How Achalasia Is Diagnosed

Achalasia is a rare swallowing disorder where the tube connecting your mouth to your stomach (esophagus) cannot properly move food, and the muscle at the bottom of your esophagus (lower esophageal sphincter) does not relax. Diagnosing achalasia involves specific tests to confirm these issues, helping your doctor understand the problem and plan effective treatment.

What is How Achalasia Is Diagnosed?

Diagnosing achalasia involves a series of tests to identify why you are having difficulty swallowing. This condition occurs when the nerves in your esophagus become damaged, preventing the muscle at the end of your esophagus (lower esophageal sphincter, or LES) from opening correctly and your esophagus from pushing food down.

Achalasia is a rare disorder that affects your esophagus, the muscular tube that carries food and liquids from your mouth to your stomach. Normally, the muscles in your esophagus contract in a wave-like motion (peristalsis) to push food down. At the same time, a ring of muscle at the bottom of your esophagus, called the lower esophageal sphincter (LES), relaxes to let food pass into your stomach. In people with achalasia, these processes do not work correctly. The nerves in the esophagus become damaged, causing the esophageal muscles to lose their ability to push food downwards. Additionally, the LES fails to relax and open properly, creating a blockage that prevents food and liquid from entering the stomach. This leads to symptoms like difficulty swallowing and food getting stuck. Because achalasia symptoms can resemble other conditions, a precise diagnosis is crucial. Your doctor will use specific diagnostic tools to confirm achalasia, rule out other issues, and assess the severity of the condition. These tests help to visualize the esophagus and measure its function.

Symptoms

Achalasia symptoms usually develop slowly over months or years and often worsen over time. The main symptom is difficulty swallowing (dysphagia), affecting both solids and liquids. Other common symptoms include regurgitation of undigested food, chest pain, heartburn, and unintentional weight loss.

The most common and often first symptom of achalasia is difficulty swallowing, known as dysphagia. This can feel like food or liquid is getting stuck in your throat or chest after you eat or drink. This symptom typically affects both solid foods and liquids, which is a key indicator that helps doctors differentiate achalasia from other swallowing problems. Another frequent symptom is the regurgitation of undigested food or saliva. Because food cannot easily pass into the stomach, it may come back up into your mouth, especially when you lie down. This can sometimes lead to coughing or choking, and in some cases, food may enter your windpipe (trachea), causing lung problems. Many people with achalasia also experience chest pain, which can be mistaken for heart problems. This pain is often described as a squeezing or burning sensation behind the breastbone. Heartburn, a burning sensation in the chest, can also occur, though it is often due to food sitting in the esophagus rather than stomach acid reflux. Unintentional weight loss is common because eating becomes difficult and painful, leading to reduced food intake.

Causes & risk factors

The exact cause of achalasia is unknown, but it is believed to result from nerve damage in the esophagus, specifically to the nerves that control the muscles and the lower esophageal sphincter. This nerve damage prevents the esophagus from functioning correctly. There are no known modifiable risk factors for developing achalasia.

Achalasia is primarily caused by damage to the nerves in the esophagus. These nerves are responsible for coordinating the muscle contractions that push food down and for signaling the lower esophageal sphincter (LES) to relax. When these nerves are damaged or degenerate, the esophagus loses its ability to move food, and the LES remains tightly closed. Researchers do not fully understand why this nerve damage occurs in most cases. Some theories suggest it might be an autoimmune response, where the body's immune system mistakenly attacks its own nerve cells in the esophagus. In some rare instances, viral infections or genetic factors have been explored as potential triggers, but these are not definitively established as direct causes for the majority of cases. Unlike many other conditions, there are no well-established risk factors that increase your likelihood of developing achalasia, such as diet, lifestyle, or environmental exposures. It affects men and women equally and can occur at any age, though it is most commonly diagnosed in adults between 30 and 60 years old. Very rarely, achalasia can be associated with other medical conditions, but these are exceptions rather than common risk factors.

