Rare disease>Achalasia
Achalasia or acalasia is a failure of a ring of muscle (as a sphincter) to relax (completely).
Esophageal achalasia, also called simply achalasia, is a neuromuscular disorder of the esophagus characterized by the reduced ability to move food down the esophagus (peristalsis). In addition, the inability of the cardia ( also called lower esophageal sphincter)- to relax in response to swallowing (there is increased LES pressure- spasms).
Synonyms : achalasia cardiae, cardiospasm, dyssynergia esophagus, esophageal aperistalsis.
ICD code : 530.0
Due to the similarity of symptoms, achalasia can be misdiagnosed as other disorders, such as gastroesophageal reflux disease (GERD) and Chagas disease
- X-ray with a barium swallow or esophagography . Shows narrowing at the level of the gastroesophageal junction ("bird beak"), and various degrees of megaesophagus.
- Endoscopy, which provides a view from within the esophagus.
- 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 and new Expectations
- Balloon (pneumatic) dilation. The muscle fibers will be stretched. Gastroesophageal reflux (GERD) occurs after dilatation in 25% to 35% of patients. Is a risk to later Heller myotomy.
- Medication:
- Intra-sphincteric injection of botulinum toxin (or botox), to paralyze cardia 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.
- Heller myotomy laparoscopic surgery.
- Transplant and artificial cardia.
See also : endoscopy, esophageal motility disorder.