Achalasia – Achalasia is a rare autoimmune disease in which the immune system mistakenly attacks 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.
Symptoms of the following disorders can be similar to those of achalasia. Comparisons may be useful for a differential diagnosis:
The symptoms of esophageal cancer resemble those associated with achalasia. Esophageal cancer may begin at almost any point in the tube. Small cancers may be asymptomatic or may be present without symptoms. As the tumor grows, the first sign may be difficulty in swallowing and/or pain upon swallowing and/or feeling as if food were stuck behind the breastbone. Difficulty in swallowing may be accompanied by indigestion, heartburn and choking. Weight loss is not uncommon.
Swallowing disorders come in a variety of forms. Some are the result of disturbances of the brain such as Parkinson’s disease, multiple sclerosis or amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease). Others are the result of malfunctioning of parts of the throat involved in swallowing. For example, the pharynx may malfunction after a stroke.
+ For mother: plaquenil
+ IVIG infusions