How it's diagnosed

Diagnosing achalasia typically involves several key tests: esophageal manometry, barium swallow, and endoscopy. Esophageal manometry is considered the most definitive test, measuring the pressure and coordination of esophageal muscle contractions and the lower esophageal sphincter's relaxation. These tests help confirm the diagnosis and rule out other conditions.

The diagnostic process for achalasia usually begins with a thorough review of your medical history and a physical exam. Your doctor will ask about your symptoms, how long you've had them, and their severity. Given that achalasia symptoms can mimic other conditions like gastroesophageal reflux disease (GERD), a precise diagnosis is essential. One of the primary diagnostic tools is **esophageal manometry**. This test involves passing a thin, flexible tube with pressure sensors through your nose, down your esophagus, and into your stomach. As you swallow sips of water, the sensors measure the pressure and pattern of muscle contractions in your esophagus and how well your lower esophageal sphincter (LES) relaxes. In achalasia, manometry typically shows a lack of coordinated contractions (peristalsis) and a failure of the LES to relax properly, along with high resting pressure in the LES. This test is considered the most accurate for diagnosing achalasia. Another important test is a **barium swallow** (also called an esophagram). For this test, you drink a liquid containing barium, which coats the inside of your esophagus and makes it visible on X-rays. The X-rays show how the barium moves down your esophagus and if it gets stuck. In people with achalasia, the barium swallow often reveals a dilated (widened) esophagus and a characteristic "bird's beak" appearance at the LES, where the esophagus narrows significantly before the stomach. This test helps visualize the structural changes caused by achalasia. An **upper endoscopy** may also be performed. During this procedure, a thin, flexible tube with a light and camera (endoscope) is passed down your throat to examine the lining of your esophagus, stomach, and the beginning of your small intestine. While an endoscopy might not directly diagnose achalasia, it helps rule out other conditions that can cause similar symptoms, such as tumors or strictures (narrowing) that might block the esophagus. It can also show if the esophagus is dilated or if there is food residue present, which are common findings in achalasia.

Treatment options

Treatment for achalasia focuses on relaxing or stretching the lower esophageal sphincter (LES) to allow food to pass into the stomach, as there is no cure for the underlying nerve damage. Options include medications, endoscopic procedures like balloon dilation or Botox injections, and surgery (laparoscopic Heller myotomy or peroral endoscopic myotomy, POEM).

Since the nerve damage causing achalasia cannot be reversed, treatments aim to relieve symptoms by reducing the pressure in the lower esophageal sphincter (LES). This allows food and liquids to pass more easily into the stomach. Your doctor will discuss the best approach based on your specific condition and overall health. Non-surgical options include medications and endoscopic procedures. Medications, such as muscle relaxants, can sometimes be used to relax the LES, but they are generally less effective than other treatments and often only provide temporary relief. **Botox injections** (botulinum toxin) can be injected directly into the LES during an endoscopy to temporarily paralyze the muscle and help it relax. This effect typically lasts for about six months to a year. **Pneumatic dilation** is another endoscopic procedure where a special balloon is inserted into the LES and inflated to stretch the muscle fibers. This procedure often needs to be repeated over time. Surgical treatments offer more long-lasting relief. A **laparoscopic Heller myotomy** is a surgical procedure where the muscle fibers of the LES are cut, allowing it to relax permanently. This is often performed minimally invasively through small incisions. Another advanced endoscopic procedure is **peroral endoscopic myotomy (POEM)**, where an endoscope is used to cut the LES muscle from inside the esophagus, without external incisions. Both surgical options are generally very effective in relieving symptoms, though they carry potential risks like gastroesophageal reflux.

Recovery & outlook

Recovery from achalasia treatment varies depending on the procedure, but most people experience significant symptom improvement. While treatments can effectively manage symptoms, they do not cure the underlying condition, meaning lifelong monitoring and potential repeat treatments may be necessary. The outlook is generally good for symptom relief.

