Esophageal Achalasia

Esophageal achalasia is a rare disorder of the esophagus that makes swallowing difficult. This occurs because the nerves of the esophagus do not work. Children suffering from esophageal achalasia cannot sufficiently push food down toward the stomach because of a lack of nerves that makes it difficult for the esophagus to contract, an enlarged esophagus and the failure of the lower esophageal muscle to relax. Children with esophageal achalasia can have complications like malnutrition, chest pain and respiratory difficulties. It is a progressive disease, which means it can get worse if not treated.

What causes esophageal achalasia?

The causes of esophageal achalasia are not yet known.

What are the symptoms of esophageal achalasia?

The symptoms of esophageal achalasia can appear in infants, or they can gradually appear in childhood or adulthood. The most common symptoms are:

• difficulty swallowing liquids or solids
• feeling food is stuck in the chest
• regurgitation of undigested swallowed foods and liquids
• chest pain/heartburn
• sensation of a lump in the throat
• hiccups
• weight loss
• asthma

How is esophageal achalasia diagnosed?

Esophageal achalasia is diagnosed with esophageal manometry. During this test, a thin tube is placed through the nose or mouth into the esophagus to measure the pressure within the esophagus and the lower esophageal sphincter.

Other tests that may be used to diagnose this condition or to decide if an esophageal manometry is required include:

• Chest x-rays: These simple exams can show distortion of the esophagus, which can indicate achalasia.
• Barium swallow test: This procedure involves swallowing a substance called barium, a chalky liquid used to coat the inside of organs so that they will show up on an x-ray.
• Endoscopy: This procedure involves the use of a thin and lighted tube placed through the nose or mouth into the esophagus to "see" inside the esophagus.

Another test that can be useful in the evaluation of your child include endofip (endolumenal functional lumen imaging probe), a newer minimally invasive device created to complement traditional diagnostic tests, such as high-resolution esophageal manometry and barium esophagram.

What are the treatment options for esophageal achalasia?

Treating esophageal achalasia involves relieving the obstruction through either:

• Esophageal dilation: A non-surgical therapy that passes a balloon into the esophagus to open the lower esophageal sphincter and widens the opening where food enters the stomach. Your child will be lightly sedated for this procedure.
• Myotomy: A minimally invasive surgical procedure to cut the lower esophageal sphincter, allowing food and liquids to pass to the stomach. A myotomy is typically performed with surgical instruments through the chest wall and requires a short hospital stay. At Boston Children's, a myotomy can also be performed endoscopically with a scope advanced through the mouth in a procedure called Peroral Endoscopic Myotomy (POEM). 

These procedures do not cure esophageal achalasia, but they do provide most patients with long-term relief of their symptoms.

Some medications can be used temporarily to treat esophageal achalasia. These include calcium channel blockers, antispasmodics, or Botulinum toxin to the lower esophageal sphincter. All of them are used in specific cases, and not routinely.

How we care for esophageal achalasia

The skilled clinicians in the and Motility and Functional Gastrointestinal Disorders Center and the Aerodigestive Center at Boston Children's Hospital are experienced in diagnosing and treating children with a range of aerodigestive and motility concerns, including esophageal achalasia. We have a rich understanding of the complexity of the swallowing process, which allows us to consider all aspects of this mechanism when evaluating and treating esophageal achalasia.