Achalasia cardia

Cause and pathophysiology

• LES remains abnormally contracted
• LES relaxation on swallowing is impaired
• Normal oesophageal peristalsis is absent

Clinical features

• Progressive dysphagia to both solids and liquids, often from the beginning
• Regurgitation of undigested, non-acidic food, especially on lying down
• Retrosternal chest pain
• Weight loss
• Nocturnal cough, aspiration, recurrent chest infections
• Halitosis or hiccups may occur

Diagnosis

1. Upper GI endoscopy
   • Excludes cancer, stricture, and pseudoachalasia.
   • A normal endoscopy does not rule out achalasia.
2. Barium swallow
   • Dilated oesophagus
   • Smooth tapering at the gastro-oesophageal junction: bird-beak appearance
   • Delayed contrast emptying, absent peristaltic waves.
3. High-resolution manometry
   • The diagnostic gold standard.
   • Shows impaired LES relaxation and absent peristalsis.
   • Subtypes:
     • Type I: classic achalasia, absent pressurisation
     • Type II: panesophageal pressurisation
     • Type III: spastic achalasia with premature contractions

Treatment

Important complications

• Aspiration pneumonia
• Progressive mega-oesophagus
• Malnutrition and weight loss
• Reflux oesophagitis after treatment
• Increased long-term risk of oesophageal carcinoma, especially with long-standing stasis

• Impaired relaxation of the lower oesophageal sphincter / oesophagogastric junction
• Absent normal peristalsis

Type I: Classic achalasia

• Impaired LES relaxation
• 100% failed peristalsis
• No significant oesophageal pressurisation

Type II: Achalasia with panesophageal pressurisation

• Impaired LES relaxation
• Absent peristalsis
• Panesophageal pressurisation in at least 20% of swallows

Type III: Spastic achalasia

• Impaired LES relaxation
• No normal peristalsis
• Premature, spastic distal oesophageal contractions in at least 20% of swallows

Achalasia cardia

Definition

• Failure of relaxation of the lower oesophageal sphincter (LES) during swallowing
• Absence of normal oesophageal peristalsis

Clinical features

• Gradually progressive dysphagia to both solids and liquids
• Regurgitation of undigested, non-acidic food, often worse at night or when lying down
• Retrosternal chest pain
• Weight loss and malnutrition
• Heartburn-like symptoms
• Nocturnal cough, choking, aspiration, or recurrent pneumonia
• Halitosis and hiccups may occur

Types: high-resolution manometry classification

Investigations

1. Upper gastrointestinal endoscopy

• Performed to exclude carcinoma at the gastro-oesophageal junction, peptic stricture, or other causes of obstruction.
• May reveal retained food, saliva, and a dilated oesophagus.
• A normal endoscopy does not exclude achalasia.

2. Barium swallow or timed barium oesophagogram

• Dilated oesophagus with delayed emptying
• Smooth tapering at the lower end: bird-beak appearance
• Air-fluid level in oesophagus
• Absent or reduced gastric air bubble
• In late disease: tortuous sigmoid mega-oesophagus

3. High-resolution oesophageal manometry

• Gold-standard investigation
• Shows elevated integrated relaxation pressure, defective LES relaxation, and absent peristalsis.
• Also identifies type I, II, or III achalasia.

4. CT chest and abdomen or endoscopic ultrasound

• Used when pseudoachalasia is suspected, particularly with older age, rapidly progressive symptoms, or substantial weight loss.
• Helps exclude a malignancy at the gastro-oesophageal junction.

Treatment

Definitive treatment options

1. Pneumatic balloon dilatation
   • Endoscopic balloon dilatation disrupts LES muscle fibers.
   • Effective especially in type I and type II disease.
   • Risk: oesophageal perforation and recurrence.
2. Laparoscopic Heller myotomy with partial fundoplication
   • Surgical division of LES muscle.
   • Fundoplication reduces postoperative reflux.
   • Durable option for type I and II disease.
3. POEM - peroral endoscopic myotomy
   • Endoscopic tunnelling and myotomy of the LES, with or without a longer oesophageal myotomy.
   • Particularly useful for type III spastic achalasia.
   • Post-procedure gastro-oesophageal reflux is relatively common.

Temporary or non-definitive options

1. Botulinum toxin injection into LES
   • Produces temporary symptom relief.
   • Used mainly in frail patients or people unfit for dilatation or myotomy.
   • Not preferred as definitive treatment.
2. Drug treatment
   • Nitrates, calcium-channel blockers, or phosphodiesterase inhibitors may lower LES pressure slightly.
   • Limited effectiveness and generally reserved for patients unable to undergo definitive therapy.

