Achalasia
Key points
Definition
Achalasia is an oesophageal smooth muscle motility disorder that occurs due to a failure of relaxation of the lower oesophageal sphincter (LOS) causing a functional obstruction at the gastroesophageal junction
Epidemiology
1 in 100,000, 5% in paediatric population - (1 in one million children). Can happen from day 5 of life onwards
Physiology
Normal 3 phases of lower oesophageal sphincter:
Tonic contraction
Reflex relaxation
Transient relaxation
Control of Lower oesophageal Sphincter:
Central nervous system
Myenteric plexus/Interstitial cells of Cajal
Acetylcholine (Contraction)
Calcium
Nitric Oxide (Relaxation)
The LOS is a high pressure zone, but not a specific smooth muscle sphincter
Pathophysiology
Loss of ganglion cells in lower oesophagus ?autoimmune
Does not 'relax' in achalasia
Causes
Primary
Secondary:
Chagas disease caused by Trypanosoma cruzi
Trisomy 21
Allgrove/AAA syndrome: Achalasia, Alacrimia, ACTH resistant adrenal deficiency
Central Hypoventilation syndrome
Types
Chicago Classification (Based on manometry patterns)
Low oesophageal pressure, no contraction
Weak simultaneous, intermittent contractions of entire oesophagus (most common in children - best response to therapy)
Strong, premature, uncoordinated contractions (rarest, worst response to therapy)
Associations
Autoimmune diseases - Type 1Diabetes, Hypothyroid, Sjogrens
History and Examination
Failure to gain weight and progressive weight loss, progressive dysphagia, retrosternal pain, regurgitation, aspiration and recurrent pneumonia, halitosis.
Any patient should be carefully assessed for malnutrition
Eckardt scale to score severity
Investigations
Upper GI endoscopy: Capacious oesophagus -after initial resistance, the scope will pass into stomach
Biopsies to look for eosinophilic oesophagitis, Barrett's oesophagus
Upper GI contrast study: Classical 'birds beak' appearance on contrast swallow
Must distinguish from posterior indentation typical of vascular ring
Oesophageal manometry: looking for above types of achalasia, absence of peristalsis, high LOS resting pressure, failure of relaxation of LOS
Management
Nutritional support - NG or PN
Calcium channel blockers or Nitrates - not effective in children, significant side effects
Botox injections: Good success but retrosternal pain, recurrence, resistance, resulting fibrosis makes subsequent surgery more difficult
Balloon dilatation - 80% success, but 80% recurrence rate, can be temporising measure but again fibrosis can make surgery more difficult
Cardiomyotomy and Dor fundoplication (Fundoplication prevents reflux, can patch perforations, keeps muscle edges apart)
Initial description of Heller Myotomy was done via thorax and both anterior and posterior myotomy performed
Current trend is Laparoscopic anterior cardiomyotomy
Essential steps of Heller’s cardiomyotomy:
Laparoscopic approach
4-5 ports, Liver retractor
Dissect gastro-hepatic Ligament
Identify oesophageal hiatus
Identify gastro-oesophageal junction
Dissect gastro-oesophageal pad of fat
Identify and preserve anterior vagus nerve
Myotomy on anterolateral aspect
7cm over oesophagus, 3cm onto stomach (continuous)
Look/test for perforation
If perforation, can suture laparoscopically
- Liquid diet on day 1
- Home on PPI
- Start solids in 2 weeks
POEM - Per oral endoscopic myotomy, promising early results in children
- Contrast on day 1
Oesophageal resection and replacement for refractory cases
Outcome
Balloon dilatation - most children will recur
Cardiomyotomy - 50% will recur
POEM - uncertain long term outcomes - can do balloon dilatations after, or repeat POEM or Cardiomyotomy
Do yearly follow up - check for recurrence of symptoms
Response of 3 Chicago types:
Type 1 and 2 respond similarly to Myotomy and POEM
Type 3 responds best to POEM
In adults - 50% risk of lifelong reflux
Diffuse oesophageal spasm
Chest pain, dysphagia
Similar manometry pattern to type 3 achalasia however:
Has normal LOS relaxation
Has a corkscrew/rosary bead/shish kebab appearance on contrast swallow, not a birds beak
Same medical and surgical management as Achalasia
Standard scenario
Concerns:
1. Malnutrition
2. Long term management
History:
Swallowing difficulty - pain pattern, regurgitation, consistency of food/liquids
Reflux symptoms
Examination:
Malnutrition
Dental erosion from reflux
Investigations:
Calculate Eckardt score
Bloods - albumin, iron studies - to check nutritional status
UGI contrast - birds beak appearance
OGD + biopsies + pH studies - to check for reflux
Oesophageal manometry - to confirm and define type
Management:
Involve dietician - Nutritional support - NG or PN
Would not use calcium channel blockers or Nitrates - not effective in children
POEM
Safe in children compared to adults - Chinese 2023 series 48 patients ~6y follow up - Bi YW et al
Improvement on Eckardt symptom score in most
Other options:
Balloon dilatation/botox - most will recur
Heller's Cardiomyotomy - 50% recurrence
Follow up:
Transition to adult care - need long term reflux management
Page edited by Mrs Charnjit Seehra BSc November 2024
Page edited by Prof. Ashok Daya Ram MBBS, FRCS, FRCPS, FEBPS, FRCS (Paed Surgery), Consultant Paediatric and Neonatal Surgeon, Norfolk and Norwich University Hospital, Norwich, UK. December 2024
References
Patel DA, Lappas BM, Vaezi MF. An Overview of Achalasia and Its Subtypes. Gastroenterol Hepatol (N Y). 2017 Jul;13(7):411-421. PMID: 28867969; PMCID: PMC5572971.
Rohof, W.O.A., Bredenoord, A.J. Chicago Classification of Esophageal Motility Disorders: Lessons Learned. Curr Gastroenterol Rep 19, 37 (2017). https://doi.org/10.1007/s11894-017-0576-7
Hamilton, Nicholas A, et al. "Achalasia." Pediatric Surgery NaT, American Pediatric Surgical Association, 2020. Pediatric Surgery Library, www.pedsurglibrary.com/apsa/view/Pediatric-Surgery-NaT/829667/all/Achalasia.
Bi YW, Lei X, Ru N, Li LS, Wang NJ, Zhang B, Yao Y, Linghu EQ, Chai NL. Per-oral endoscopic myotomy is safe and effective for pediatric patients with achalasia: A long-term follow-up study. World J Gastroenterol. 2023 Jun 14;29(22):3497-3507. doi: 10.3748/wjg.v29.i22.3497. PMID: 37389239; PMCID: PMC10303513.