Achalasia

Achalasia is a motility failure of the esophagus. It is a rare disorder which can have mild or severe manifestation. The esophagus is a hollow body which follows the pharynx and leads to the stomach. Esophageal wall has a thick muscular layer. Mutually coordinated contractions of the muscle cells in the wall of the esophagus are controlled via local ganglion cells. Correct function allows the food to be transported towards the stomach. The border between esophagus and stomach (gastroesophageal junction) is "equipped" with lower esophageal sphincter (circular thickened muscle). In the process of food digestion this sphincter opens (again thanks to local retinal ganglion cells) and allows the food and fluids to fall into the stomach to subsequent digestion.

 

Achalasia is a condition of progressive paralysis of the esophageal wall muscles and incapability of lower esophageal sphincter to relax and open.

 

Achalasia
Diagram - Severe achalasia with narrowed lower esophageal sphincter and accumulated food in the distended esophagus

 

Causes

The causes of achalasia are not known. For some reason the nerve ganglion cell in the wall of the esophagus begin to disappear and that ruins the muscle layer innervation damaging the transport function of esophagus.

Manifestations

The manifestation of the disease occurs gradually. The principal symptom is dysphagia (difficult swallowing). The patient has initially difficulty of swallowing large bites of solid food, feels chest pain during meals. It often helps to drink liquids, because they pass through the patient’s esophagus better and can take solid food.

 

Another symptom is a frequent cough which typically occurs at night and recurrent lower respiratory tract infections (recurrent pneumonias). It is caused by frequent leak of digested food into the airways. The airways are protected by laryngeal flap but stagnating food in the esophagus deepens the risk of its inspiration.

Diagnosis

It is important to listen to the patient's complaints of trouble by swallowing solid food and other symptoms listed above. As it is non-invasive, we should make an X-ray examination of food passage in the esophagus (The patient swallows a contrast substance and we look how it moves through the esophagus. It shows its motility and the shape of esophageal lumen). Endoscopic examination (upper GI endoscopy) is important to exclude an esophageal tumor or inflammation which could have very similar manifestation as achalasia.

 

The most precise examination is called esophageal manometry. A special wire is inserted into the esophagus which measures pressure in various parts of the esophageal lumen. Typical finding in esophageal manometry is lowered pressure in both esophageal upper and lower part but in contrast a high pressure in lower esophageal sphincter.

Prevention

It is not possible. However if one finds any problems with swallowing he or she should seek a doctor immediately. In addition increased esophageal cancer risk is connected with long-term achalasia and it can mimic achalasia's manifestations (typically by a man around 50 years of age). The growing tumor mass may oppress the esophagus and cause similar symptoms. Patients with achalasia of the esophagus should be checked regularly endoscopically (gastroscopy) to find any suspicious mass – esophageal carcinoma in early stage.

Treatment

It is advisable to make the patient eat less solid food (mashed, crushed and milled diet) and drink water during the meal. In addition some drugs are used to assist the sphincter muscle to relax.

 

The lower esophageal sphincter can be endoscopically dilated by a special balloon or it can be surgically cut open. These methods of course cause insufficiency of the lower esophageal sphincter which could lead to return of chyme and gastric acids from stomach back to esophagus with inflamation and heartburn (uncomfortable burning chest pain).

 

Another option is the application of botulinum toxin into the lower esophageal sphincter. Botulinum toxin causes muscle relaxation and so it relaxes the sphincter.