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 guiding treatment decisions. 1
Required Diagnostic Workup
Patients with suspected achalasia require a comprehensive evaluation including:
Clinical history: Assess for dysphagia to both solids and liquids, regurgitation of undigested food, chest pain, and weight loss—the cardinal manifestations of achalasia 2. Screen specifically for autoimmune conditions (systemic sclerosis, Addison's disease), allergic disorders, and in endemic areas, Chagas disease 3.
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 establishes disease severity. A 13-mm barium tablet can elicit subtle narrowing at the EGJ 1.
High-resolution manometry: Defines achalasia subtype (Types I, II, or III) according to Chicago Classification, which is crucial for phenotype-directed treatment 1.
Functional luminal impedance planimetry (FLIP): Useful adjunct when diagnosis is equivocal. Low distensibility index at the EGJ can confirm achalasia when manometry is inconclusive 1.
Critical Diagnostic Pitfalls
- Early disease may have subtle symptoms and incomplete manometric criteria, leading to missed diagnosis 2.
- Late-stage disease may show very low LES pressure mimicking absent contractility rather than achalasia 2.
- EGJ outflow obstruction requires imaging (EUS or CT) to exclude secondary causes including malignancy, eosinophilic esophagitis, or infiltrative disease 1.
Treatment Algorithm by Achalasia Subtype
Type I and Type II Achalasia
For Types I and II achalasia, pneumatic dilation (PD), laparoscopic Heller myotomy (LHM), and per-oral endoscopic myotomy (POEM) are all effective options, but the decision should prioritize patient-specific factors and local expertise. 1
Treatment Options:
Pneumatic dilation: Lower morbidity and cost compared to surgery, with 68-90% symptom improvement 1, 4, 5. Anticipate need for repeat dilations over years 1. Superior to botulinum toxin injection 4.
Laparoscopic Heller myotomy with fundoplication: Provides 90% symptom relief with low complication rate (6.3%) 1, 4. Adding fundoplication significantly reduces postoperative reflux (8.8% vs 31.5% without fundoplication) 4.
POEM: Superior to PD and noninferior to LHM in randomized controlled trials 1. Offers 89-97% symptom improvement 1. Technical advantages include no abdominal incisions, rapid recovery, and ability to extend myotomy length 1.
POEM-Specific Considerations:
- Should only be performed by experienced physicians in high-volume centers (20-40 procedures needed for competence) 1.
- Post-POEM patients are high risk for reflux esophagitis and require 8 weeks of proton pump inhibitor therapy, with potential need for indefinite PPI therapy and surveillance endoscopy 1, 6.
- Insufficient data for advanced esophageal dilation, sigmoidization, epiphrenic diverticulum, or hiatal hernia 1.
Type III Achalasia (Spastic Achalasia)
POEM should be considered the preferred treatment for Type III achalasia, with myotomy length calibrated to the proximal extent of the spastic segment. 1
- Type III achalasia is characterized by spastic body contractions and requires myotomy tailored to the spastic segment rather than confined to the LES alone 1.
- POEM allows unlimited proximal extension of myotomy compared to laparoscopic approach, though long-term outcomes on extended myotomies are limited 1.
- Calibrate myotomy length using HRM to identify spastic segment or EUS to identify thickened esophageal segment 1.
EGJ Outflow Obstruction
Many cases of EGJ outflow obstruction resolve spontaneously (20-40%), so intensive evaluation is mandatory before considering definitive treatment. 1
- Image the EGJ with EUS or CT to exclude secondary causes (malignancy, eosinophilic esophagitis, infiltrative disease, hiatal hernia, obesity) 1.
- Use FLIP, timed barium esophagram, or multiple repetitive swallows on HRM to establish need for treatment 1.
- If achalasia therapies are applied after thorough evaluation, treat as Type II achalasia 1.
- Evidence for POEM in EGJOO is limited and should only be considered case-by-case after less invasive approaches are exhausted 1.
Treatments to Avoid or Use Sparingly
Botulinum toxin injection: Variable results (40.6% symptom relief) with high need for additional therapy (46.6%) 4, 5. Reserve for patients who cannot undergo balloon dilation and are not surgical candidates 5, 7.
Pharmacologic therapy (calcium channel blockers, nitrates): Variable, transient improvement with tolerance and side effects 5, 7, 8. Only for patients not candidates for definitive therapy 5.