Achalasia

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at April 21, 2016
StartDiseasesAchalasia

Achalasia is a very rare condition that causes people to experience trouble eating and digesting food because their esophagus does not work properly. Though there is no definitive way to prevent achalasia, it can still be treatable for the majority of patients.

Contents

Definition & Facts

Achalasia is technically a general term used to describe any time when the smooth muscle fibers in a sphincter do not relax properly, but most doctors are referring to esophageal achalasia when they mention the condition. In a healthy person, the esophagus leads from the mouth to the stomach, and it is closed at the top and bottom by two sphincters that relax when food is being swallowed.

For people with achalasia, the lower esophageal sphincter, right above the stomach, does not relax after they swallow. Instead of traveling to the stomach, food backs up in the esophagus, damaging the nerves which squeeze food downwards, and this creates difficulty swallowing and difficulty with digestion.

Symptoms & Complaints

Because the esophagus is not functioning properly, those who have achalasia often feel like it is hard to swallow or experience the sensation that food is stuck in their throat. This difficulty swallowing occurs whether the person is eating or drinking, and it tends to progressively worsen over time. Food that cannot be digested is often regurgitated, and the inability to easily eat food leads to weight loss.

Instead of just being backed up in the esophagus, food or liquid might travel to the lungs instead of the stomach, causing coughing fits. Even when a person with achalasia is not trying to eat, they may cough when they are laying down horizontally. All of these symptoms of achalasia can be accompanied by chest pain so intense that some people think they are having a heart attack.

Causes

Achalasia occurs when the nerves in the mouth, esophagus, and lower esophageal sphincter do not work together properly. When this happens, the lower esophageal sphincter does not always relax at the right time.

There are a few different factors that can influence the development of achalasia, so it is often hard to determine the exact cause. Sometimes, achalasia is caused by an autoimmune disease. In this case, the immune system overreacts and accidentally starts to kill off healthy cells in the esophagus, leading to degenerated nerves that do not properly alert the lower esophageal sphincter to swallowing.

The condition appears to be somewhat genetic, because some people are naturally born with less nerves throughout the esophagus. Some people seem to be more likely to develop achalasia after dealing with a parasitic infection, especially the Chagas disease parasite that comes from South America.

At other times, damage to the esophagus due to cancer or other conditions can trigger the symptoms of achalasia. There are a variety of other factors that can affect whether or not a person gets achalasia, and researchers are not entirely certain of how all of these factors contribute to the condition developing.

Diagnosis & Tests

Achalasia shares many symptoms with gastroesophageal reflux disease, so it is sometimes misdiagnosed. However, doctors may began testing for achalasia if a patient still experiences achalasia symptoms while taking medication for acid reflux. One common test for achalasia is an esophageal manometry test. In this test, a thin probe is inserted through the nose and down into the esophagus. As the patient swallows, the probe measures the muscle contractions throughout the esophagus.

People with achalasia will have unusually high pressure in their lower esophageal sphincter while swallowing because it is not opening up to allow food through. An X-ray can also be used in conjunction with a barium solution to examine the esophagus. The doctor will have the patient drink a barium solution that shows up on the X-ray machine so they can see how the esophagus is working.

People who have achalasia have an esophagus that is unnaturally wide at the bottom before tapering into an unusually thin area by the lower sphincter. This unusually shaped esophagus is due to the buildup of food gradually stretching the esophagus over time.

Treatment & Therapy

Fortunately, achalasia is treatable for about 95 percent of patients. The least invasive solution is oral medications, such as calcium channel blockers or nitrates, that can help to relax the sphincter. Eating slowly and chewing food thoroughly can also help to alleviate the difficulty swallowing that many achalasia patients face. Botox injections can also be used to relax the lower esophageal sphincter, but this is a temporary treatment that only remains effective for a few months.

A more permanent solution is pneumatic dilation, which is particularly effective for patients who are above the age of 40. During dilation, a balloon is inserted into the esophagus and inflated. This process stretches out and dilates the smooth muscle fibers that are so tightly clenched.

If no other solution is effective, laparoscopic esophageal myotomy may be done. During this surgery, a few of the layers of the esophagus are cut, so it is not squeezed as tightly by the layers of muscle. The doctors can then apply a wrap around the esophagus to prevent acid reflux while still allowing swallowing. This surgery is minimally invasive, and it only requires small incisions.

Prevention & Prophylaxis

Many of the factors that contribute to the onset of achalasia, such as cancer or genetics, are unfortunately not preventable. Living a healthy lifestyle may aid in preventing the inflammation or damage that can trigger an autoimmune response, but there is no definitive scientific research that shows this is effective.

The only truly preventable cause of achalasia is Chagas disease and other parasitic diseases. These infections can be prevented by using mosquito nets, insecticides, and avoiding areas with pests that can transmit these diseases. Though it cannot be prevented, early detection of achalasia can prevent the more serious symptoms from developing over time.