What is achalasia?

Achalasia (which means “failure to relax”) is a motility disorder of the esophagus, the tube through in which food travels to the stomach. In children with esophageal achalasia, the muscles in the esophagus stop effectively moving food through the esophagus. The lower esophageal sphincter (LES) — the muscular ring at the point where the esophagus and stomach meet — also fails to relax completely during swallowing. This makes it difficult for food to pass into the stomach. This condition is also sometimes referred to as achalasia cardia.

Causes of achalasia

The exact cause of achalasia is unknown. Studies have proposed an association with autoimmune, viral and neurodegenerative triggers that may lead to the loss of inhibitory neurons in the nerves in the esophagus that coordinate esophageal contractions and relaxation of the LES during a meal.

Signs and symptoms of achalasia

The primary symptom of achalasia is difficulty swallowing. Children with achalasia may feel like food is getting stuck in their throats. Regurgitation of food after meals, chest pain and weight loss can also be seen in patients with achalasia.

Testing and diagnosis of achalasia

Children with symptoms commonly seen in esophageal achalasia may require an esophagogastroduodenoscopy (EGD), commonly called an endoscopy. Other diagnostic tests may include a timed barium esophagogram (TBE) and an esophageal manometry/high resolution manometry (HRM). Currently, EndoFLIP technology is being tested as a potential diagnostic test for achalasia.

An upper endoscopy allows your child's doctor to use an endoscope (a long, thin tube) to look at the lining of your child's esophagus, stomach and proximal small bowel. This is done to confirm the absence of any mechanical obstruction and exclude any infectious and inflammatory causes of presenting symptoms. In achalasia, an upper endoscopy may reveal retention of liquids and solids in the esophagus or a dilated esophagus.

Timed barium esophagogram (TBE)

In a barium study, your child drinks a barium liquid that coats the upper GI tract, illuminating the flow of the liquid through the esophagus, stomach and duodenum (the first part of the small intestine). Completed under the careful supervision of a radiologist, this test may reveal a dilated esophagus, dysmotility (when the muscles of the esophagus, stomach or intestines aren't coordinating as they should) or narrowed gastroesophageal junction (GEJ).

Manometry

Esophageal manometry measures the rhythm and coordination of muscle contractions in your child’s esophagus during swallowing. During esophageal manometry, a thin, flexible tube is inserted through the nose, down the esophagus and into the stomach. Esophageal manometry is the gold standard diagnostic test in diagnosing achalasia and reveals the lack of esophageal motility and impaired relaxation of the LES.

EndoFLIP technology

EndoFLIP is a novel device composed of a catheter (thin tube) that is inserted in the esophagus during an endoscopy with a small balloon at the tip that is then inflated when placed across the LES and measures its diameter and stiffness. The EndoFLIP allows the physician to visualize any narrowing at the moment of the study and decide if the area requires dilation.