Achalasia: A Disorder of the Esophagus

What is achalasia?

Achalasia is a rare disorder in which your esophagus is unable to move food and liquids down into your stomach. Your esophagus is the muscular tube that transports food from your mouth to your stomach. At the area where your esophagus meets your stomach is a ring of muscle called the lower esophageal sphincter (LES). This muscle relaxes (opens) to allow food to enter your stomach and contracts (tightens to close) to prevent stomach content from backing up into your esophagus. If you have achalasia, the LES doesn’t relax, which prevents food from moving into your stomach.

Who gets achalasia?

Achalasia develops in about 1 in every 100,000 people in the U.S. each year. It is typically diagnosed in adults between the ages of 25 and 60, but can occur in children as well (less than 5% of cases are in children under age 16). No particular race or ethnic group is more affected than others, and the condition does not run in families (except possibly in a rare form of the disorder). Men and women are equally affected.

Is achalasia serious?

Yes, it can be, especially if it goes untreated. If you have achalasia, you’ll gradually experience increased trouble eating solid foods and drinking liquids. Achalasia can cause considerable weight loss and malnutrition. People with achalasia also have a small increased risk of developing esophageal cancer, particularly if the condition has been present for a long time. Your healthcare provider may recommend regular screenings of your esophagus to catch cancer early if it were to develop.

What causes achalasia?

Why your esophageal muscles fail to contract and relax normally is unknown. One theory is that achalasia is an autoimmune disease (your body attacks itself) that is triggered by a virus. Your immune system attacks the nerve cells in the muscle layers of the walls of your esophagus and at the LES. Your nerve cells, which control muscle function, slowly degenerate for reasons that are not currently understood. This results in excessive contractions in the LES. If you have achalasia, the LES fails to relax and food and liquids can’t pass through your esophagus into your stomach.

A rare form of achalasia may be inherited. More research is needed.

What are the symptoms of achalasia?

Achalasia symptoms develop slowly, with symptoms lasting for months or years. Symptoms include:

• Trouble swallowing (dysphagia). This is the most common early symptom.
• Regurgitation of undigested food.
• Chest pain that comes and goes; pain can be severe.
• Heartburn.
• Cough at night
• Weight loss/malnutrition from difficulty eating. This is a late symptom.
• Hiccups, difficulty belching (less common symptoms)

What are the complications of achalasia?

Some complications of achalasia are the result of food backing up (regurgitating) into your esophagus and then drawn into (aspirated) your trachea (windpipe), which leads to your lungs. These complications include:

• Pneumonia.
• Lung infections (pulmonary infections).

Other complications include:

• Esophageal cancer. Having achalasia increases your risk of this cancer.

How is achalasia diagnosed?

Three tests are commonly used to diagnose achalasia:

• Barium swallow: For this test, you’ll swallow a barium preparation (liquid or other form) and its movement through your esophagus is evaluated using X-rays. The barium swallow will show a narrowing of the esophagus at the LES.
• Upper endoscopy: In this test, a flexible, narrow tube with a camera on it – called an endoscope – is passed down your esophagus. The camera projects images of the inside of your esophagus onto a screen for evaluation. This test helps rule out cancerous (malignant) lesions as well as assess for achalasia.
• Manometry: This test measures the timing and strength of your esophageal muscle contractions and relaxation of the lower esophageal sphincter (LES). Failure of the LES to relax in response to swallowing and lack of muscle contractions along the walls of the esophagus is a positive test for achalasia. This is the “gold standard” test for diagnosing achalasia.

How is achalasia treated?

Several treatments are available for achalasia including nonsurgical options (balloon dilation, medications, and botulinum toxin injection) and surgical options. The goal of treatment is to relieve your symptoms by relaxing your lower esophageal sphincter (LES).

Your healthcare provider will discuss these options so you both can decide the best treatment for you based on the severity of your condition and your preferences.

