Achalasia – a functional disorder of the esophagus characterized by changes in the mucosa and narrowing

Achalasia is a rare, chronic disorder of the esophagus. It involves a dysfunction of the muscles and nerves responsible for moving food from the throat to the stomach. In a healthy esophagus, a wave-like movement—known as peristalsis—facilitates this transport. At the same time, a ring-shaped muscle at the lower end of the esophagus, known as the lower esophageal sphincter, opens.

In achalasia, it is precisely this function that is impaired:

• Peristalsis does not work or works only to a limited extent
• The sphincter at the lower end of the esophagus does not open properly

As early as the 17th century, Thomas Willis first described the symptoms of the condition now known as idiopathic achalasia. In this form, food remains in the esophagus for longer because the nerves in the esophagus lose their function and the transport to the stomach is disrupted.

The condition affects about 1 in 100,000 people per year. It can occur at any age but is most commonly seen between the ages of 30 and 60. For those affected, the condition often causes significant limitations in daily life—when eating, drinking, and sometimes even sleeping.

In advanced stages of achalasia, the swallowing disorder can be so severe that even liquids have difficulty passing through. An endoscope is often used during diagnosis to visualize changes in the esophagus and rule out other causes. During swallowing, it usually becomes apparent that the lower esophageal sphincter does not open, causing food to become trapped—a typical sign of the condition. In some cases, targeted dilation can help widen the narrowing and alleviate symptoms.

Schematic representation of achalasia: The esophagus is dilated, while the lower esophageal sphincter (LES) does not open properly. As a result, food becomes trapped before the narrowed passage to the stomach.

Achalasia develops gradually. Many people affected do not seek medical help until late in the course of the disease—often when symptoms are already severe. The main symptoms are:

• Difficulty swallowing (dysphagia)—with both solid and liquid foods
• A feeling of pressure or pain behind the breastbone
  
• Reflux of undigested food into the mouth (regurgitation)
• Weight loss due to difficulty eating
• A cough or nighttime cough caused by swallowed food
• Occasional nausea or vomiting

These symptoms do not occur constantly but fluctuate—which makes early diagnosis even more difficult.

The symptoms usually worsen when swallowing, as food becomes trapped in the esophagus and reaches the stomach only after a delay. Reflux—the backward flow of food or stomach acid—often occurs, which can cause a burning sensation or coughing. Normally, food should pass from the esophagus into the stomach, but in this condition, that process is only partially effective. 

Endoscopic examination often reveals a marked dilation of the esophagus in advanced achalasia, while the junction with the stomach remains narrowed. These typical changes help to definitively diagnose the condition.

The exact cause of achalasia is not yet fully understood. Experts believe it is a neurodegenerative disease—that is, a disorder in which certain nerve cells in the esophagus die off. These cells are responsible for controlling muscle movement.

Possible triggers or contributing factors:

• Autoimmune reactions: The immune system mistakenly attacks the body’s own nerve cells.
• Viral infections: Such as a history of herpes or measles viruses.
• Genetic predisposition: In very rare cases, it runs in families.

Achalasia is not contagious and occurs regardless of diet or lifestyle.

In rare cases, achalasia is a consequence of other conditions, such as a tumor in the esophagus or stomach. This form is called secondary achalasia. It occurs more frequently in older adults.

If you have persistent difficulty swallowing or unexplained chest pain, a thorough evaluation is important. The diagnosis is made by specialists in gastroenterology (the study of diseases of the stomach and intestines). The following methods are used:

• Gastroscopy: During this procedure, the doctor examines the esophagus and the entrance to the stomach using a camera. This allows other causes to be ruled out.
• Manometry: This specialized pressure measurement shows how well the muscles of the esophagus are functioning and whether the lower esophageal sphincter opens as intended.
• Barium swallow: In this test, the patient drinks a contrast liquid, and its progress is tracked on an X-ray. Typical findings in achalasia: a narrowed entrance to the stomach with a dilated esophagus.

Treatment aims to facilitate the passage of food into the stomach. While the underlying condition cannot be cured, symptoms can be effectively alleviated. The following therapies are available:

• Balloon dilation: The doctor dilates the sphincter muscle using a balloon. This is a minimally invasive procedure performed under short-term anesthesia.
• Medication: Drugs such as calcium channel blockers or nitrates can reduce muscle tension—though their effect is limited.
• Botulinum toxin injection: The neurotoxin relaxes the sphincter muscle. The effect usually lasts only a few months.
• Surgical myotomy: In this procedure, the surgeon makes a precise incision through the spasmodic muscle. This method—often referred to as a Heller myotomy—yields very good long-term results.
• Peroral endoscopic myotomy (POEM): A modern, endoscopic variant of myotomy that does not require a skin incision.

