Achalasia

Overview

Achalasia is a swallowing condition that affects the tube connecting the mouth and the stomach, called the esophagus. Damaged nerves make it hard for the muscles of the esophagus to squeeze food and liquid into the stomach. Food then collects in the esophagus, sometimes fermenting and washing back up into the mouth. This fermented food can taste bitter.

Achalasia is a fairly rare condition. Some people mistake it for gastroesophageal reflux disease (GERD). However, in achalasia, the food is coming from the esophagus. In GERD, the material comes from the stomach.

There's no cure for achalasia. Once the esophagus is damaged, the muscles cannot work properly again. But symptoms can usually be managed with endoscopy, minimally invasive therapy or surgery.

Symptoms

Achalasia symptoms generally appear gradually and get worse over time. Symptoms may include:

Difficulty swallowing, called dysphagia, which may feel like food or drink is stuck in the throat.
Swallowed food or saliva flowing back into the throat.
Heartburn.
Belching.
Chest pain that comes and goes.
Coughing at night.
Pneumonia from getting food in the lungs.
Weight loss.
Vomiting.

Causes

The exact cause of achalasia is poorly understood. Researchers suspect that it may be caused by a loss of nerve cells in the esophagus. There are theories about what causes this, but viral infection or autoimmune responses are possibilities. Very rarely, achalasia may be caused by an inherited genetic disorder or infection.

Risk factors

Risk factors for achalasia include:

Age. Although achalasia can affect people of all ages, it's more common in people between 25 and 60 years of age.
Certain medical conditions. The risk of achalasia is higher in people with allergic disorders, adrenal insufficiency or Allgrove syndrome, a rare autosomal recessive genetic condition.

Diagnosis

Achalasia can be overlooked or misdiagnosed because it has symptoms similar to those of other digestive disorders. To test for achalasia, a healthcare professional is likely to recommend:

Esophageal manometry. This test measures the muscle contractions in the esophagus during swallowing. It also measures how well the lower esophageal sphincter opens during a swallow. This test is the most helpful when deciding which type of swallowing condition you might have.
X-rays of the upper digestive system. X-rays are taken after drinking a chalky liquid called barium. The barium coats the inside lining of the digestive tract and fills digestive organs. This coating allows a healthcare professional to see a silhouette of the esophagus, stomach and upper intestine. In addition to drinking the liquid, swallowing a barium pill can help show a blockage in the esophagus.
Upper endoscopy. An upper endoscopy uses a tiny camera on the end of a flexible tube to visually examine the upper digestive system. Endoscopy can be used to find a partial blockage of the esophagus. Endoscopy also can be used to collect a sample of tissue, called a biopsy, to be tested for complications of reflux such as Barrett esophagus.
Functional luminal imaging probe (FLIP) technology. FLIP is a new technique that can help confirm an achalasia diagnosis if other tests aren't enough.

Treatment

Achalasia treatment focuses on relaxing or stretching open the lower esophageal sphincter so that food and liquid can move more easily through the digestive tract.

Specific treatment depends on your age, health condition and the severity of the achalasia.

Nonsurgical treatment

Nonsurgical options include:

Pneumatic dilation. During this outpatient procedure, a balloon is inserted into the center of the esophageal sphincter and inflated to enlarge the opening. Pneumatic dilation may need to be repeated if the esophageal sphincter doesn't stay open. Nearly one-third of people treated with balloon dilation need repeat treatment within five years. This procedure requires sedation.
OnabotulinumtoxinA (Botox). This muscle relaxant can be injected directly into the esophageal sphincter with a needle during an endoscopy. The injections may need to be repeated, and repeat injections may make it more difficult to perform surgery later if needed.

Botox is generally recommended only for people who can't have pneumatic dilation or surgery due to age or overall health. Botox injections typically do not last more than six months. A strong improvement from injection of Botox may help confirm a diagnosis of achalasia.
Medicine. Your doctor might suggest muscle relaxants such as nitroglycerin (Nitrostat) or nifedipine (Procardia) before eating. These medicines have limited treatment effect and severe side effects. Medicines are generally considered only if you're not a candidate for pneumatic dilation or surgery and Botox hasn't helped. This type of therapy is rarely indicated.

Surgery

Surgical options for treating achalasia include:

Heller myotomy. A Heller myotomy involves cutting the muscle at the lower end of the esophageal sphincter. This allows food to pass more easily into the stomach. The procedure can be done using a minimally invasive technique called a laparoscopic Heller myotomy. Some people who have a Heller myotomy may later develop gastroesophageal reflux disease (GERD).

To avoid future problems with GERD, a surgeon might do a procedure known as fundoplication at the same time as a Heller myotomy. In fundoplication, the surgeon wraps the top of the stomach around the lower esophagus to create an anti-reflux valve, preventing acid from coming back into the esophagus. Fundoplication is usually done with a minimally invasive procedure, also called a laparoscopic procedure.
Peroral endoscopic myotomy (POEM). In the POEM procedure, the surgeon uses an endoscope inserted through the mouth and down the throat to create an incision in the inside lining of the esophagus. Then, as in a Heller myotomy, the surgeon cuts the muscle at the lower end of the esophageal sphincter.

POEM may also be combined with or followed by later fundoplication to help prevent GERD. Some patients who have POEM and develop GERD after the procedure are treated with daily medicine taken by mouth.