Achalasia

For further information, see CMDT Part 15-20: Esophageal Motility Disorders

Essentials of Diagnosis

• Gradual, progressive dysphagia for solids and liquids

• Regurgitation of undigested food

• Barium esophagogram shows "bird's beak" distal esophagus

• Esophageal manometry confirms diagnosis

General Considerations

• Idiopathic motility disorder characterized by loss of peristalsis in the distal two-thirds (smooth muscle) of the esophagus and impaired relaxation of the lower esophageal sphincter

• Cause unknown

• Type III is a spastic variant with less favorable treatment outcomes (66%) than types I (81%) or II (96%)

Demographics

• Increased incidence with advancing age

• Can be seen in persons as young as 25 years

Symptoms and Signs

• Gradual onset of dysphagia for solid foods and, in the majority, liquids also

• Symptoms persist for months to years

• Substernal chest pain, discomfort, or fullness

• Regurgitation of undigested food

• Nocturnal regurgitation

• Coughing or aspiration

• Weight loss is common

• Physical examination unhelpful

Differential Diagnosis

• Chagas disease

• Primary or metastatic tumors at the gastroesophageal junction

• Diffuse esophageal spasm

• Scleroderma esophagus

• Peptic stricture

Imaging Studies

• Chest radiographs: air-fluid level in an enlarged, fluid-filled esophagus

• Barium esophagography

  • Esophageal dilation

  • Loss of esophageal peristalsis

  • Poor esophageal emptying

  • A smooth, symmetric "bird's beak" tapering of the distal esophagus

  • Five minutes after ingestion of 8 oz of barium, a column height of > 2 cm has a sensitivity and specificity of > 85% in differentiating achalasia from other causes of dysphagia

Diagnostic Procedures

• Endoscopy to exclude a distal stricture or carcinoma

• Esophageal manometry confirms the diagnosis; characteristic features include

  • Complete absence of normal peristalsis

  • Incomplete lower esophageal sphincteric relaxation with swallowing

Medications

• Calcium channel blockers (nifedipine) may provide temporary symptomatic improvement for some esophageal disorders

Surgery

• Modified Heller cardiomyotomy of the lower esophageal sphincter and cardia

  • Performed by a laparoscopic approach and preferred to an open surgical approach

  • Results in good to excellent symptomatic improvement in over 90% of patients

  • Because gastroesophageal reflux develops in up to 20% of patients after myotomy, most surgeons also perform an antireflux procedure (fundoplication)

  • All patients are prescribed a once-daily proton pump inhibitor

  • Symptoms recur following cardiomyotomy in > 25% within 10 years but usually respond to pneumatic dilation

  • Pneumatic dilation may be less effective in young males (age < 45 years), thus surgical myotomy may be preferred for them

  • Surgical myotomy may also be preferred for patients with the type III variant

• Per-oral endoscopic myotomy (POEM)

  • Success rates of over 90% are reported, including in patients with type III achalasia

  • Long-term proton pump inhibitor therapy is required in many patients with gastroesophageal reflux because a fundoplication is not performed

  • In expert centers, POEM may be the preferred treatment modality for type III achalasia (where a longer myotomy of the distal esophagus is indicated) and an appropriate option in patients with types I and II achalasia who do not wish to undergo laparoscopic surgery

• Complete esophagectomy or percutaneous gastrostomy may be required in patients with megaesophagus, in whom dilation and myotomy are less effective

Therapeutic Procedures

• Botulinum toxin injection

  • Endoscopically guided injection of botulinum toxin directly into the lower esophageal sphincter results in improvement in 65–85%

  • Symptom relapse occurs in > 50% within 6–9 months

  • May cause submucosal scarring that may make subsequent surgical myotomy more difficult

• 75% of initial responders to botulinum toxin injection who relapse improve with repeated injections

• Pneumatic dilation; goal is to disrupt lower esophageal sphincter

  • About 90% of patients experience good to excellent relief of dysphagia after 1–3 sessions

  • Symptoms recur in up to 35% within 10 years but usually respond to repeated dilation

Follow-Up

• No follow-up is necessary unless symptoms recur

Complications

• Perforations occur in < 3% of pneumatic dilations, may require operative repair

When to Refer

• All patients with achalasia should be evaluated by a gastrointestinal specialist