Minimally Invasive Surgery

The surgery used to treat achalasia is called laparoscopic esophagomyotomy or laparoscopic Heller myotomy. In this minimally invasive surgery, a thin, telescopic-like instrument called an endoscope is inserted through a small incision. The endoscope is connected to a tiny video camera – smaller than a dime –that projects a view of the operative site onto video monitors located in the operating room. In this operation, the muscle fibers of the LES are cut. The addition of another procedure called a partial fundoplication helps prevent gastroesophageal reflux, a side effect of the Heller myotomy procedure.

Peroral endoscopic myotomy (POEM) is a minimally invasive alternative to laparascopic Heller myotomy. In this procedure, muscles on the side of the esophagus, the LES and the upper part of the stomach are cut with a knife. The cuts in these areas loosen the muscles, allowing the esophagus to empty like it normally should, passing food down into your stomach.

Balloon dilation

In this non-surgical procedure, you’ll be put under light sedation while a specifically designed balloon is inserted through the LES and then inflated. The procedure relaxes the muscle sphincter, which allows food to enter your stomach. Balloon dilation is usually the first treatment option in people in whom surgery fails.

You may have to undergo several dilation treatments to relieve your symptoms, and every few years to maintain relief.

Medication

If you aren’t a candidate for balloon dilation or surgery or choose not to undergo these procedures, you may benefit from Botox® (botulinum toxin) injections. Botox is a protein made by the bacteria that cause botulism. When injected into muscles in very small quantities, Botox can relax spastic muscles. It works by blocking the signal from the nerves to the sphincter muscles that tell them to contract. Injections need to be repeated to maintain symptom control.

Other medication treatments include nifedipine (Procardia XL®, Adalat CC®) or isosorbide (Imdur®, Monoket®). These medications relax the spastic esophageal muscles by lowering LES pressure. These treatments are less effective than surgery or balloon dilation and provide only short-term relief of your symptoms.

Esophagectomy

Removal of your esophagus is a last resort treatment.

What are the complications of treatments for achalasia?

Complications of achalasia treatments include:

• Creation of a hole in the esophagus.
• Lack of success and return of achalasia symptoms.
• Gastroesophageal reflux disease.
• Bloating.

What post-treatment follow-up is needed?

Long-term follow-up is needed regardless of which treatment you receive. This is because treatments are palliative – meaning they relieve symptoms – and do not cure achalasia or halt its progression. Symptoms can return. Your healthcare provider will want to see if your esophagus is adequately allowing food to enter your stomach and to check for gastroesophageal reflux, which would need to be treated. Your doctor will also want to monitor you to be sure cancer has not developed.

What outcome can I expect from the various treatment options?

• Balloon dilation improves symptoms in 50% to 93% of people with achalasia. Keep in mind that the procedure may need to be repeated to maintain symptom improvement. Repeated dilations increase the risk of causing a hole (perforation) in your esophagus.
• Minimally invasive surgery/laparoscopic Heller myotomy is effective in 76% to 100% of people with achalasia. Keep in mind that up to 15% of people experience gastroesophageal reflux symptoms after surgery.
• Botox injection successfully relaxes spastic esophageal sphincter muscles in up to 35% of people with achalasia. The injections must be repeated every six to 12 months to maintain symptom relief.
• Medications, such as nifedipine, improve symptoms in 0% to 75% of people with achalasia; isosorbide improves symptoms in 53% to 87%.

How can I live my best life if I have been diagnosed with and treated for achalasia?

First, you’ll need to understand that achalasia is a lifelong condition. You’ll also need to have realistic expectations about the outcomes of the different treatment procedures. No treatment cures achalasia. Ask your healthcare provider to discuss all treatment options and their success rate for controlling symptoms, the need for repeat procedures and frequency, and the risks and benefits of each procedure.

Helpful lifestyle changes you can make include:

• Cut your food into small, bite-size pieces and eat in an upright position. This will allow gravity to help move food through your esophagus.
• Never lay flat. This will increase your risk of aspirating food into your lungs. Sleep with your head elevated.
• Avoid eating solid foods at bedtime.