Achalasia

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 radiograph: 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

• High-resolution esophageal manometry confirms the diagnosis; characteristic features include

  • Absence of normal peristalsis

  • Impaired esophagogastric junction relaxation with swallowing

• Several effective treatment options are available, all of which promote improved esophageal emptying by lowering distal esophageal pressure either through

  • Endoscopic injection with botulinum toxin

  • Disruption of the lower esophageal sphincter (LES) by pneumatic balloon dilation

  • Cardioesophageal myotomy (surgical or endoscopic)

• Botulinum toxin injection

  • Endoscopically guided injection of botulinum toxin directly into the LES results in a marked reduction in LES pressure with initial improvement in symptoms in patients

  • However, symptom relapse occurs in over 50% of patients within 6–9 months and in all patients within 2 years

  • It is inferior to pneumatic dilation therapy and surgery in producing sustained symptomatic relief; this therapy is most appropriate for patients with comorbidities who are poor candidates for more invasive procedures

• Pneumatic dilation

  • Over 80% of patients derive good to excellent relief of dysphagia after one to three sessions of pneumatic dilation of the LES

  • Dilation is less effective in patients who

    • Are younger than age 45

    • Have the type III variant

    • Have a dilated esophagus

• A modified Heller cardiomyotomy of the LES and cardia

  • Results in symptomatic improvement in approximately 90% of patients

  • Because gastroesophageal reflux develops in up to 20% of patients after myotomy, most surgeons also perform an antireflux procedure (fundoplication), and most patients are prescribed a once-daily proton pump inhibitor

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

• Per oral endoscopic myotomy (POEM)

  • Increasingly supplanting pneumatic dilation and surgical Heller myotomy as a preferred first-line treatment option

  • May be the preferred treatment modality for type III achalasia (where a longer myotomy of the distal esophagus is indicated)

• Refractory achalasia: Complete esophagectomy or percutaneous gastrostomy is required in the 1% of patients in whom massive dilation of the esophagus (megaesophagus) develops despite dilation or myotomy

Follow-Up

• No follow-up is necessary unless symptoms recur

Complications

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

When to Refer

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