Achalasia

Achalasia is a rare disorder, with a prevalence of 10 in 100,000. It affects the esophagus and makes it difficult to swallow food or beverages.

The esophagus is a narrow tube that connects the back of your throat to the top of your stomach. The bottom two thirds of the esophagus is surrounded by smooth muscles that contract to move the food from the throat downward in a series of contractions called peristalsis. At the bottom end of the esophagus is another muscle called the lower esophageal sphincter (LES). The LES relaxes to allow food to enter the stomach.

Achalasia occurs when the nerves of the muscles that surround the esophagus or the nerves of the LES become damaged. This nerve damage causes loss of normal esophageal peristalsis and prevents the LES from relaxing properly. As a result, food and drinks may get stuck in the esophagus. Achalasia can occur at any age and is more common in men than in women.

Symptoms of Achalasia

Symptoms of achalasia tend to develop slowly and can worsen over time. The main symptom of achalasia is difficulty swallowing, also known as dysphagia, which can cause a buildup of food in the esophagus. This buildup of food, as well as the abnormal contraction of muscles in the esophagus, can cause further symptoms.

Symptoms include:

difficulty with swallowing (dysphagia)
regurgitation of undigested food or saliva
coughing, especially at night
intermittent chest pain
burping
hiccups
heartburn
weight loss

These symptoms can become serious. Achalasia can increase the risk of inhaling food into the airways, which can lead to an infection in the lungs.

Causes of Achalasia

The causes of achalasia are not well understood. Researchers suspect that achalasia occurs when the nerves in the esophagus are damaged and stop working properly. What causes this nerve damage is not known; however, it could be related to genetics, autoimmune diseases, or infections. Individuals who have achalasia are 3.6 times more likely to have another autoimmune disorder; however, the connection between autoimmune disorders and achalasia is not well understood. Further research is needed to find the definitive causes of achalasia.

Diagnosing Achalasia

Diagnosing achalasia can take a long time due to how uncommon the disorder is. Diagnosis starts with a medical appointment with your doctor. The doctor will review your medical history, ask you questions about your symptoms and conduct a physical exam. If the doctor suspects that achalasia is causing your symptoms, they will ask you to complete further testing.

One or more of these tests are required to diagnose achalasia:

Barium swallow test: In this test, you will swallow a thick liquid called barium. As the barium moves down your esophagus, a medical professional will take X-rays of your upper gastrointestinal tract. On the X-ray image, the barium highlights the internal structures of the esophagus and can help doctors see any abnormalities.
Upper endoscopy: In this procedure, a doctor will insert a thin tube into your mouth, down your esophagus, and into your stomach and small intestines. The tube is equipped with a small camera and a light that allows the doctor to inspect your esophagus to see any structural abnormalities.
Esophageal manometry: Currently, this is the gold standard to diagnose achalasia. In this procedure, a doctor will insert a thin probe through your nose, down your throat and esophagus, then into your stomach. While the tube is in position, you will be asked to sip and swallow water. As the water passes down your esophagus, sensors on the tube will measure the contractions of your esophagus muscles. The doctor will take note of any abnormalities in esophageal motility and function.

Management of Achalasia

While there is no cure for achalasia, there are several treatments that can help relieve symptoms. The goal of these treatments is to relieve the functional obstruction at the bottom of the esophagus so that food and beverages can pass into the stomach. You can discuss treatment options with your healthcare provider to decide the best treatment for you based on the severity and sub-types of your achalasia, your preferences, and locally available expertise.

These treatments can help relieve the symptoms of achalasia:

Pneumatic dilation: In this procedure, a balloon-like medical device is passed through your mouth and into your LES, under endoscopic and fluoroscopic guidance. The balloon is then inflated to help disrupt the muscles of the LES, so that food can more easily pass into your stomach. This procedure requires mild sedation. It generally does not require an admission to the hospital, and once you are recovered from the mild sedation, you are discharged home.
Heller myotomy: In this laparoscopic surgery, a medical professional will make 5 small incisions over the abdomen. Then, they will identify the muscles of your LES laparoscopically and make a small cut along the LES. These cuts help to loosen the muscles and allow food to pass from the esophagus into your stomach more easily. Heller myotomy can increase the risk of acid reflux (when liquid from the stomach splashes into the esophagus). To minimize this risk, your medical professional may also perform a loose fundoplication procedure, in which the top part of your stomach is wrapped around the lower part of your esophagus.
Per-oral endoscopic myotomy (POEM): This procedure is similar to the Heller myotomy. A medical professional will make small cuts in the muscles of your LES to help food pass from the esophagus into the stomach. The difference between POEM and the Heller myotomy is that in POEM the cuts are made using an endoscope that is passed through your mouth and down into your esophagus, but unlike Heller myotomy, at this time, no endoscopic intervention can be done to replace surgical fundoplication. POEM may also increase the risk of acid reflux, more so than Heller myotomy.
Botulinum toxin: In this procedure, botulinum toxin (also known as Botox) is injected into your LES using a special needle that is inserted through an endoscope. The botulinum toxin temporarily relaxes the sphincter. This treatment is recommended for older patients and for people who cannot undergo balloon dilation or myotomy. The effects from botulinum toxin injections only lasts a few months; therefore, repeat treatments may be needed. Though, this should be discussed with the specialists, including your gastroenterologists and/or surgeons.
Medications: Your healthcare provider may recommend muscle relaxant medications or calcium channel blockers to treat achalasia. These medications are not very effective and are generally only used temporarily while you wait for other treatment options.
Dietary changes: Although there are no diets that have been proven to help with achalasia symptoms, it may be helpful to talk with your doctor about what you eat. Certain foods can be more difficult to swallow depending on what type of achalasia you have. You should chew your food well and avoid eating bulky foods that could increase the risk of food bolus obstruction. If you have experienced weight loss, your doctor may recommend high calorie foods or supplements (such as Ensure® or Boost®) to help you maintain a healthy weight while awaiting definitive therapy.
Esophagectomy: In rare cases, untreated achalasia may widen your esophagus which could lead to severe symptoms. If this happens, your healthcare provider may recommend the total removal of your esophagus (esophagectomy). This is done very rarely, reserved for those with long-standing untreated achalasia, with severely dilated esophagus. Once removed, the surgeon will maneuver a portion of your stomach to replace the esophagus.

Achalasia Outlook

Achalasia is a lifelong condition, which if left untreated can result in significant symptoms and complications. It is considered a progressive disorder, which means that symptoms may worsen over time. There is a slight increased risk of esophageal cancer in those with achalasia.

Once achalasia is diagnosed, there are procedures available that can improve symptoms. However, due to its progressive nature, additional treatments may be required. Some treatments of achalasia may cause gastroesophageal reflux, leading to increased risk of esophageal cancer. Therefore, it is important that you talk to your doctor about your condition during regular checkups.