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Achalasia overview

Published: July 13, 2009. Updated: January 12, 2016

Achalasia is a neuromuscular disorder of the esophagus characterized by the inability of the lower esophageal sphincter (LES) to relax in response to swallowing resulting in increased LES pressure due to spasm. In addition there is reduced peristalsis (ability to move food down the esophagus).

Causes

Achalasia is a neuromuscular dysfunction of unknown cause.

Signs and symptoms

  • Esophageal dysphagia to both solids and liquids from the beginning (not progressive).
  • Regurgitation of digested food
  • Heartburn
  • Chest pain which increases after eating and may radiate to the back, neck, and arms. Not exertional.
  • Weight loss
  • Coughing, especially at night or when lying down

Diagnosis

Due to the similarity of symptoms, achalasia can be misdiagnosed as other disorders, such as gastroesophageal reflux disease (GERD) and Chagas disease. In addition, tumors of the gastroesophageal junction can mimic achalasia (pseudo-achalasia) and should be excluded by endoscopy and biopsy

X-ray with a barium swallow or esophagography. Shows narrowing at the level of the gastroesophageal junction ("bird beak"), and various degrees of megaesophagus (esophageal dilation).

Endoscopy, which provides a view from within the esophagus and allows exclusion of gastroesophageal junction tumors. Manometry, the key test for establishing the diagnosis. Measures the pressure induced in different parts of the esophagus and stomach during the act of swallowing. CT scan, which provides further visual evidence.

Complications

Gastroesophageal reflux disease-GERD or heartburn. Barrett's esophagus or Barrett's mucosa: in 10% of patients. There are two kinds of esophageal cancer: squamous cell carcinoma and adenocarcinoma. There are predisposing conditions that, if present for a long time, may lead to esophageal adenocarcinoma, like achalasia (in up to 5% of cases, Barrett's esophagus leads to esophageal adenocarcinoma).

Treatment

The best initial treatment is balloon (pneumatic) dilation. The muscle fibers will be stretched. Gastroesophageal reflux (GERD) occurs after dilatation in 25% to 35% of patients. There is a 2% risk of perforation.

A laparoscopic, Heller's myotomy, is needed if both pneumatic dilation and botulinum toxin injections fail. This results in reflux in 20% of patients.

Intra-sphincteric injection of botulinum toxin, to paralyze the LES and prevent spasms. It is transitory and symptoms will return in the majority of patients within a year. Drugs that reduce LES pressure such as nifedipine and nitroglycerin may be useful.


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