Esophageal Achalasia

Achalasia — which means “failure to swallow” — is a rare disorder of the esophagus that makes swallowing difficult. This condition occurs because the nerves of the esophagus do not work. Children suffering from achalasia cannot easily push food down towards the stomach because of a lack of nerves, an enlarged esophagus, and from the inability to relax the lower esophageal muscle (which would also help move food toward the stomach). Children with 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.

The causes of achalasia are not yet known. Experts have found that a combination of autoimmune, viral, and neurodegenerative factors can potentially lead to achalasia.

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

• Dysphagia (difficulty swallowing liquids or solids)
• Feeling food is stuck in the chest
• Regurgitation of undigested swallowed foods and liquids after meals
• Chest pain/heartburn
• Sensation of a lump in the throat
• Hiccups
• Weight loss
• Asthma

Children with achalasia are 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.
• Upper 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 is EndoFLIP (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.

Treating 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 widen the opening where food enters the stomach. Your child will be lightly sedated for this procedure.
• Myotomy: A minimally invasive surgical procedure that cuts 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 achalasia, but they do provide most patients with long-term relief of their symptoms.

Some medications can be used temporarily to treat 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.

The skilled clinicians in the 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 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 achalasia.