Achalasia

Achalasia is a rare disorder that affects your esophagus, the muscular tube that carries food from your mouth to your stomach. It makes it hard for food and liquids to pass into your stomach because the muscles in your esophagus don't work correctly, and the valve at the bottom of your esophagus doesn't relax as it should.

What is Achalasia?

Achalasia is a rare condition where the esophagus, or food pipe, loses its ability to push food down into the stomach. This happens because the nerves in the esophagus are damaged, and the muscular ring at its lower end, called the lower esophageal sphincter (LES), fails to open properly during swallowing.

Your esophagus is a muscular tube that moves food from your throat to your stomach through a series of wave-like contractions called peristalsis. With achalasia, these contractions become weak or stop entirely. This means food and liquids cannot be effectively pushed down. At the bottom of your esophagus is a ring of muscle called the lower esophageal sphincter (LES). This sphincter acts like a valve, opening to let food into your stomach and closing to prevent stomach acid from coming back up. In achalasia, the LES remains tightly closed and does not relax as it should when you swallow, creating a blockage. Because food and liquid cannot easily pass into the stomach, they can build up in the esophagus. This can lead to various symptoms and, over time, may cause the esophagus to widen and become stretched out. Achalasia is a chronic condition, meaning it is long-lasting, but treatments can help manage the symptoms.

Symptoms

The main symptom of achalasia is difficulty swallowing, known as dysphagia, affecting both solids and liquids. Other common symptoms include regurgitation of undigested food, chest pain, and unintentional weight loss due to reduced food intake.

Difficulty swallowing (dysphagia) is the most common symptom of achalasia. This can feel like food is stuck in your throat or chest after you eat. Unlike other swallowing problems, achalasia often makes it difficult to swallow both solid foods and liquids from the beginning. Many people with achalasia experience regurgitation, which is when undigested food and saliva come back up into the mouth. This is not the same as vomiting, as the food has not reached the stomach. Regurgitation often happens hours after eating, especially when lying down, and can lead to coughing or choking. Some individuals may feel chest pain, which can be mistaken for heartburn or a heart attack. This pain can be severe and may radiate to the back, neck, or arms. Over time, the difficulty eating can lead to significant and unintentional weight loss, as well as malnutrition. Other symptoms can include coughing, especially at night, and hoarseness from regurgitated material irritating the vocal cords.

Causes & risk factors

The exact cause of achalasia is unknown, but it is believed to result from damage to the nerves in the esophagus that control swallowing and the relaxation of the lower esophageal sphincter. It is not considered hereditary, and there are no clear risk factors that make someone more likely to develop it.

Achalasia occurs when the nerve cells in the wall of the esophagus, particularly those that control the lower esophageal sphincter (LES), are damaged or lost. These nerves are crucial for coordinating the muscle contractions that push food down and for signaling the LES to relax. Without these nerves, the esophagus cannot function properly. While the precise reason for this nerve damage is unclear, it is thought to be an autoimmune response in some cases. This means the body's immune system mistakenly attacks its own healthy cells, including those in the esophagus. Infections, such as those caused by certain viruses, have also been suggested as potential triggers for this autoimmune reaction. Achalasia is a rare condition, affecting about 1 in 100,000 people each year. It can develop at any age, but it is most commonly diagnosed in adults between 30 and 60 years old. Unlike many other conditions, there are no known lifestyle or environmental risk factors that increase your chance of developing achalasia, and it does not typically run in families.

How it's diagnosed

Diagnosing achalasia typically involves several tests to evaluate how your esophagus functions and to rule out other conditions. The primary diagnostic tools include esophageal manometry, barium swallow, and endoscopy, which help doctors visualize the esophagus and measure muscle activity.

The most definitive test for diagnosing achalasia is esophageal manometry. This procedure involves passing a thin, flexible tube with pressure sensors through your nose into your esophagus. As you swallow, the sensors measure the muscle contractions in your esophagus and the pressure within the lower esophageal sphincter (LES). Manometry can confirm achalasia by showing a lack of normal muscle contractions and a failure of the LES to relax. Another important test is a barium swallow, also known as an esophagram. 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 there's any narrowing or blockage at the LES. A classic sign of achalasia on a barium swallow is a "bird's beak" appearance, where the esophagus narrows significantly at the bottom. An upper endoscopy is also often performed. During this procedure, a thin, flexible tube with a camera (endoscope) is passed down your throat to examine the lining of your esophagus, stomach, and the beginning of your small intestine. This helps rule out other conditions that might cause similar symptoms, such as cancer or a stricture (narrowing) of the esophagus, and allows the doctor to directly view the LES.

Treatment options

Achalasia cannot be cured, but various treatments aim to relax or stretch the lower esophageal sphincter (LES) to allow food and liquids to pass more easily into the stomach. Treatment options range from medications and endoscopic procedures to surgery, with the choice depending on individual factors and severity.

