What is the best approach to diagnose and treat a patient with esophageal peristalsis issues, potentially due to conditions like achalasia or scleroderma?

Diagnostic and Treatment Approach to Esophageal Peristalsis Disorders

Patients with dysphagia should undergo endoscopy with biopsies first to exclude structural and mucosal disorders, followed by high-resolution manometry (HRM) to diagnose motility disorders, with treatment decisions guided by the specific manometric subtype identified. 1

Initial Diagnostic Workup

Endoscopy First, Manometry Second

• Perform esophagogastroduodenoscopy (EGD) with biopsies at two esophageal levels before manometry to exclude eosinophilic esophagitis, malignancy, strictures, and inflammatory conditions 1
• Barium swallow should be considered when endoscopy is not possible or when structural disorders require further evaluation 1
• The biphasic esophagram (combining double-contrast and single-contrast views) detects approximately 95% of lower esophageal rings and peptic strictures, sometimes revealing abnormalities missed by endoscopy 1

When to Proceed to Manometry

• Manometry is indicated to establish the diagnosis of dysphagia when mechanical obstruction cannot be found, particularly when achalasia is suspected 1
• Manometry is essential for preoperative assessment before antireflux surgery if there is any question of an alternative diagnosis, especially achalasia 1
• Do not use manometry to diagnose gastroesophageal reflux disease or as the initial test for chest pain due to low specificity 1

High-Resolution Manometry: The Gold Standard

Diagnostic Superiority

• HRM has 98% sensitivity and 96% specificity for detecting achalasia, compared to standard manometry's 52% sensitivity 1
• HRM enables classification of achalasia into three subtypes with prognostic value: Type I (non-compression/dilated), Type II (pan-esophageal compression), and Type III (spasm/vigorous achalasia) 1
• HRM interpretation is significantly more accurate and faster, particularly for assessing aperistalsis, hypomotility, and lower esophageal sphincter relaxation 2

Enhanced Testing Protocols

• Adjunctive testing during HRM using larger water volumes, solid/viscous swallows, or test meals can unmask pathology not seen with standard water swallows 1, 2
• A standardized test meal doubled the diagnostic yield of major motor disorders compared to water swallows alone and changed clinical diagnosis in 39% of patients 1
• Solid swallows help identify peristaltic reserve in patients with hypotensive or absent peristalsis on water swallows, thus excluding major motor disorders 1

Treatment Based on Specific Diagnosis

Achalasia Management

Type II achalasia has the best response to any therapy (botulinum toxin, pneumatic dilatation, or myotomy), while Type III has the poorest response 1

• Per-oral endoscopic myotomy (POEM) is highly effective for achalasia with success rates >90% 3
• For Type III achalasia, myotomy should extend proximally to cover the extent of esophageal body spasm, not just the lower esophageal sphincter 3
• POEM should be performed by experienced physicians in high-volume centers, as 20-40 procedures are needed to achieve competence 4
• Post-POEM patients have high risk of reflux esophagitis requiring potential indefinite PPI therapy and/or surveillance endoscopy 4

Non-Achalasia Spastic Disorders

• Smooth muscle relaxants, neuromodulators (low-dose antidepressants), and endoscopic botulinum toxin injections are effective for esophageal spasms 4, 3
• Proton pump inhibitors are recommended as initial therapy when symptoms overlap with GERD 4
• Cognitive behavioral therapy, esophageal-directed hypnotherapy, and diaphragmatic breathing can be beneficial for patients with hypervigilance or hypersensitivity 4, 3

Esophagogastric Junction Outflow Obstruction (EGJOO)

• Comprehensive evaluation with symptom correlation is mandatory before intervention 3
• POEM should only be considered case-by-case after less invasive approaches have been exhausted 3
• Long-term success rates for POEM in EGJOO (80-85%) are somewhat lower compared to classic achalasia subtypes 3

Critical Pitfalls to Avoid

Common Diagnostic Errors

• Failing to perform endoscopy with biopsies before manometry risks missing eosinophilic esophagitis, which requires different management than motility disorders 4, 2
• Not using adjunctive testing (solid swallows, test meals) during HRM can miss clinically significant dysfunction 2
• Overlooking electrolyte abnormalities (particularly magnesium and potassium) which can affect esophageal motility 3, 2

Treatment Considerations

• Minor motor disorders (ineffective esophageal motility, fragmented peristalsis) identified on water swallows alone are of uncertain clinical significance, as 70% of patients are asymptomatic at 5-year follow-up 1
• Symptoms may not correlate with physiological improvement post-treatment, requiring both symptom assessment and objective testing during follow-up 3
• Failure to identify and treat concurrent GERD may lead to persistent symptoms despite appropriate therapy for esophageal spasm 4

Special Populations

Autoimmune and Connective Tissue Diseases

• Scleroderma frequently shows absent contractility with low amplitude lower esophageal sphincter on manometry 1
• There is growing evidence of association between eosinophilic diseases and achalasia, with relative risk of EoE being 32.9 in achalasia patients 1
• Consider eradication of eosinophilic infiltration if clinical suspicion is high for comorbid EoE, as this may improve esophageal function 1