What is the diagnosis and optimal management of achalasia?

Achalasia: Diagnosis and Optimal Management

Diagnosis

Achalasia is diagnosed definitively by high-resolution manometry demonstrating absent esophageal peristalsis and impaired lower esophageal sphincter (LES) relaxation with elevated integrated relaxation pressure (IRP), following clinical suspicion from dysphagia to both solids and liquids, regurgitation, chest pain, and weight loss. 1, 2

Clinical Presentation

• Cardinal symptoms include dysphagia to both solids and liquids simultaneously, regurgitation of undigested food and saliva (particularly postprandially), chest pain from esophageal pressurization, and weight loss 1
• Pulmonary manifestations such as cough, aspiration, and recurrent chest infections occur from regurgitation of retained esophageal contents, especially during recumbency 1
• Symptoms typically persist for 0.5 to 2.8 years before diagnosis due to the insidious progressive nature 1

Diagnostic Workup

• High-resolution manometry (HRM) is the gold standard, showing absent peristalsis and impaired LES relaxation with uniformly elevated IRP measurements 2, 3
• Barium esophagram demonstrates esophageal dilation with narrowing at the gastroesophageal junction, the classic "bird's beak" appearance 4, 5
• Upper endoscopy is essential to exclude pseudoachalasia from malignancy or other structural causes 5
• Additional evaluation with endoscopic ultrasound and computed tomography is recommended when EGJ outflow obstruction is suspected to clarify etiology before permanent interventions 2

Critical Diagnostic Pitfalls

• Early disease may present with subtle symptoms and manometric findings that don't meet full diagnostic criteria, leading to missed diagnosis 1
• End-stage disease (Type I) may show very low LES pressure and IRP, potentially mimicking absent contractility rather than achalasia, requiring functional luminal imaging for accurate diagnosis 1

Classification by Chicago Classification System

The Chicago Classification system stratifies achalasia into three subtypes based on esophageal body pressurization patterns, which directly determines treatment selection and predicts outcomes. 2

Type I Achalasia (End-Stage Disease)

• Minimal or negligible esophageal body pressurization representing a decompensated, dilated esophagus 2
• Intermediate treatment response across all modalities 2

Type II Achalasia (Best Prognosis)

• Panesophageal pressurization with uniform simultaneous pressurization bands spanning from upper to lower sphincter 2
• Best treatment response across all therapeutic modalities: 71% success with botulinum toxin, 90-91% with pneumatic dilation, and 100% with Heller myotomy 2

Type III Achalasia (Spastic)

• Premature (spastic) contractions with particularly severe chest pain 1, 2
• Poorest response to standard LES-directed therapies (only 29-33% success rates), requiring specialized management with extended myotomy, preferably POEM 2

Optimal Management

For most patients with achalasia, laparoscopic Heller myotomy with partial fundoplication or POEM should be the initial definitive treatment, with treatment selection guided by Chicago Classification subtype, local expertise, and patient factors. 2, 6

Treatment Algorithm by Subtype

Type II Achalasia (Any Modality Effective)

• First-line options: Laparoscopic Heller myotomy with partial fundoplication OR POEM OR pneumatic dilation 2, 6
• All three modalities achieve excellent outcomes (90-100% success) 2
• Choice depends on local expertise, patient preference, and comorbidities 7

Type I Achalasia (Intermediate Response)

• Preferred: Laparoscopic Heller myotomy with partial fundoplication OR POEM 2
• Pneumatic dilation is less effective in end-stage dilated esophagus 2

Type III Achalasia (Spastic)

• Strongly preferred: POEM with extended myotomy when expertise is available 2
• Standard LES-directed therapies (pneumatic dilation, standard myotomy) have poor outcomes (29-33% success) 2
• Extended myotomy targeting the spastic esophageal body is essential 2

Specific Treatment Modalities

Laparoscopic Heller Myotomy (LHM)

• Technique: Circular muscle myotomy cutting the LES and extending 2-3 cm onto the stomach, addressing the symmetrically elevated sphincter pressure 3, 8
• Must include partial fundoplication to prevent severe GERD, esophagitis, and peptic stricture which are common complications without fundoplication 8
• Requires 2 days hospitalization with return to work in 1-2 weeks 8
• Provides best long-term symptom control 6

Peroral Endoscopic Myotomy (POEM)

• Technique: Natural orifice transluminal endoscopic surgery approach with 360-degree treatment addressing symmetrically elevated sphincter pressure 3
• Comparable effectiveness and complication rates to laparoscopic Heller myotomy 7
• Essential for Type III achalasia with extended myotomy capability 2
• Long-term success rates of 80-85% in EGJ outflow obstruction 2

Pneumatic Dilation

• Technique: Progressive balloon dilation (3.0,3.5,4.0 cm diameter) disrupting LES muscle from within 8
• Outpatient procedure, most cost-effective option 8, 6
• Repeat dilations often required 8
• Risks: Approximately 2% perforation rate, though severe GERD is rare 8
• Best for: Type II achalasia (90-91% success) or patients preferring less invasive approach 2

Botulinum Toxin Injection

• Technique: Endoscopic injection of 100-200 units into the LES 8
• Short-term relief only (1-2 years maximum) 8
• Reserved for: Elderly patients or those with significant comorbidities precluding definitive therapy 8, 6
• Least effective option (71% success in Type II, 29% in Type III) 2

Medical Therapy

• Smooth muscle relaxants (nitrates, calcium channel blockers) taken immediately before meals 8
• Much less effective than invasive procedures with common side effects and drug tolerance 8
• Reserved for: Temporary symptom relief or patients refusing all procedural interventions 8

Common Pitfalls to Avoid

• Never perform standard myotomy for Type III achalasia without extended myotomy capability, as outcomes are poor (29-33% success) 2
• Always include partial fundoplication with laparoscopic Heller myotomy to prevent severe GERD complications 8
• Avoid botulinum toxin as primary therapy in younger patients or those fit for definitive treatment, as it provides only temporary relief 8, 6
• Do not proceed with permanent interventions in EGJ outflow obstruction without thorough evaluation (EUS, CT) to exclude secondary causes 2