The choice of treatment depends, among other factors, on the patient’s age, general health, and the severity of the condition. The decision is made by the treating specialist—usually a gastroenterologist or a surgeon specializing in esophageal diseases.

Treatment for achalasia depends on the severity of symptoms and the stage of the disease. The goal is to permanently dilate the passage between the esophagus and the stomach and to relieve the abnormal contraction of the smooth muscle. A common method is pneumatic dilation, in which the lower esophageal sphincter is stretched using a balloon to improve the flow of food.

If this form of treatment for achalasia is insufficient, a surgical procedure such as Heller myotomy or the endoscopic POEM technique may be performed. In these procedures, the muscle is surgically severed in a targeted manner to facilitate passage and provide long-term relief from symptoms. Both procedures are now established and highly successful methods in the treatment of achalasia.

Achalasia is a chronic functional disorder of the esophagus caused by insufficient relaxation of the lower esophageal sphincter. In so-called primary achalasia, there is no identifiable underlying disease—it is usually caused by the degeneration of nerve cells that control the movement of the esophagus.

If the condition is not detected in time, a condition known as megaesophagus can develop—a massive dilation of the esophagus in which food can barely reach the stomach. In such cases, symptoms such as difficulty swallowing, regurgitation, or chest pain are particularly pronounced.

Achalasia is diagnosed through specialized tests such as manometry, barium swallow, and endoscopy. The term “stages of achalasia” is also used in international guidelines and describes the different stages of this condition, which can range from mild functional impairment to marked dilation of the esophagus.

If left untreated, achalasia usually progresses slowly but steadily. The esophagus dilates, and food increasingly backs up, which can lead to further complications—such as inflammation or significant weight loss.

With the right treatment, however, quality of life improves significantly. Many patients report considerable relief from their symptoms after surgery or balloon dilation. Nevertheless, regular follow-up care is important, as symptoms may recur over time. In addition, long-standing achalasia carries a slightly increased risk of esophageal cancer—which is why regular checkups are recommended. The goal is not only to relieve symptoms but also to achieve lasting good health. 

Although achalasia is rare, it is highly treatable. The key is for the condition to be detected early and treated by a specialist. If you or someone you know is experiencing difficulty swallowing or unexplained chest discomfort, do not hesitate to consult a gastroenterologist. Modern medicine offers many effective methods to alleviate symptoms and improve quality of life.

Achalasia is a functional disorder of the esophagus in which muscle activity and the sphincter mechanism at the junction with the stomach are impaired. It affects only a few people each year and is therefore considered a rare condition, though it occurs more frequently in certain patient groups than in the general population.

Typical symptoms include pain when swallowing, a feeling of pressure behind the breastbone, and the sensation that food is stuck in the esophagus. These symptoms of achalasia can severely impact daily life, but they can be significantly alleviated with targeted treatment.

What are the typical symptoms of achalasia?
The symptoms of achalasia usually manifest as difficulty swallowing, pressure or pain behind the breastbone, and the sensation that food is not being properly transported to the stomach. Many people with the condition also report a coughing sensation or nighttime regurgitation of undigested food.

How does the esophagus normally function, and what goes wrong in achalasia?
In healthy people, coordinated movement of the esophagus ensures that food is transported to the stomach. In achalasia, the transition between the esophagus and the stomach is disrupted because the sphincter muscle does not open properly—food accumulates and remains in the esophagus.

What role does the myenteric plexus play in achalasia?
The myenteric plexus is a network of nerves in the esophagus that controls the movement of the smooth muscles. In achalasia, these nerves are damaged, leading to impaired muscle coordination and a failure of the lower esophageal sphincter to open.

How is achalasia examined or treated endoscopically?
Endoscopic procedures allow for direct visualization of the esophagus and identification of narrowings. If necessary, a therapeutic procedure such as balloon dilation or myotomy can be performed during endoscopy to improve the passage of food into the stomach.

What happens during a cardiomyotomy, and when is it necessary?
A cardiomyotomy is a surgical procedure in which the muscle layer at the lower end of the esophagus is cut. It is performed when other treatments are not sufficiently effective and the junction between the esophagus and the stomach must be permanently relaxed to effectively relieve symptoms.

• Achalasia: A disorder of the esophageal muscles characterized by impaired relaxation of the lower esophageal sphincter
• Esophagus: The passageway connecting the throat to the stomach through which food is transported
• Manometry: A pressure measurement used to assess the function of the esophagus
• Myotomy: Incision of a muscle to relax it
• Gastroenterology: Medical specialty focusing on diseases of the stomach and intestines