Achalasia is a rare condition that makes it difficult for food and liquid to pass from the esophagus into the stomach. This occurs when there is damage to the nerves and muscles in the esophagus. Doctors don’t know what causes this to happen, and there is no cure.

But achalasia is treatable, said gastroenterologist Michael S. Karasik, MD. Until recently, Karasik was the only physician in Connecticut to offer what is considered the most effective treatment of achalasia.

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One challenge in treating achalasia is that when symptoms first appear, it is often mistaken for gastroesophageal reflux disease (GERD). When the esophagus stops functioning properly, food collects there. With nowhere to go, the patient regurgitates the food. In severe cases, patients can’t even swallow liquids. The difference is that with GERD, the food is coming back up from the stomach, and with achalasia, the food never gets that far before coming back up.

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What to look out for

Achalasia often begins sporadically and then becomes more constant. Signs and symptoms may include:

  • Inability to swallow (dysphagia), which may feel like food or drink is stuck in your throat
  • Regurgitating food or saliva
  • Heartburn
  • Belching
  • Chest pain that comes and goes
  • Coughing or vomiting, particularly at night
  • Pneumonia (from aspiration of food into the lungs)
  • Weight loss
  • Vomiting

Karasik said he has treated patients from teenagers to adults in their 90s. He said some cases are so severe that patients can vomit seven to 10 times a day, and have lost up to 80 pounds. “You are uncomfortable, you can’t sleep, you lose weight, and there is the risk of aspiration of the vomit, which could lead to pneumonia,” he said.

Diagnosis of achalasia

Because symptoms are similar to other gastric or cardiac issues, by the time a patient makes their way to Karasik they are often quite sick and debilitated. Common diagnosis methods include:

  • Esophageal manometry. This test measures the rhythmic muscle contractions in your esophagus when you swallow, the coordination and force exerted by the esophagus muscles, and how well your lower esophageal sphincter relaxes or opens during a swallow. This test is the most helpful when determining which type of motility problem you might have.
  • X-rays of the upper digestive system (esophagram). X-rays are taken after you drink a chalky liquid that coats and fills the inside lining of your digestive tract. The coating allows your doctor to see a silhouette of your esophagus, stomach and upper intestine. You may also need to swallow a barium pill that can help to show a blockage of the esophagus.
  • Upper endoscopy. Your doctor inserts a thin, flexible tube equipped with a light and camera (endoscope) down your throat to examine the inside of your esophagus and stomach. Endoscopy can help define a partial blockage of the esophagus if your symptoms or results of a barium study indicate that possibility. Endoscopy can also be useful to collect a sample of tissue (biopsy) to test for complications of reflux such as Barrett’s esophagus.

I have achalasia – now what?

Karasik said there are four options for treatment of the condition. His preferred approach is Peroral endoscopic myotomy (POEM). The newest method is far less invasive than the other surgical option, which means it has a quicker recovery and fewer complications.

  • Peroral endoscopic myotomy (POEM). POEM uses an endoscope — a narrow flexible tube with a camera — that is inserted through the mouth to cut muscles in the esophagus (a myotomy). Cutting the muscles loosens them and prevents them from tightening and interfering with swallowing. “I do a lot of these,” Karasik said. “The patients love it. It provides long term relief and it’s about 94% effective for all types of achalasia.”
  • Laparoscopic Heller myotomy (LHM). This method is more invasive, as the surgeon reaches the esophagus to make the cut via the abdominal wall. It is laparoscopic, which is less invasive than traditional surgery, but does cut through the abdominal muscle.

Non-surgical options are:

  • Pneumatic dilation. A balloon is inserted by endoscopy into the center of the esophageal sphincter and inflated to effectively tear the opening. Until the introduction of the surgical options, this was the most common method but overall response rates are at most 50% to 75%.
  • Botox (botulinum toxin type A). This muscle relaxant can be injected directly into the esophageal sphincter with an endoscopic needle. It paralyzes the muscle so that food is able to pass through. Repeat injections are typically necessary, and the frequency often increases as treatment continues.

The long run

With no cure, patients who develop achalasia will live it with for the rest of their lives. With the above interventions, it can be manageable. Regardless of the method of treatment, Karasik said, “they do have to eat differently for the rest of their lives. The esophagus is no longer doing the work to move the food from the throat into the stomach, and so gravity has to take over.”

He counsels patients to:

  • Always eat slowly.
  • Take small bites.
  • Drink lots of fluids.
  • Chew their food well.