After treatment for achalasia, most people experience a significant improvement in their ability to swallow and a reduction in other symptoms like chest pain and regurgitation. The recovery period depends on the type of treatment. For example, recovery from endoscopic procedures like Botox injections or pneumatic dilation is usually quick, often allowing you to go home the same day. Surgical procedures like Heller myotomy or POEM require a longer recovery, typically a few days in the hospital and several weeks of restricted activity and diet. It's important to understand that while treatments effectively manage the symptoms of achalasia, they do not cure the underlying nerve damage in the esophagus. This means that achalasia is a chronic condition that often requires ongoing management. Some people may need repeat treatments over time, especially after pneumatic dilation or Botox injections, as the effects can wear off. Long-term monitoring is often recommended to ensure symptoms remain controlled and to check for potential complications, such as the development of gastroesophageal reflux disease (GERD) after surgery, or, rarely, an increased risk of esophageal cancer over many years. With appropriate treatment and follow-up, most individuals with achalasia can maintain a good quality of life and manage their symptoms effectively.

When to see a doctor

You should see a doctor if you experience persistent difficulty swallowing (dysphagia), especially if it affects both solids and liquids, or if you are frequently regurgitating undigested food. Seek immediate medical attention if you have severe chest pain, sudden difficulty breathing, or are choking on food, as these could indicate serious complications.

If you are experiencing ongoing difficulty swallowing, particularly if it affects both solid foods and liquids, it is important to schedule an appointment with your doctor. This symptom, known as dysphagia, is a key indicator of potential esophageal problems, including achalasia. Early diagnosis can help prevent the condition from worsening and reduce the risk of complications. You should also consult a healthcare professional if you frequently regurgitate undigested food, experience unexplained weight loss, or have persistent chest pain that is not related to heart issues. These symptoms, when combined with swallowing difficulties, warrant a medical evaluation to determine the underlying cause and receive appropriate care. Seek immediate medical attention or go to an emergency room if you experience severe chest pain, especially if it's accompanied by shortness of breath or radiating pain, as these could be signs of a heart attack or other serious conditions. Additionally, if you suddenly cannot swallow at all, are choking severely, or have food lodged in your throat that you cannot clear, these are emergency situations that require prompt medical intervention.

Frequently asked questions

Can achalasia be misdiagnosed?

Yes, achalasia can sometimes be misdiagnosed because its symptoms, such as chest pain and heartburn, are similar to more common conditions like gastroesophageal reflux disease (GERD). This is why specific diagnostic tests like esophageal manometry and barium swallow are crucial to confirm achalasia and rule out other possibilities.

How long does it take to diagnose achalasia?

The time it takes to diagnose achalasia can vary. Because symptoms often develop slowly and can mimic other conditions, it may take several months or even years from the onset of symptoms until a definitive diagnosis is made. Once you see a specialist, the diagnostic tests themselves usually take a few days to a few weeks to complete and interpret.

Is achalasia curable?

No, achalasia is not curable because the underlying nerve damage in the esophagus cannot be reversed. However, treatments are highly effective at managing symptoms by relaxing or opening the lower esophageal sphincter, allowing food to pass into the stomach. Most people experience significant relief and improved quality of life with treatment.

What happens if achalasia is left untreated?

If achalasia is left untreated, symptoms typically worsen over time. This can lead to severe difficulty swallowing, significant weight loss, malnutrition, and dehydration. The esophagus can also become severely dilated (widened) and twisted, and there's a small, long-term increased risk of developing esophageal cancer.

Are there different types of achalasia?

Yes, based on findings from high-resolution esophageal manometry, achalasia is classified into three types. Type I (classic achalasia) shows no esophageal pressurization. Type II (achalasia with esophageal compression) involves pan-esophageal pressurization. Type III (spastic achalasia) is characterized by premature or spastic contractions. These classifications can help guide treatment decisions.

Which diagnostic test is most important for achalasia?

Esophageal manometry is considered the most important and definitive diagnostic test for achalasia. It directly measures the function of the esophageal muscles and the lower esophageal sphincter, providing objective evidence of the characteristic abnormalities of achalasia, such as the absence of coordinated contractions and failure of the LES to relax.

Sources

• MedlinePlus — How Achalasia Is Diagnosed
• Mayo Clinic — How Achalasia Is Diagnosed
• Cochrane Library — How Achalasia Is Diagnosed