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Achalasia

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Achalasia

Achalasia is a rare disorder of the muscle of the esophagus (swallowing tube). It is usually diagnosed in young adults. The term achalasia means “failure to relax”. The inability of the muscle at the lower end of the esophagus (the lower esophageal sphincter) to open and let food pass into the stomach is the dominant cause of achalasia. In addition, the musculature of the lower half of the esophagus does not contract appropriately. These dysfunctional musculature contractions hinder food from reaching the stomach.  The combination of these abnormalities results in food remaining in the esophagus; therefore, the foot does not properly migrate to the stomach. 
 
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The cause of achalasia is unknown. Theories on cause include infection, heredity or an abnormality of the immune system which causes the body, itself, to damage the esophagus. None of these potential causes has been proven.

When the musculature of the lower esophagus is examined under the microscope, inflammation is seen, and a less than normal amounts of nerves that control the musculature are present. It is believed that the nerves which are lacking are those that cause the lower esophageal sphincter to relax. As a result, the sphincter does not relax but remains contracted and narrowed.

The symptoms of achalasia are difficulty swallowing and, occasional chest pain. Regurgitation of food that is trapped in the esophagus can occur, and this can lead to coughing or breathing problems when the regurgitated food enters the throat or lungs.

The diagnosis of achalasia usually is made by an x-ray study called a video-esophagram in which video x-rays of the esophagus are taken after barium is swallowed. The barium fills the esophagus, and the emptying of the barium into the stomach can be observed. In achalasia, the video-esophagram shows that the esophagus is dilated (enlarged or widened), with a characteristic tapered narrowing of the lower end of the esophagus, sometimes likened to a "bird's beak." In addition, the barium stays in the esophagus longer than normal before passing into the stomach.

Another test, esophageal manometry, can demonstrate specifically the abnormalities of muscle function that are characteristic of achalasia, that is, the failure of the muscle to contract with swallowing and the failure of the lower sphincter to relax. For manometry, a thin tube that measures the pressure generated by the contracting esophageal muscle is passed through the nose and into the esophagus. In a patient with achalasia, no wave of pressure due to muscular contraction is seen in the lower half of the esophagus after a swallow, and the pressure within the contracted sphincter does not relax with the swallow. An advantage of manometry is that it can diagnose achalasia early in its course at a time in which the video-esophagram may be normal.

Endoscopy is also a helpful tool in the diagnosis of achalasia. Endoscopy is a procedure in which a flexible tube with a camera on the end is swallowed. The camera provides direct visualization of the inside of the esophagus. Endoscopy is important because it excludes the presence of esophageal cancer, another serious disease of the esophagus that can obstruct the passage of food and dilate the esophagus.

A typical patient with achalasia has symptoms for approximately two years before the diagnosis finally is determined. The frequent delay in diagnosis is due to the mild and vague symptoms in the early stages of the disease that often do not cause the patient to seek medical attention. These symptoms include mild chest discomfort, indigestion, or slight difficulty with swallowing. As the disease progresses, more prominent chest pain, difficulty eating, regurgitation of food, weight loss, and breathing problems appear, which typically lead to testing and diagnosis. 

Complications of achalasia include inflammation of the esophagus (swallowing tube), called esophagitis, which is caused by the irritating food and fluids that collect and remain in the esophagus for prolonged periods of time. Of potential concern is the possibility that there is an increased occurrence of cancer of the esophagus in patients with achalasia. Some physicians feel that effective treatment of achalasia may reduce the risk for cancer, but this has not been proved.

Treatments for achalasia include oral medications, dilation or stretching of the lower esophageal sphincter, and surgery to cut the sphincter. A newer approach involves injection of botulinum toxin (Botox) into the sphincter to loosen the muscle. 

Oral medications that help to relax the lower esophageal sphincter include groups of drugs called nitrates and calcium-channel blockers. Although some patients with achalasia have improvement of symptoms with medications, many experience side-effects of the medications. By themselves, medications taken by mouth are likely to provide only short-term and not long-term relief of the symptoms of achalasia. 

The lower esophageal sphincter also may be treated directly. Dilation of the lower esophageal sphincter is done by passing an endoscope under sedation, and then positioning a balloon within the lower esophageal sphincter. The balloon is inflated, resulting in a stretching of the sphincter. Sometimes more than one session is needed, and but the results can last for years. This procedure is designed to breakdown the thickened muscle fibers of the sphincter, thereby relaxing the lower esophageal sphincter. It can be very effective, but it also carries a risk of potential bleeding or perforation, which is why this procedure is performed with care, using a series of sequentially sized of dilators. 


Another endoscopic technique is the injection of a medication called botulinum toxin (Botox) into the lower sphincter. This medication works by inhibiting the nerves that innervate the lower esophageal sphincter, consequently weakening the musculature of the lower esophagus and causing it to better dilate. The use of Botox is safe, but the effect on the esophagus is temporary, lasting only six months. After that period of time, additional Botox therapy may be necessary. Botox therapy is effective but since the results are not long term, it is usually reserved as a "bridge therapy" while waiting to proceed with a subsequent treatment such as surgery. Additionally, Botox can be used in a patient who has significant medical issues that would make surgery unacceptable, and in this manner, can be very effective if performed every 6 months.

Surgery is the most definitive treatment, but also the most invasive. The surgical procedure for Achalasia is called a Heller Myotomy. In a Heller Myotomy, the lower esophageal sphincter muscle is actually cut, which relieves the high-pressure area and allows the sphincter to open and close more easily Typically, a fundoplication is performed at the same time. A fundoplication is when a wrap is placed around the stomach at the level of the diaphragm. This wrap helps to create a the proper barrier to prevent reflux as a result of the Heller Myotomy. Nowadays, this surgery can be performed laparoscopically, which is less invasive than an open surgery, and the recovery period is much quicker. The results are generally effective long term. A surgeon that specializes in laparoscopic technique is required for this procedure.

  • Achalasia is a rare disease of the muscle of the esophagus.
  • The cause of achalasia is unknown.
  • Common symptoms include difficulty swallowing and chest pain.
  • Achalasia can be diagnosed by x-ray, endoscopy, or esophageal manometry.
  • Achalasia may increase the risk of cancer of the esophagus.
  • Treatments include oral medications, dilation or stretching of the esophagus, surgery, and Botox injection of muscle directly into the esophagus.

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