What are the diagnosis and treatment options for a patient with suspected achalasia?

Achalasia: Diagnosis and Treatment

Diagnostic Approach

High-resolution manometry (HRM) is the gold standard for diagnosing achalasia and must be performed to confirm the diagnosis and determine the Chicago Classification subtype, which is essential for selecting optimal treatment. 1

Required Diagnostic Workup

All patients being evaluated for achalasia require a comprehensive diagnostic evaluation including: 1

• Clinical history: Assess for dysphagia to both solids and liquids, regurgitation of undigested food, chest pain, weight loss, and pulmonary symptoms (cough, aspiration, recurrent infections) 2
• Upper endoscopy (EGD): Look for frothy retained secretions, puckered gastroesophageal junction, and perform careful retroflexed examination to exclude pseudoachalasia from malignancy 1
• Timed barium esophagram: Confirms outflow obstruction, shows structural changes, and can be used with a 13-mm barium tablet to detect subtle narrowing at the EGJ 1
• High-resolution manometry (HRM): Defines achalasia subtype (Type I, II, or III) according to Chicago Classification 1
• Endoscopic functional luminal impedance planimetry (FLIP): Useful adjunct when diagnosis is equivocal, showing impaired EGJ opening with low distensibility index 1

Critical Diagnostic Considerations

Screen for secondary causes before confirming idiopathic achalasia: 3

• Autoimmune associations: Systemic sclerosis (skin changes, Raynaud's phenomenon), Addison's disease (hyperpigmentation, hypotension, electrolyte abnormalities) 3
• Chagas disease: Obtain serology in endemic areas or at-risk populations 3
• Eosinophilic esophagitis: Relative risk dramatically elevated at 32.9, particularly in patients ≤40 years 3
• Paraneoplastic syndromes: Consider malignancy screening (lymphoma, lung cancer, breast cancer) in appropriate contexts 3
• COVID-19: Document recent infection, particularly with acute symptom onset 3

Diagnostic Pitfalls to Avoid

• Early disease may have subtle symptoms and manometric findings that don't meet full diagnostic criteria, leading to missed diagnosis 2
• Late-stage disease may show very low LES pressure and IRP, mimicking absent contractility rather than achalasia, requiring FLIP for accurate diagnosis 2
• EGJ outflow obstruction requires intense evaluation (EUS, CT, timed barium esophagram) as 20-40% resolve spontaneously, but 12-40% ultimately require treatment as achalasia 1

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Treatment Algorithm

Type I and Type II Achalasia

For Type I and Type II achalasia, pneumatic dilation (PD), laparoscopic Heller myotomy (LHM), and per-oral endoscopic myotomy (POEM) are all effective therapies; the decision should be based on patient characteristics, local expertise, and patient preference after shared decision-making. 1

Treatment Options and Considerations:

Pneumatic Dilation (PD): 1

• Provides symptom improvement in up to 90% of patients using graded Rigiflex balloons (3.0,3.5,4.0 cm) 4
• Lower morbidity and cost compared to surgery 1
• Anticipate need for repeat dilations over years 1
• Less effective than surgical myotomy for long-term symptom control 5

Laparoscopic Heller Myotomy (LHM) with Fundoplication: 1, 6

• Provides 90% symptom relief with low complication rate (6.3%) 6
• Adding fundoplication reduces postoperative reflux from 31.5% to 8.8% 6
• Most effective surgical technique with best long-term symptom control 6, 5
• Should be considered initial treatment for most patients 5

Per-Oral Endoscopic Myotomy (POEM): 1

• Superior to PD and noninferior to LHM in multicenter RCTs 1
• Symptom improvement in 89-97% of patients with 3-8% adverse events 1
• Should only be performed by experienced physicians in high-volume centers (20-40 procedures needed for competence) 1
• Technical advantages: no abdominal incisions, rapid recovery, easier to perform longer myotomy, avoidance of vagal nerve injury 1

Critical POEM-Specific Considerations:

Post-POEM patients are at high risk for reflux esophagitis and require: 1, 7

• 8 weeks of proton pump inhibitor (PPI) therapy immediately post-procedure 7
• Potential indefinite PPI therapy 1, 7
• Surveillance endoscopy 1
• Patients must be counseled about these management considerations before undergoing POEM 1

Type III Achalasia (Spastic Achalasia)

POEM should be considered the preferred treatment for Type III achalasia when expertise is available. 1

• Type III achalasia is characterized by spastic body contractions and requires myotomy tailored to the proximal extent of esophageal body spasm 1
• POEM provides unlimited proximal extension of myotomy (unlike laparoscopic approach), calibrated to the spastic segment on HRM or thickened segment on EUS 1
• Symptoms are best palliated with extended myotomy rather than LES-confined myotomy 1

Alternative Therapies (Limited Role)

Botulinum toxin injection and pharmacologic therapy have limited roles and should be reserved for patients who cannot undergo definitive treatment: 5, 4

• Botulinum toxin: Only 40.6% symptom relief, 46.6% need additional therapy, inferior to all other options 6
• Calcium channel blockers and nitrates: Variable results, disappointing long-term outcomes due to tolerance and side effects 5, 4
• Reserve these only for patients who are not candidates for PD, surgery, or POEM 5, 4

Treatment Selection Algorithm

1. Confirm diagnosis and subtype with HRM 1
2. Type III achalasia → POEM (if expertise available) 1
3. Type I or II achalasia → Shared decision-making among PD, LHM, or POEM based on: 1
   • Patient age and comorbidities
   • Local expertise availability
   • Patient preference regarding invasiveness, recovery time, and reflux risk
   • Cost considerations
4. Insufficient data exists for POEM in advanced esophageal dilation, sigmoidization, epiphrenic diverticulum, and hiatal hernia 1

Special Populations

EGJ outflow obstruction alone or nonachalasia spastic disorders: 1

• Undergo comprehensive evaluation with symptom correlation
• Evidence for POEM is limited
• Consider treatment only case-by-case after less invasive approaches exhausted 1
• Many cases resolve spontaneously (20-40%) 1