Medications are sometimes used to help relax the LES, though they are generally less effective than other treatments. Nitrates (like isosorbide dinitrate) and calcium channel blockers (like nifedipine) can be taken before meals. These drugs work by relaxing smooth muscles, but their effects are often temporary, and they can have side effects such as headaches or low blood pressure. Endoscopic procedures are a common approach. Botulinum toxin (Botox) can be injected directly into the LES during an endoscopy. Botox temporarily paralyzes the muscles, causing the sphincter to relax. While effective for some, its effects typically last only about 6 to 12 months, requiring repeat injections. Pneumatic dilation is another endoscopic procedure where a balloon is inserted into the LES and inflated to stretch the muscle fibers. This procedure is often very effective but may need to be repeated over time. Surgical options offer more long-term relief. A Heller myotomy is a surgical procedure where the muscle fibers of the LES are cut, allowing food to pass more easily. This can be done minimally invasively (laparoscopically). 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, but they carry risks like gastroesophageal reflux disease (GERD) afterward.

Recovery & outlook

Achalasia is a lifelong condition, but with proper treatment, most people can achieve significant symptom relief and maintain a good quality of life. Regular follow-up with a doctor is important to monitor for potential complications and ensure the effectiveness of treatment over time.

There is currently no cure for achalasia, as the nerve damage in the esophagus cannot be reversed. However, available treatments are highly effective in managing symptoms by reducing the pressure in the lower esophageal sphincter (LES). The goal of treatment is to make swallowing easier and prevent food from accumulating in the esophagus. After treatment, many people experience a significant improvement in their ability to eat and drink, leading to weight gain and better nutrition. However, some individuals may still experience mild symptoms or require repeat treatments over time. The esophagus may not regain its normal ability to push food down, even if the LES is relaxed. Long-term monitoring is important for people with achalasia. There is a slightly increased, though still rare, risk of developing esophageal cancer, especially in those with long-standing disease. Regular endoscopic surveillance may be recommended by your doctor to check for any changes in the esophageal lining. With ongoing care, most people with achalasia can live full and active lives.

When to see a doctor

You should see a doctor if you experience persistent difficulty swallowing, especially if it affects both solids and liquids, or if you have unexplained weight loss, frequent regurgitation, or chest pain. Seek immediate medical attention for severe chest pain or if you are choking.

If you notice that food or liquids consistently get stuck when you swallow, or if you frequently regurgitate undigested food, it's important to talk to your doctor. These symptoms, especially when combined with unintentional weight loss, could indicate achalasia or another serious digestive condition that requires medical evaluation. Persistent chest pain that is not relieved by antacids and is accompanied by swallowing difficulties should also prompt a visit to your doctor. While it might be achalasia, chest pain can also signal other conditions, including heart problems, so a thorough check-up is essential to determine the cause. Seek emergency medical care immediately if you experience severe, sudden chest pain, especially if it spreads to your arm or jaw, or if you are choking and cannot clear your airway. These could be signs of a medical emergency that needs urgent attention.

Frequently asked questions

Is achalasia a serious condition?

Yes, achalasia is a serious chronic condition. While not immediately life-threatening, it can lead to significant problems if left untreated. These include severe difficulty eating, malnutrition, weight loss, and a risk of food entering the lungs (aspiration), which can cause pneumonia. It also carries a slightly increased, though rare, long-term risk of esophageal cancer, making regular medical follow-up important.

Can achalasia be cured?

No, achalasia cannot be cured because the nerve damage in the esophagus is permanent. However, various treatments are highly effective in managing the symptoms. These treatments aim to relax or open the lower esophageal sphincter, allowing food and liquids to pass into the stomach more easily, significantly improving a person's quality of life.

What foods should I avoid with achalasia?

There are no specific foods that everyone with achalasia must avoid, as individual tolerance varies. However, many people find that dry, tough, or sticky foods are harder to swallow. Eating slowly, chewing food thoroughly, and drinking plenty of water during meals can help. Some may find it easier to eat softer foods or pureed meals. Your doctor or a dietitian can provide personalized dietary advice.

Is achalasia hereditary or genetic?

Achalasia is generally not considered a hereditary or genetic condition. Most cases occur sporadically, meaning they develop without a clear family history. While research continues, there's no strong evidence to suggest it's passed down through families. The cause is believed to be related to nerve damage, possibly due to autoimmune factors or infections.

How common is achalasia?

Achalasia is a rare condition. It affects approximately 1 in 100,000 people each year. While it can occur at any age, it is most commonly diagnosed in adults between 30 and 60 years old. Due to its rarity, diagnosis can sometimes be delayed as symptoms may be mistaken for other, more common digestive issues.

What is the recovery time after achalasia surgery?

Recovery time after achalasia surgery, such as a Heller myotomy or POEM, varies but typically involves a hospital stay of 1-3 days. Most people can return to light activities within a week and resume normal activities within 2-4 weeks. A liquid or soft diet is usually recommended for a period after surgery, gradually advancing to solid foods as tolerated. Your surgeon will provide specific post-operative instructions.

Sources

• MedlinePlus — Achalasia
• Mayo Clinic — Achalasia
• Cochrane Library — Achalasia