Treatment algorithm for achalasia by manometric type

Before selecting treatment

1. Confirm achalasia with high-resolution manometry.
2. Perform endoscopy to exclude pseudoachalasia due to malignancy or a mechanical stricture.
3. Assess:
   • Manometric subtype: I, II, or III
   • Fitness for anaesthesia and surgery
   • Oesophageal dilatation or sigmoid mega-oesophagus
   • Local expertise in POEM, pneumatic dilatation, and Heller myotomy
   • Patient preference, especially regarding reflux risk and repeat procedures

Algorithm

Confirmed achalasia
        ↓
Is the patient fit for definitive therapy?
        ↓
  Yes                                  No / very frail
  ↓                                    ↓
Choose treatment by HRM type        Botulinum toxin injection
  ↓                                ± smooth-muscle relaxant drugs
Type I or II → PD / LHM / POEM          (temporary palliation)
Type III     → POEM preferred
        ↓
Assess symptoms and oesophageal emptying after treatment
        ↓
Persistent/recurrent obstruction?
        ↓
PD, repeat or alternative myotomy, or POEM depending on prior treatment
        ↓
End-stage sigmoid mega-oesophagus with failed therapies
        ↓
Consider oesophagectomy in a specialist centre

Type I achalasia: classic achalasia

Preferred definitive options

• Pneumatic dilatation (PD)
• Laparoscopic Heller myotomy (LHM) with partial fundoplication
• POEM (peroral endoscopic myotomy)

Practical choice

• PD: reasonable first option, especially when a less invasive approach is preferred and the patient can return for repeat dilatation if needed.
• LHM plus fundoplication: good durable option, particularly where reflux prevention is an important consideration.
• POEM: effective alternative where experienced operators are available, but counsel regarding increased post-procedure reflux.

Type II achalasia: panesophageal pressurisation

Preferred definitive options

• Pneumatic dilatation
• LHM with partial fundoplication
• POEM

Practical choice

• This subtype has the best overall response to LES-disrupting treatment.
• PD or LHM are commonly selected, but POEM is also appropriate where expertise exists.
• Choice is mainly determined by patient preference, local expertise, operative risk, and anticipated reflux.

Type III achalasia: spastic achalasia

Preferred treatment: POEM

• POEM is generally preferred.
• It allows a longer, tailored myotomy extending proximally over the spastic oesophageal segment, as identified on manometry.

Alternatives

• LHM can be used if POEM expertise is unavailable, but the myotomy must be sufficiently long to cover the spastic segment.
• PD is less favoured because it primarily disrupts the LES and does not adequately treat the proximal/distal oesophageal spasm.

Patients unfit for definitive therapy

Botulinum toxin injection

• Injected endoscopically into the LES.
• Provides rapid but often temporary benefit.
• Use for frail older adults or those unable to undergo PD, POEM, or surgery.
• Repeated injections may be needed and can make later myotomy technically more difficult.

Drugs

• Nitrates or calcium-channel blockers may reduce LES pressure slightly.
• Their benefit is limited, so they are used only when invasive therapy is not feasible.

After failed initial therapy

Comparison: POEM vs Heller myotomy vs pneumatic dilatation

1. POEM

• No external incisions.
• Enables a long tailored myotomy, making it especially useful for type III spastic achalasia.
• Strong symptomatic outcomes, comparable with Heller myotomy.
• Can be used after unsuccessful pneumatic dilatation or prior Heller myotomy.

• No fundoplication can be performed at the same procedure.
• Therefore it has the highest rate of pathological gastro-oesophageal reflux and reflux oesophagitis.
• Requires a centre with experienced advanced endoscopists.

2. Laparoscopic Heller myotomy with partial fundoplication

• Established, durable treatment.
• Myotomy directly divides LES muscle.
• A partial fundoplication is added to reduce postoperative reflux.
• Excellent option for type I and type II achalasia.

• Requires laparoscopy, general anaesthesia, and surgical recovery.
• The myotomy is usually shorter than with POEM, so it may be less suitable for extensive type III spasm.
• Adhesions or prior surgery can make future intervention more complex.

3. Pneumatic dilatation

• Least invasive definitive treatment.
• No incision or surgical myotomy.
• Often less costly initially.
• Good results, especially in type II achalasia.
• May be preferable in patients wishing to avoid surgery, if they can tolerate and access repeat procedures.

• May require graded or repeat dilatations.
• Risk of oesophageal perforation, so the patient should be fit for surgical rescue if perforation occurs.
• Less effective for type III achalasia because it mainly treats the LES and not the oesophageal spasm.
• Recurrence or need for retreatment is more common than after a well-performed myotomy in some patients.

Practical subtype-based choice

Bottom line

• POEM: most flexible and preferred for type III, but reflux is a major trade-off.
• Heller myotomy with fundoplication: durable surgery with better reflux protection, especially good for types I and II.
• Pneumatic dilatation: least invasive and cost-effective initially, but may need repeat treatment and is less suitable for type III.