What is the diagnosis and treatment for a patient with symptoms of Achalasia Cardia, a rare esophageal disorder?

Achalasia Cardia: Diagnosis and Management

Diagnostic Approach

All patients with suspected achalasia must undergo a comprehensive diagnostic evaluation including upper endoscopy, timed barium esophagram, and high-resolution manometry (HRM) to confirm the diagnosis and determine the achalasia subtype, which is critical for treatment selection. 1

Essential Diagnostic Tests

• Upper endoscopy (EGD) is mandatory to identify findings suggestive of poor esophageal clearance and to exclude pseudoachalasia from occult malignancy through careful retroflexed examination of the gastroesophageal junction 1
• Timed barium esophagram confirms outflow obstruction, demonstrates structural changes including esophageal dilation and the characteristic "bird's beak" narrowing at the gastroesophageal junction; administration of a 13-mm barium tablet may elicit additional evidence of obstruction 1
• High-resolution manometry (HRM) remains the gold standard for diagnosis with 98% sensitivity and 96% specificity, and is crucial for defining achalasia subtype according to the Chicago Classification system 2, 1

Chicago Classification Subtypes

The three achalasia subtypes have distinct therapeutic implications 2:

• Type I (Non-compression): Decompensated, dilated esophagus with absent peristalsis and minimal pressurization
• Type II (Pan-esophageal compression): Most common subtype with the best response to all therapies; presumed precursor to Type I 2
• Type III (Spastic): Associated with persistent peristalsis with spasm (previously "vigorous achalasia"); poorest response to conventional therapies but best response to POEM 2

Clinical Presentation

Look for the cardinal symptom triad 3:

• Dysphagia to both solids and liquids (not just solids as in mechanical obstruction)
• Regurgitation of undigested food and saliva, particularly postprandially and during recumbency
• Chest pain from esophageal pressurization and spasm, especially prominent in Type II and Type III
• Weight loss from progressive inability to eat
• Pulmonary symptoms including cough, aspiration, and recurrent chest infections from regurgitation 3

Treatment Algorithm by Subtype

Type III Achalasia (Spastic)

POEM (per-oral endoscopic myotomy) is the definitive preferred treatment for Type III achalasia because it allows unlimited proximal extension of myotomy tailored to the extent of esophageal body spasm, which is critical for optimal outcomes in this subtype. 2, 1

• Calibrate the myotomy length to the spastic segment imaged on HRM or thickened segment on endoscopic ultrasound 2
• Response rates of 92% have been reported 1
• POEM should be performed by experienced physicians in high-volume centers as an estimated 20-40 procedures are needed to achieve competence 2, 1

Type I and Type II Achalasia

For these subtypes, three equally effective options exist with 90% first-year success rates 1:

Pneumatic Dilation (PD):

• Start with a 30 mm balloon in the first session to minimize perforation risk 1
• Effectiveness: 90% at 1 year, 86% at 2 years, 97% at 5 years, and 93% at 10 years with repeat dilations 1
• Choose PD when: Patient prefers less invasive approach with lower upfront morbidity and cost, and accepts the need for repeat procedures over years 2, 1
• Perforation risk is 0-7% (mostly 3-4%) with mortality <1%; most perforations occur during the first dilatation 1
• Women and older patients respond best 4

Laparoscopic Heller Myotomy (LHM) with Partial Fundoplication:

• Overall success rate of 87% 4
• Lower reflux rate compared to POEM and fewer repeat procedures needed compared to PD 1
• Higher upfront cost but more durable single-procedure solution 2
• Young patients, especially men, are the best candidates 4

POEM:

• Highly efficacious in randomized controlled trials versus PD 2
• Choose POEM when: High-volume center with experienced operator is available, and patient accepts higher reflux risk and need for indefinite PPI therapy 1
• Technical advantages include ease of performing longer myotomy, avoidance of vagal nerve injury, and lack of intra-abdominal adhesions 2
• Insufficient data on efficacy for advanced esophageal dilation, sigmoidization, epiphrenic diverticulum, and hiatal hernia 2

Critical Post-Treatment Management

All patients after treatment, particularly POEM, should be considered high risk to develop reflux esophagitis and require proton pump inhibitor (PPI) therapy. 2

• POEM has the highest reflux risk with 10-40% rate of symptomatic GERD or ulcerative esophagitis, with one study showing 58% reflux on pH-metry 2, 1
• Post-POEM patients may require indefinite PPI therapy and surveillance endoscopy 2, 1
• A single dose of antibiotics at the time of POEM may be sufficient for antibiotic prophylaxis 1

Complications to Monitor

Suspect perforation when patients develop pain, breathlessness, fever, or tachycardia after any intervention. 1

Monitor for 1:

• Pulmonary aspiration and chest infections
• Persistent dysphagia
• Weight loss
• Progressive esophageal damage if treatment is delayed 5

Special Populations and Alternative Therapies

Anticoagulation Management:

• Low-risk patients: Discontinue anticoagulants prior to dilatation with preprocedure prothrombin time 1
• High-risk patients: Discontinue oral anticoagulants and transition to intravenous heparin, stopped 4-6 hours before and resumed 4-6 hours after the procedure 1

Botulinum Toxin Injection:

• Reserved for older patients or those with significant comorbidities who are not candidates for definitive treatment 4
• Can be performed under endoscopic ultrasound guidance in patients with contraindications to pneumatic dilation or surgery (e.g., esophageal varices) 6

Critical Diagnostic Pitfalls

• Type I achalasia may have normal integrated relaxation pressure late in disease, leading to missed diagnosis 5
• EGJ outflow obstruction represents incompletely expressed disease that may progress; 12-40% eventually require treatment as achalasia 2, 5
• Many cases of EGJ outflow obstruction resolve spontaneously (20-40%), so image the EGJ with endoscopic ultrasound or CT to rule out mechanical obstruction before treating 2
• Symptoms are typically present for 0.5 to 2.8 years before diagnosis, reflecting the insidious progressive nature 3