achalasia

see also:

• dysphagia

• 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:
  • dysphagia
  • 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