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  • idiopathic achalasia is a rare condition characterized by a failure of the lower oesophageal sphincter to relax due to a loss of neurons in the myenteric plexus
  • it is appears it may be an auto-immune condition affecting neurons of the oesophagus
  • it results in a chronically grossly distended oesophagus (megaesophagus) causing:
    • regurgitation
    • vomiting
    • nocturnal cough
    • chest pain
    • weight loss
  • in 2014, genomic studies revealed 33 SNPs in the HLA-DQ MHC region on chromosome 6 and an eight-residue insertion at position 227–234 in the cytoplasmic tail of HLA-DQβ1 were markers of susceptibility in patients with achalasia further strengthening the auto-immune hypothesis 1)
  • may be associated with eosinophilic oesophagitis
achalasia.txt · Last modified: 2019/08/09 01:15 (external edit)