NORD gratefully acknowledges the Martin Mueller IV Achalasia Awareness Foundation and Eric S. Hungness, MD, Associate Professor of Surgery, S.David Stulberg Research Professor, Northwestern Medicine and Feinberg School of Medicine, for assistance in the preparation of this report.
Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is characterized by impaired ability to push food down toward the stomach (peristalsis), failure of the ring-shaped muscle at the bottom of the esophagus, the lower esophageal sphincter (LES), to relax. It is the contraction and relaxation of the sphincter that moves food through the tube.
The symptoms of achalasia typically appear gradually. Most people with this disorder experience an impairment in the ability to swallow (dysphagia) as a major and early symptom. There may also be mild chest pain that comes and goes. Some affected individuals experience pain that is very intense.
Retention of saliva and ingested food in the esophagus may often cause regurgitation of these contents; in addition, such contents may also be propelled into the lungs during breathing (tracheobronchial aspiration). Other symptoms of this disorder may include a cough during the night and significant weight loss, because of difficulty in swallowing, in cases that remain untreated. Dry eyes (keratoconjunctivitis sicca) and dry mouth (xerostomia) are not unusual in patients with achalasia.
The aspiration of saliva and food contents by people with achalasia may cause pneumonia, other pulmonary infections, or even death. The incidence of esophageal cancer is significantly increased in patients with achalasia.
The exact cause of achalasia is not known. Some clinical researchers suspect that the condition may be caused by the degeneration of a group of nerves located in the chest (Auerbach’s plexus). It is believed that there may be a rare, inherited form of achalasia, but this is not yet well understood at this time.
Achalasia is a rare disorder that typically affects adults between the ages of 25 and 60 years. However, this disorder may occur at any age, including during childhood. Achalasia affects males and females in equal numbers except in cases that appear to reflect an inherited form. In those cases, it appears that males are twice as likely as females to be diagnosed with this disorder.
X-ray examination (radiology) is frequently useful in the diagnosis of achalasia. Radiological examination, especially with the use of barium, may show enlargement (dilation) of the esophagus and the retention of food and secretions within the esophagus. Devices that measure fluid pressure (manometers) within the esophagus are used to confirm the diagnosis of achalasia.
The treatment of achalasia is aimed at removing obstructions caused by the failure of the lower esophageal sphincter muscle to relax. This may be done with the administration of drugs, expanding the cross-section (manual dilation) of the sphincter muscle, or through surgery.
The drug isosorbide, (a long-acting nitrate) or nifedipine (a calcium channel blocker) may provide some relief for people with achalasia.
Approximately 70 percent of cases of achalasia may be treated effectively by the enlargement of the lower esophageal sphincter muscle through a procedure known as pneumatic balloon dilation. In many people, repeated dilations may be necessary to obtain improvement of symptoms.
Surgical treatments of achalasia may be effective in approximately 85-90 percent of cases. During these procedures, the muscle fibers in the lower esophageal sphincter are cut (laparoscopic Heller myotomy or peroral endoscopic myotomy). About 15 percent of people with achalasia experience the symptoms of gastroesophageal reflux after this surgical procedure.
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