Achalasia is a relatively rare disorder of the smooth muscle of the esophagus. The esophagus is a muscular tube that carries food and liquids from the mouth to the stomach. Achalasia makes it difficult for food and liquid to pass into the stomach from the esophagus.

Causes

At the bottom of the esophagus where it meets the stomach is a muscle called the lower esophageal sphincter (LES). When not swallowing, the LES remains closed to keep food, liquid, and stomach acid from moving back into the esophageal tube. When swallowing, nerve signals tell muscles to contract to push food down the esophagus (an action called peristalsis), and allow the LES to open.

In people with achalasia, the nerve cells in the lower esophageal tube and the LES do not work correctly. This results in:

• Uncoordinated peristaltic (muscular) activity

• Failure of the LES to open completely

While achalasia is associated with the loss of nerve cells in the esophagus, the cause of this process is unknown.

Risk Factors

A risk factor is something that increases your chances of getting a disease or condition. Because the exact cause of achalasia is unknown, risk factors are unknown.

Symptoms

Symptoms of achalasia can occur between the ages of 25 and 60. Symptoms rarely develop in children. Symptoms tend to be mild at first, and then grow worse over months or years. The main symptom is difficulty swallowing solids and, as the disorder progresses, liquids. As many as 70-97% of patients with achalasia have difficulty swallowing both solids and liquids.

Other symptoms may include:

• Discomfort or pain in the chest (under the breastbone, especially after meals)

• Coughing, especially when lying down

• Heartburn

• Weight loss (as the disorder progresses)

• Vomiting or regurgitating food or liquids; in some people this occurs during sleep. This can result in inhalation of food particles or liquid, which can lead to aspiration pneumonia and other respiratory infections.

Diagnosis

The doctor will ask about your symptoms and medical history and perform a physical exam. Tests may include:

• Manometry – a tube is inserted down the throat to test the pressure in the esophagus and the stomach when swallowing

• Esophagram – x-rays are taken of the esophagus while you swallow barium (a thick liquid that lights up on x-rays)

• Upper Gastrointestinal Endoscopy (Esophagoscopy) – the esophagus is viewed directly through a fiberoptic tube to look for other causes of the symptoms

Treatment

The goal of treatment is to make it easier for the LES to open. Treatment may include:

Pneumatic dilation – this treatment stretches the LES muscle. A thin tube is inserted into the throat. At the end of this tube is an uninflated balloon. Once the tube reaches the point of the LES muscle, the balloon is inflated. Pneumatic dilation has a high success rate. It is the primary treatment in most patients, although the procedure may need to be repeated.

Botulinum toxin – tiny amounts of botulinum toxin, type A, are injected into the LES. Botulinum causes the LES to relax, which makes it easier to open. Since the effect is temporary, repeat injections are almost always needed, but the response decreases with successive injections.

Surgery – small incisions are made in the LES to help it to relax. This is called Heller cardiomyotomy surgery. This can usually be performed via laparoscopy, making it a relatively minor surgical procedure. Because the LES is partially cut, about 15% of patients experience gastroesophageal reflux symptoms (i.e., acid reflux) after this surgery.

Medication – in mild cases, certain medications may help relieve symptoms temporarily. Drugs that reduce LES pressure include:

• Nifedipine

• Nitroglycerin

Prevention

There are no guidelines for the prevention of achalasia because the cause is usually not known.

RESOURCES:

American Academy of Family Physicians
http://www.aafp.org

American College of Gastroenterology
http://www.acg.gi.org

American Gastroenterological Association
http://www.gastro.org

References:

American Gastroenterological Association website. Available at: http://www.gastro.org/. Accessed October 7, 2005.

Beers MH. The Merck Manual of Medical Information, 2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003.

Health Encyclopedia: Achalasia. Medical University of South Carolina website. Available at: http://www.muschealth.com/cds/HealthEncy.aspx?id=000267&category=Disease. Accessed October 7, 2005.

Medical Encyclopedia: Achalasia. Medline Plus website. Avaiable at: http://www.nlm.nih.gov/medlineplus/ency/article/000267.htm. Accessed October 7, 2005.

Vaezi MF, Richter, JE, for the American College of Gastroenterology Practice Parameter Committee. Diagnosis and management of achalasia. The American Journal of Gastroenterology. 1999;94:3406-3412.