• Achalasia: Causes, Symptoms, and Diagnosis

    Achalasia: Causes, Symptoms, and Diagnosis

    Most patients are well familiar with their esophagus, the tube that carries food from the mouth to the stomach. There are certainly numerous esophageal disorders that range in severity, from something as benign as simple heartburn to something painful and serious, such as Barrett’s esophagus. There is also a lesser-known, rare condition known as achalasia that affects the esophagus and usually requires some type of surgical intervention to provide relief. Read on to learn more about this rare condition and what causes it, what symptoms to be mindful of, and what treatments are available for those who carry the diagnosis. 

    What Is Achalasia?


    Achalasia is a rare disorder that affects roughly 1 in 100,000 people in the United States. However, it is an extremely severe condition that goes beyond just affecting quality of life–it can prevent you from swallowing food. Essentially, achalasia is a malfunction of the lower esophageal sphincter (LES), which is a muscle that opens and closes as you swallow food. It is located between the esophagus and the stomach. In a patient without achalasia, the LES opens and closes when needed, letting food enter the mouth, pass through the esophagus, and properly into the stomach. In a patient with achalasia, the LES never opens. This leads to a backup of food in the esophagus, which harms the lining and damages the nerves. It also damages the LES itself. Obviously, some food must pass through at some point, or a patient would gain no nutrients or food, but what achalasia is has a lot to do with a dysfunction of peristalsis, which is the ability to push food down towards the stomach. 

    Who Is at Risk for Achalasia?


    Anyone of any age is at risk for achalasia, although it does seem to occur later in life most often. The most affected populations are between the ages of 25 and 60. However, achalasia can also occur in children, and while this is rarer than in adults, it can happen. It appears that in most cases, males and females were affected equally. However, in cases of achalasia that were directly tied to genetics, males were twice as likely as females to be diagnosed. Achalasia also appears to be common in those with autoimmune disorders. 

    As opposed to other gastrointestinal disturbances (such as mild heartburn or acid reflux), there doesn’t seem to appear to be preventative measures a patient can take in order to avoid the condition. For example, avoiding spicy food, not eating directly before bed, or avoiding tomato products will not prevent you from getting achalasia. (These are all lifestyle changes you would make if you were trying to prevent outbreaks of frequent heartburn or similar conditions). 

    What Are the Symptoms of Achalasia?


    Symptoms of achalasia should alert you to the fact that something is seriously wrong. They are often mistaken for other conditions, but these are also other severe conditions (such as esophageal cancer). Some of the most common symptoms of achalasia include:

    • Trouble swallowing food
    • Feeling as if food is “stuck” in your throat or your chest
    • Heartburn 
    • Intense pain after meals
    • Weight loss
    • Chest discomfort or chest pain
    • Regurgitation or backflow

    It is essential to let your physician know about all of your symptoms. Achalasia is quite often mistaken for other motility disorders or swallowing disorders. Some swallowing disorders can be a side effect of a bigger picture, such as ALS, Lou Gehrig’s disease, or Parkinson’s disease. 

    The symptoms of esophageal cancer also closely relate to those of achalasia. A tumor that grows in the esophagus may block food in the same manner as achalasia can. However, if you’re experiencing any type of disorder where you have difficulty swallowing food, see your healthcare provider as soon as possible.

    How Is Achalasia Diagnosed?


    Achalasia may be one of the first things your doctor suspects if you report signs and symptoms of trouble swallowing both food and liquid that do not improve within several days. Sometimes viruses can cause lymph nodes to swell, which can make it tough for foods or liquids to pass through. This can be common, especially during cold and flu season. But, if after several days, your symptoms don’t improve, they are accompanied by terrible pain, or if they worsen, it’s best to see your doctor. 

    Achalasia can be diagnosed functionally in a manner of ways. Many physicians choose to use esophageal manometry. Using this method, a doctor will place a small tube inside your esophagus while you swallow to see how your LES and your esophagus function. Some doctors may want an in-depth look and will prefer to use an endoscope and perform an endoscopy. During this test, your physician will insert a small tube into your esophagus with a small camera attached at the end to take photographs of your LES and esophagus. This enables your doctor to see your esophagus at close range to diagnose problems. 

    Your physician may also order regular X-rays or barium swallow X-rays. With barium X-rays, You will drink barium that’s been prepared in a liquid format. Once consumed, the doctor will be able to see the areas they need to see more clearly when the X-ray is taken.

    How Is Achalasia Treated?


    The treatment depends on the age of the patient and how severe the achalasia is. Most physicians do not want to turn to surgery as a first-line treatment for any condition, so other options are exhausted first. All options, surgical or nonsurgical, have the intent to make the LES work properly.

    Nonsurgical options include pneumatic dilation, where a balloon is inserted into the LES and inflated to ensure that it stays open. This works for a large number of patients but often needs to be repeated within several years. 

    Patients are also often injected with Botox (botulinum toxin type A). While a popular medical procedure, Botox is also a muscle relaxant than can be injected directly into the LES. Unfortunately, this is a procedure that needs to be often repeated, and if it is repeated too often, it may rule surgery out as a viable option later on. 

    The most common surgical option for achalasia is a Heller myotomy. During this procedure, the surgeon removes the lower portion of the LES simply to allow food to pass easily through to the stomach. To be less invasive, this procedure can be done using a laparoscope instead of open surgery. This procedure does pose some risks; opening up the LES does pose a threat of developing gastroesophageal reflux disease (GERD) later on.

    Fundoplication is sometimes performed during a Heller myotomy to prevent GERD complications. While the surgeon is performing the Heller myotomy, he or she will wrap the top portion of the stomach around the LES. This can also be done with a laparoscope. 

    Peroral endoscopic myotomy (POEM) is another surgical procedure. Similarly to Heller myotomy, the surgeon cuts the LES to allow through to pass. However, instead of using a laparoscope, the surgeon uses an incision made using an endoscope. Fundoplication cannot be used with POEM, and therefore, GERD is more likely in the future. 

    What Is the Long-Term Outlook?


    The long-term outlook varies for variances in cases and methods of treatments. If dilation doesn’t work for patients the first time, then surgery is often recommended. Botox isn’t a first-line treatment because of the frequency necessary to make the treatment work. Too much Botox can invalidate surgical options, should they be required later, so doctors are wary of turning to it as a viable option for anything more than a mild case that only warrants occasional treatment. 

    For patients who do have surgery, roughly 95 percent report a decrease in symptoms and an increase in quality of life. Most nonsurgical treatments require some type of repeat treatment to be successful. The one good piece of news about surgery is that, if successfully performed, most patients remain symptom-free or nearly symptom-free for the remainder of their lives where achalasia is concerned. However, there can be other gastrointestinal complications (such as GERD) for those who have elected to have surgery. If you need more information about achalasia or other esophageal disorders, request an appointment with GI Associates & Endoscopy Center today. We have three separate locations, as well as pediatric services, and comprehensive, individualized care.