. Surgical Treatment: Core Recommendations

4.1 Single‑Stage vs. Multistage Surgery

• Recommendation 9: Single‑stage pull‑through is preferred for stable patients (short‑segment/ common HSCR) to shorten hospital stay, reduce procedures, and avoid stoma‑related morbidity. Multistage (stoma → definitive pull‑through) is reserved for unstable neonates, severe HAEC, TCA, or technically challenging cases. (Grade 1C)

4.2 Preferred Surgical Approaches

• Minimally invasive surgery (MIS): Laparoscopic/robotic transanal pull‑through is the standard of care in experienced centers. Benefits: less pain, faster recovery, better cosmesis, equivalent oncologic/functional outcomes vs. open. (Grade 1A)
• Open surgery: Reserved for extreme cases (massive dilation, severe adhesions, complex TCA).

4.3 Commonly Used Pull‑Through Procedures

• Transanal endorectal pull‑through (TERPT): Most widely used in China; good functional outcomes, minimal abdominal dissection. (Grade 1A)
• Swenson, Soave, Duhamel: Acceptable alternatives; center‑surgeon preference based on anatomy and expertise. (Grade 1B)
• TCA: Total colectomy + ileo‑procto‑anastomosis, often with protective ileostomy in neonates/infants.

4.4 Key Surgical Principles

• Resect the entire aganglionic segment; confirm proximal margin ganglion cells intraoperatively.
• Preserve the sphincter complex and pelvic nerves to minimize incontinence.
• Tension‑free anastomosis; consider diverting stoma for high‑risk patients (TCA, prematurity, severe HAEC).

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5. Perioperative & Postoperative Complications

5.1 Hirschsprung‑Associated Enterocolitis (HAEC)

• Recommendation 10: HAEC is the leading cause of mortality; early recognition (fever, distension, bloody diarrhea, shock) and aggressive resuscitation (fluids, broad‑spectrum antibiotics, rectal irrigations) are mandatory. (Grade 1A)
• Secondary prevention: Postoperative irrigation protocols, probiotics, and parental education reduce recurrence.

5.2 Other Complications

• Anastomotic stricture: Early dilatation; refractory cases may require revision.
• Enteric fistula, pelvic sepsis: Require urgent reoperation.
• Functional disorders: Incontinence, constipation, diarrhea; managed with bowel rehabilitation.

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6. Postoperative Rehabilitation & Long‑Term Follow‑Up

6.1 Bowel Rehabilitation

• Recommendation 15: Structured postoperative rehabilitation (dietary modification, toilet training, biofeedback, behavioral intervention) reduces HAEC recurrence and improves continence. (Grade 1B)

6.2 Long‑Term Follow‑Up

• Follow‑up at 1, 3, 6, 12 months and annually thereafter.
• Assess bowel function (continence, constipation, soiling), growth, nutritional status, and quality of life.
• Adolescent/adult transition: Address psychosocial issues and long‑term functional outcomes.

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7. Special Situations

7.1 Total Colonic Aganglionosis (TCA)

• ~10% of HSCR; male:female ≈ 2:1.
• CE often misleading; definitive diagnosis requires full‑thickness biopsy (rectum + appendix + colon).
• Surgical strategy: Total colectomy + ileal pull‑through; staged with stoma often needed in neonates.

7.2 Long‑Segment HSCR

• Extends beyond the sigmoid; may require laparoscopic/robotic mobilization of the left/transverse colon.
• Frozen section mapping critical to define the proximal ganglionic limit.

7.3 Syndromic HSCR

• Associated with Down syndrome, Waardenburg, Goldberg‑Shprintzen, etc.
• Multidisciplinary care (genetics, cardiology, neurology) is mandatory.

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8. Evidence Grading Summary (Key Recommendations)