Esophageal achalasia is a rare disorder of the esophagus characterized by an inability of the lower esophageal sphincter to relax, resulting in a loss of the normal peristaltic motion. This effect is almost always due to loss of nervous stimulation to the lower esophageal tube. Typical symptoms of the condition include dilated esophagus, difficulty in swallowing, dysphagia, regurgitating food, night-time coughs, and non cardiac chest pains. Affected patients may also show weight loss, heartburn, and frequent hiccups. Complications of the condition include tearing of the esophagus and aspiration of food contents into the lungs causing pneumonia.
Diagnosis of the condition usually involves performing a barium swallow or an endoscopy. The endoscopy is especially important, since it can rule out the presence of other conditions like a peptic stricturte, or cancer. The key diagnostic test, however, is an esophageal manometry, in which a tube, inserted through the nose, measures the pressure in different parts of the esophagus and stomach.
Treatment aims at reducing the pressure at the esophageal sphincter. The most common procedure for achieving this is through a pneumatic or balloon dilatation, in which a balloon placed inside the sphincter is forcefully inflated to stretch the muscles. Other treatment strategies include intrasphincteric injection of botulinum toxin, laproscopic Heller myotomy, and esophagectomy. In all cases, all patients need to be followed up by endoscopy, since there is an increased risk for developing squamous cell and/or adeno carcinoma. Patients are advised to eat slowly with a lot of chewing and drink plenty of water with meals. It is also advisable to avoid food containing tomatoes, citrus fruits, chocolate, mint, alcohol, and caffeine.
Familial cases of esophageal achalasia are very rare. Some of these cases have been found to exist in association with other neuromuscular disorders, like familial dysautonomia or glucocorticoid deficiency. The familial form of the disease has been shown to follow an autosomal recessive pattern of inheritance. However, to date, no specific gene or genetic locus has been identified to be responsible for the condition. In addition, the rarity of familial occurrence seems to support the notion that genetic predisposition in affected individuals probably increases their susceptibility to acquiring achalasia after exposure to common environmental factors that may play a role in the pathogenesis.