Achalasia

Disease Description (Causes and Symptoms)

• Definition summary: A motility disorder in which food does not pass easily from the esophagus into the stomach due to failure of relaxation of the lower esophageal sphincter (LES) and loss of peristalsis in the distal esophagus (lower two-thirds).

• Causes/pathophysiology:

  • Caused by degeneration and loss of Auerbach (myenteric) ganglion cells, which regulate esophageal muscle contraction. As a result, LES relaxation is incomplete and esophageal peristalsis is lost.
  • Secondary causes: Chagas disease, cancer invasion of the esophagus or tissues around the stomach, radiation therapy, certain medications, or neuropathy.

• Main symptoms:

  • Difficulty swallowing (dysphagia): Both solid and liquid foods may be affected, and symptoms progress gradually.
  • Chest pain, weight loss, belching and regurgitation (a sensation that food remaining in the esophagus comes back up), frequent hiccups, throat discomfort, and odynophagia.
  • Complications include aspiration pneumonia, nutritional deficiencies, esophageal dilation (megaesophagus), and an increased risk of esophageal cancer (approximately 1–5% according to reports).

• Key diagnostic tests:

  • High-resolution esophageal manometry (HRM): Confirmatory test (LES residual pressure, peristaltic pattern, etc.).
  • Esophagography (barium swallow): Used to identify esophageal dilation and a bird-beak-shaped (rounded column-shaped) appearance.
  • Upper gastrointestinal endoscopy (endoscopy): Can exclude other causes (tumors, inflammation) and allow procedures for treatment (botulinum toxin injection, pneumatic dilation, etc.).

Treatment Methods (including standard treatment, medication, procedures/surgery, and lifestyle management) — Precautions for This Disease

• Goal: Reduce LES pressure, improve passage of food, and prevent aspiration and nutritional problems.
• Medication treatment:
  • Used short-term: Oral nitrates (nitrites), calcium channel blockers (e.g., nifedipine)—may alleviate the motility disorder but have limited efficacy and may cause side effects (such as hypotension).
  • Endoscopic injection of botulinum toxin (Botox): Produces a temporary effect by blocking nerve endings in the LES (mainly used in older adults or patients who cannot undergo surgery).
• Nonsurgical procedures:
  • Pneumatic dilation: Mechanically dilates the LES using a balloon under endoscopic guidance. Repeat treatment may be needed if one session is not sufficient.
• Surgical/endoscopic myotomy:
  • Laparoscopic Heller myotomy: Weakens the LES by cutting the muscle layer. Partial fundoplication (anti-reflux surgery) is usually performed at the same time to reduce reflux.
  • POEM (Peroral endoscopic myotomy): A method of cutting the esophageal muscle through an endoscope; recurrence rates are low and recovery is rapid. The occurrence of reflux esophagitis needs to be monitored.
• Complications and precautions:
  • Reflux (acid reflux) may occur after treatment—an acid suppressant (PPI) may be needed.
  • Esophageal perforation is possible after pneumatic dilation or surgery (emergency treatment is required).
  • Symptoms may recur even after treatment (especially after pneumatic dilation or Botox injection)—long-term follow-up is necessary.
  • If untreated, the risk of aspiration pneumonia, severe nutritional deficiencies, esophageal dilation, and esophageal cancer increases.
• Lifestyle management (self-care tips):
  • Take small bites, chew slowly, and drink water with meals to help food pass smoothly.
  • Do not lie down immediately after meals (including elevating the head).
  • Record changes in weight and swallowing difficulty, and immediately report new symptoms such as oral symptoms, vomiting, or chest pain.

Checklist Before an Outpatient Visit (Items to Prepare: Medication List, Previous Test Results, Symptom Change Records, Lifestyle Changes, etc.)

• Bring the following:
  • A list of all current medications (including prescriptions, OTC medications, and supplements), along with the times and doses taken.
  • Copies of previous relevant test results and imaging (endoscopy, esophagography, manometry), if available, are useful.
  • Records of recent weight changes (over the past several months) and the frequency and pattern of swallowing difficulty during meals (whether it affects both solids and liquids).
  • Symptom diary: When swallowing difficulty began, aggravating factors (types of food, posture), and the frequency of chest pain, reflux, and hiccups.
  • History of previous procedures/surgery (Botox injection, pneumatic dilation, myotomy, etc.), including timing and effectiveness.
• Items the medical staff are likely to ask about during the visit:
  • Specific pattern of swallowing difficulty (solids, liquids, or both), weight changes, and respiratory symptoms (cough, fever, sputum).
  • Previous neurological diseases, history of living abroad (areas at risk for Chagas disease), and smoking/alcohol use.

Examples of General Questions to Ask the Doctor

• What are the main benefits and side effects of this medication (or procedure)?
• What is the long-term prognosis of my condition, and how likely is recurrence after treatment?
• What are the advantages and disadvantages of each treatment option (medication/Botox/pneumatic dilation/myotomy), and why is the recommended option suitable for me?
• How is the risk of reflux managed after a procedure (pneumatic dilation, POEM, or Heller)? Will I need an acid suppressant?
• What symptoms should I watch for if complications (perforation, pneumonia, etc.) occur?

Examples of Disease-Specific Questions

• Based on my specific test results (manometry/endoscopy/barium study), which treatment is likely to be most effective and have the lowest risk of recurrence?
• I previously received a botulinum toxin injection (or pneumatic dilation). Should POEM or Heller surgery be considered as the next treatment? What is the expected recovery period, and when can I resume eating?