Achalasia

What Is It?

Achalasia is an uncommon disorder of the smooth muscle of the esophagus, the muscular tube that carries food from the mouth to the stomach. Normally, coordinated contractions of this smooth muscle, known as peristaltic waves, move food through the esophagus.

Between the esophagus and stomach is a special muscle called the esophageal sphincter (LES). This muscle surrounds the esophagus to keep it closed and prevent food and acid from splashing back up into the esophagus from the stomach. When you swallow, this sphincter relaxes and opens to allow food to pass into the stomach. At the same time, nerves coordinate the contractions of the esophagus so that food is moved when the sphincter opens. In achalasia, the nerve cells in the lower two-thirds of the esophagus and the sphincter are abnormal. This causes uncoordinated or weak peristaltic waves and causes the sphincter to remain closed, making it difficult for food to pass from the esophagus into the stomach.

The cause of achalasia is unknown. Studies show that the nerves that control the muscle contractions of the esophagus have deteriorated. Why this happens is unclear. There have been theories that a viral infection leads to nerve damage but these theories have not been proven. Another possibility is that the body's immune system attacks and destroys the nerves.

Approximately 2,000 new cases of achalasia are diagnosed each year in the United States.

Other conditions besides achalasia can cause the esophagus to function improperly, including diffuse esophageal spasm, polymyositis or dermatomyositis,hypothyroidism and scleroderma esophagus.

Symptoms

Most people with achalasia develop symptoms between the ages of 25 and 60, but the condition can occur in children. It does not run in families. The symptoms come on gradually and may take years to progress. Symptoms can include:

• Difficulty swallowing solid food (swallowing liquids is not affected in the early stages)
• Regurgitation or vomiting of undigested food
• Chest pain, discomfort or fullness under the breastbone, especially after meals
• Coughing, especially at night or when lying down
• Difficulty swallowing solids and liquids (late in the illness)
• Weight loss (late in the illness)

Diagnosis

Esophagography (barium swallow) — You will swallow a thick liquid (barium) that can be seen on an X-ray. The test can show whether the esophagus is enlarged or dilated, and whether the barium is able to empty properly into the stomach. The study is generally painless, although some people experience the same discomfort they may have when swallowing foods or liquids.

Endoscopy— Even if your medical history and the results of the barium swallow indicate you probably have achalasia, endoscopy usually is done to check for cancer, which could be keeping the esophageal sphincter closed, and other diseases such as infectious or inflammatory conditions associated with achalasia. This is an outpatient procedure. You will be sedated mildly as the doctor passes a flexible tube down your esophagus and looks at the lining of the esophagus and stomach. A piece of tissue (biopsy) may be taken to be examined under a microscope. One of the treatments for achalasia, balloon dilation, can be done during endoscopy.

Manometry — Manometry is a key test in diagnosing achalasia. A thin tube will be passed through your nose into your stomach, and pressure in your esophagus and at the sphincter will be recorded while you drink sips of water and the tube is slowly withdrawn. The pattern of pressure measurements can indicate whether a person has achalasia.

Expected Duration

Achalasia generally worsens unless treated. After successful treatment, symptoms may still return 5 to 10 years later and require repeat treatments.

Prevention

Since the cause of achalasia is unknown, there is no way to prevent it.

Treatment

The choice of treatment method will depend on your general condition, your doctor's expertise with various techniques, personal choice and prior treatments. Choices include:

• Pneumatic (balloon) dilation — This is widely thought to be the best non-surgical treatment. In balloon dilation your doctor passes an endoscope, a flexible telescope, into your stomach while you are sedated, and then inflates a balloon at the level of the esophageal sphincter. The muscle fibers will be stretched, relieving the pressure that blocks food from passing easily into the stomach. Between 51% and 93% of people experience relief from their symptoms for several years following dilation. The procedure may have to be repeated, or other treatments also may be needed. The chief risk of balloon dilation is a tear in the esophagus, which occurs in 2% to 3% of patients and requires emergency surgery.
• Surgery (Heller myotomy) — The esophageal sphincter can be opened with surgery, called myotomy. In the past, surgery was done only when balloon dilation was not successful. However, newer surgical techniques have led to improved outcomes with shorter hospital stays and lower risks, so the procedure is being used more often. The procedure can be done laparoscopically, which means telescopic equipment is inserted through small incisions in the abdomen. Most people have good to excellent results. Even with older forms of myotomy, benefits have been observed five years following surgery.
• Botulinum toxin — Tiny amounts of botulinum toxin are injected directly into the esophageal sphincter to paralyze and then relax the sphincter, allowing food to pass readily into the stomach. Botulinum (Botox) is expensive, however, and its effects are relatively short-lived. Only 32% of people receiving botulinum toxin do well 12 months later compared to 70% of those who have pneumatic dilation.
• Other medications — Drugs can be taken to reduce pressure at the esophageal sphincter. They include nifedipine (Adalat, Procardia) and nitrates (isosorbide or nitroglycerin, both sold under several brand names). To be most effective, a tablet is dissolved under the tongue before meals. Improvements with these medications are quite variable and they are seldom used as primary therapy today.

When To Call A Professional

You should call your doctor for an urgent evaluation if you experience any new chest pain, especially if it lasts for longer than 5 or 10 minutes or if you cannot swallow liquids. If you experience unexplained weight loss, nighttime cough or pain, or difficulty in swallowing solid food, make an appointment to see your doctor for an evaluation.

Prognosis

Although there is no known cure for achalasia, several treatments can provide good to excellent relief from symptoms for a number of years. When treatment needs to be repeated, it can be as successful as initial treatment.

Additional Info

American Academy of Family Physicians (AAFP)

11400 Tomahawk Creek Parkway

Leawood, KS 66211-2672

Phone: (913) 906-6000

Toll-Free: (800) 274-2237

E-Mail: email@familydoctor.org

http://www.familydoctor.org/

American College of Gastroenterology (ACG)

P.O. Box 3099

Arlington, VA 22302

http://www.acg.gi.org/

American College of Physicians/American Society of Internal Medicine (ACP/ASIM)

190 N. Independence Mall West

Philadelphia, PA 19106-1572

Phone: (215) 351-2600, ext. 2600

Toll-Free: (800) 523-1546

http://www.acponline.org/

American Gastroenterological Association

4930 Del Ray Ave.

Bethesda, MD 20814

Phone: (301) 654-2055

Fax: (301) 654-5920

http://www.gastro.org/

Society of Thoracic Surgeons

633 N. Saint Clair St.

Suite 2320

Chicago, IL 60611-3658

Phone: (312) 202-5800

Fax: (312) 202-5801

E-Mail: sts@sts.org

http://www.sts.org/