In an adult with progressive dysphagia to solids and liquids, weight loss, and no evidence of mechanical obstruction, how should achalasia be diagnosed and managed?

Achalasia: Diagnosis and Management

In an adult presenting with progressive dysphagia to both solids and liquids with weight loss and no mechanical obstruction, proceed directly to high-resolution esophageal manometry to confirm achalasia, then treat definitively with either pneumatic dilation or laparoscopic Heller myotomy (with POEM preferred for Type III), selecting the specific approach based on Chicago Classification subtype determined by manometry. 1

Diagnostic Approach

Clinical Recognition

• Dysphagia to both solids AND liquids simultaneously is the pathognomonic presentation that should immediately raise suspicion for achalasia, distinguishing it from mechanical obstruction which typically affects solids first 2
• Regurgitation of undigested food and saliva, particularly postprandially, occurs due to esophageal retention and fermentation 2
• Chest pain results from esophageal pressurization and spasm, especially prominent in Type II and Type III subtypes 2
• Weight loss is a cardinal feature reflecting the severity of dysphagia 2, 3
• Pulmonary symptoms (cough, aspiration, recurrent infections) occur from nocturnal regurgitation 2

Diagnostic Testing Sequence

Step 1: Upper endoscopy - Perform first to exclude mechanical obstruction and malignancy; look for retained saliva with a puckered gastroesophageal junction 3

Step 2: Barium esophagram - Shows dilated esophagus with "bird's beak" narrowing at the gastroesophageal junction, confirming functional obstruction 3, 4

Step 3: High-resolution manometry (DEFINITIVE TEST) - This confirms the diagnosis and is mandatory before treatment 1, 5, 6

• Demonstrates absent peristalsis in the esophageal body 2
• Shows impaired lower esophageal sphincter relaxation with elevated integrated relaxation pressure (IRP) 7
• Classifies achalasia into Chicago Classification subtypes, which is critical for treatment selection 1

Critical Diagnostic Pitfalls

• Early disease may have subtle manometric findings that don't meet full diagnostic criteria, leading to delayed diagnosis 2
• Late-stage disease may show very low LES pressure mimicking absent contractility rather than achalasia, requiring functional luminal imaging 2
• EGJ outflow obstruction can mimic achalasia and requires intensive evaluation (endoscopic ultrasound, CT, timed barium esophagram) before permanent interventions 1

Treatment Algorithm Based on Chicago Classification

Type II Achalasia (Panesophageal Pressurization)

Offer any definitive therapy - all work excellently in Type II 1

• Success rates: Pneumatic dilation 90-91%, Heller myotomy 100%, Botulinum toxin 71% 1
• Type II demonstrates the best treatment response across all therapeutic modalities 1
• Choose based on patient preference, local expertise, and comorbidities 1

Type I Achalasia (Minimal Pressurization - End-Stage)

Proceed with pneumatic dilation or laparoscopic Heller myotomy 1

• Represents decompensated, dilated esophagus with intermediate treatment response 1
• Avoid botulinum toxin as primary therapy given lower success rates 1

Type III Achalasia (Spastic Contractions)

POEM with extended myotomy is the preferred treatment when expertise is available 1

• Type III shows the poorest response to standard LES-directed therapies (success rates only 29-33%) 1
• Requires specialized management targeting the spastic esophageal body, not just the LES 1
• Standard pneumatic dilation and Heller myotomy have unacceptably low success rates 1

Definitive Treatment Modalities

Pneumatic Dilation

• Overall success rate 78%, with women and older patients responding best 4
• Graded approach with increasing balloon sizes 4
• May require repeat procedures over time 4, 6

Laparoscopic Heller Myotomy

• Overall success rate 87%, with young male patients being best candidates 4
• Should be combined with partial fundoplication 4
• Requires 360-degree treatment approach to address symmetrically elevated sphincter pressure 7

Peroral Endoscopic Myotomy (POEM)

• Increasingly emerging as treatment of choice for many patients 8
• Targets the uniformly affected circular muscle layer around entire LES circumference 7
• Long-term success rates 80-85% for EGJ outflow obstruction 1
• Mandatory for Type III achalasia when expertise available 1

Botulinum Toxin Injection

• Reserved for older patients or those with significant comorbidities who cannot undergo definitive therapy 4, 6
• Not appropriate as primary therapy in younger, healthier patients given lower success rates 1

Key Management Principles

Achalasia cannot be cured - all treatments aim to disrupt the LES to improve bolus passage and provide symptomatic relief 8, 5, 4

Treatment must be individualized by subtype - the Chicago Classification subtype determines optimal therapy selection and predicts treatment success 1

Repeat procedures are often necessary - the disease is rarely "cured" with a single procedure, and intermittent touch-up treatments may be required over time 4, 6