What is Achalasia?
Achalasia (acha-la-sia) is a rare motility (movement) disorder of the esophagus. The esophagus is the tube that connects the mouth to the stomach.
The muscles in the esophagus contract from the top down (called peristalsis). This movement pushes food toward the stomach. If your child has achalasia, these muscles do not work right. Muscle contractions may be unable to move food through the esophagus.
Achalasia makes swallowing food and drink difficult. It can also cause the sphincter, or valve, at the lower end of the esophagus to become tight. This makes it difficult for the food to get to the stomach. Food can get stuck in the esophagus for a long time and lead to vomiting.
What Causes Achalasia?
Achalasia is caused when some of the nerve cells in the muscles of the esophagus don’t send signals to the brain. Nerve cells are needed to tell the muscles of the esophagus to push food and drink to the stomach.
Researchers are not sure why problems with the nerves happen. Some reasons may include:
- Genetics
- Autoimmune reaction
- Viral infection
Achalasia sometimes happens with other conditions, including Allgrove syndrome or Down syndrome.
What are the Symptoms of Achalasia?
Common achalasia symptoms in children include:
- Trouble swallowing
- Vomiting undigested food
- Pain or burning feeling in the chest
- Coughing (especially at night)
- Not gaining weight or weight loss
How is Achalasia Diagnosed?
If achalasia is suspected based on your child’s symptoms, several tests are used to understand how the esophagus is working.
- Motility/Neurogastroenterology clinic visit Your child will meet with a specialist who focuses on how the digestive tract moves food. During this visit, the doctor will review symptoms, medical history and prior testing. The doctor will determine which tests are needed to evaluate how the esophagus is working.
- Endoscopic evaluation of the esophagus (EGD) plus EndoFLIP During this procedure, a small flexible camera is passed through the mouth while your child is asleep under anesthesia. This allows the doctor to look directly at the esophagus and stomach and make sure there are no other causes for the symptoms. An additional tool called EndoFLIP measures how well the lower esophageal valve opens and how stretchy the esophagus is.
- High resolution esophageal manometry test This test measures how well the muscles of the esophagus are working. A thin, flexible tube is gently placed through the nose into the esophagus to measure pressure and muscle contractions while your child swallows small sips of liquid. This is the most important test for diagnosing achalasia.
- Timed barium esophagram This is a special type of X-ray study that shows how liquid moves through the esophagus. Your child drinks a liquid called barium that shows up on X-rays, and images are taken over several minutes to see whether the esophagus empties normally or if food and liquid are getting stuck.
How is Achalasia Treated?
Doctors work with families to understand your child’s medical history, symptoms and goals. Then, they will work with specialists to make sure the right treatments are identified for your child and your family.
Common treatments include:
- Endoscopic balloon dilation to stretch tightened muscles in the lower end of the esophagus. This is done under anesthesia with an endoscope, a lighted tubular instrument.
- Esophagomyotomy, or laparoscopic Heller myotomy, which is a surgery is done under anesthesia. A long cut is made in the narrowed muscles at the end of the esophagus. This ”opens up” the sphincter or valve and lets food pass more easily into the stomach.
- Partial fundoplication is often done with an esophagomyotomy. The procedure takes a small part of the upper stomach and wraps some of it around the lower esophagus. This helps stop acid and food that is in the stomach from backing up into the esophagus.
- POEM (Peroral Endoscopic Myotomy) is a minimally invasive procedure done under anesthesia to treat achalasia. The doctor uses a flexible camera passed through the mouth to cut the tight muscle at the lower end of the esophagus that is blocking food from entering the stomach. By relaxing this muscle, the procedure helps improve swallowing and allows food and liquid to pass more easily into the stomach.
When to Call the Doctor
If your child is having a hard time swallowing food, contact a doctor. Symptoms of achalasia worsen over time, so it’s important to get a diagnosis early.
