Rare disease>Achalasia
Achalasia or acalasia is a failure of a ring of muscle (as a
sphincter) to relax (completely).
The
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. A thin tube will be passed through the patientīs into the stomach, which measures pressure of peristalsis and LES resting pressure.
- CT scan, which provides further visual evidence.
- Gastroesophageal reflux disease-GERD or heartburn.
- Barret esophagus or Barret mucosa: in a 10% of the patients.
- There is two kinds of esophageal cancer: carcinom[?] and adenocarcinom[?].There are predisposing conditions that, if present for a long time, may lead to esophagus adenocarcinom cancer, like achalasia (upto a 5% of Barrett esophagus lead to esophagus adenocarcinom).
- 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 laparoscopic surgery.
- Transplant and artificial cardia.
See also : endoscopy, esophageal motility disorder.