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Idiopathic achalasia

Orpha number ORPHA930
Synonym(s) Primary achalasia
Prevalence 1-5 / 10 000
Inheritance -
Age of onset Adulthood
ICD-10
  • K22.0
OMIM
UMLS
  • C0859976
MeSH
  • C536011
MedDRA
  • 10036669
SNOMED CT -

Summary

Idiopathic achalasia is a primary esophageal motor disorder characterised by esophageal aperistalsis and an absence of lower esophageal sphincter (LES) relaxation in response to deglutition. It is a rare disease with an annual incidence of approximately 1/100,000 and a prevalence rate of 1/10,000. The disease can occur at any age, with a similar rate in men and women, but is usually diagnosed between 25 and 60 years. It is characterized predominantly by dysphagia to solids and liquids, bland regurgitation, and chest pain. Weight loss (usually between 5 to 10 kg) is present in most, but not all patients. Heartburn occurs in 27%-42% of achalasia patients. Ætiology is unknown. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant ætiologic factor. Association of achalasia with viral infections and auto-antibodies against myenteric plexus has been reported, but the causal relationship remains unclear. The diagnosis is based on history of the disease, radiography (barium esophagogram), and esophageal motility testing (esophageal manometry). Endoscopic examination is important to rule out malignancy as the cause of achalasia. Treatment is strictly palliative. Current medical and surgical therapeutic options (pneumatic dilation, surgical myotomy, and pharmacologic agents) aim at reducing the LES pressure and facilitating esophageal emptying by gravity and hydrostatic pressure of retained food and liquids. Although it cannot be permanently cured, excellent palliation is available in over 90% of patients.

Expert reviewer(s)

  • Dr F FARROKHI
  • Pr Michael F VAEZI

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Detailed information

Review article
  • EN (2007)
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