Achalasia: Symptoms, Causes, Diagnosis, Treatment and When to Seek Medical Care
Achalasia, also known as esophageal achalasia, achalasia cardiae, cardiospasm, or esophageal aperistalsis, is a rare disorder of the esophagus (food pipe) that makes it difficult for food and liquids to pass from the esophagus into the stomach. Normally, the muscles of the esophagus contract in a coordinated manner to push food toward the stomach. At the lower end of the esophagus is a ring of muscle called the lower esophageal sphincter (LES). The LES normally relaxes when a person swallows, allowing food to enter the stomach. In achalasia, the esophagus loses its normal ability to move food downward, and the LES does not relax properly during swallowing. As a result, food and liquids can remain in the esophagus and may eventually cause the esophagus to become enlarged.
The exact cause of primary achalasia is not fully understood. Achalasia occurs when nerve cells in the wall of the esophagus are damaged or lost. These nerves normally coordinate esophageal muscle contractions and relaxation of the lower esophageal sphincter. Because of this nerve damage:
The esophagus cannot contract normally to push food toward the stomach.
The lower esophageal sphincter does not relax properly during swallowing.
Food and liquid can accumulate inside the esophagus.
The reason these nerve cells become damaged is often unknown. Possible factors that have been investigated or associated with achalasia include:
Autoimmune mechanisms
Genetic or hereditary factors in some cases
Previous infections or other environmental factors
A rare parasitic infection called Chagas disease, caused by Trypanosoma cruzi, can also damage the nerves of the digestive tract and produce achalasia-like symptoms. It is more common in certain parts of Latin America.
Esophageal cancer is not considered a usual cause of primary achalasia. However, a tumor near the junction of the esophagus and stomach can sometimes cause symptoms that resemble achalasia. This is known as pseudoachalasia. Doctors may therefore investigate other causes, particularly when symptoms develop rapidly or when there is significant unexplained weight loss.
Achalasia can occur at any age but is most commonly diagnosed in adults. It affects both men and women. Having a family member with achalasia may slightly increase the likelihood of developing the condition, although most cases occur without a clear family history.
In type II achalasia, the esophagus does not produce normal swallowing contractions but develops increased pressure throughout the esophagus during swallowing.
Type III, also called spastic achalasia, involves abnormal or premature contractions of the esophageal muscles. The type of achalasia can help doctors determine which treatment may be most appropriate.
An upper gastrointestinal endoscopy (EGD) uses a thin, flexible tube with a camera to examine the esophagus, stomach, and upper part of the small intestine. It can help doctors:
High-resolution esophageal manometry is one of the most important tests for diagnosing achalasia.During this test, a thin tube containing pressure sensors is passed through the nose into the esophagus. The test measures the pressure and muscle activity of the esophagus while the person swallows. It can show:
Failure of the lower esophageal sphincter to relax properly
During a barium swallow, the patient drinks a liquid containing barium while X-ray images are taken. The test can show difficulty in the passage of food or liquid through the lower esophagus. A narrowed lower esophageal opening with dilation of the esophagus above it may produce the classic “bird-beak” appearance.
Achalasia currently cannot usually be cured by restoring the damaged esophageal nerves. However, treatment can improve the passage of food and liquids into the stomach and relieve symptoms. Treatment is aimed primarily at reducing the pressure of the lower esophageal sphincter. Depending on the patient’s age, symptoms, achalasia type, overall health, and previous treatments, options may include:
During pneumatic dilation, a balloon is inserted into the lower esophageal sphincter and inflated. This stretches or disrupts some of the muscle fibers, making it easier for food to pass into the stomach. The procedure may provide significant symptom relief, although some patients may require repeat treatment.
Laparoscopic Heller myotomy is a surgical procedure in which the muscles of the lower esophageal sphincter are cut to allow food to pass more easily into the stomach. An anti-reflux procedure, such as partial fundoplication, may be performed at the same time to reduce the risk of acid reflux.
Peroral endoscopic myotomy (POEM) is a minimally invasive endoscopic procedure. A flexible endoscope is passed through the mouth, and the doctor creates a small tunnel within the wall of the esophagus before cutting selected muscle fibers of the lower esophageal sphincter. POEM is an important treatment option for achalasia and may be particularly useful for some patients with spastic or type III achalasia.
Botulinum toxin (Botox) can be injected into the lower esophageal sphincter to temporarily reduce muscle contraction. It may be considered for people who are not good candidates for more definitive treatments. However, its effect is generally temporary, and repeated injections may be necessary.
Certain medicines can temporarily relax the lower esophageal sphincter. However, medication is generally less effective than procedures such as pneumatic dilation, Heller myotomy, or POEM. Your doctor will determine the most appropriate treatment based on your individual condition.
Without appropriate management, retained food and liquid can remain in the esophagus for prolonged periods. Possible complications include:
Progressive enlargement of the esophagus
Regurgitation of food
Aspiration into the lungs
Aspiration pneumonia
Malnutrition
Dehydration
Significant weight loss
Reduced quality of life
People with long-standing achalasia may also have an increased risk of certain esophageal cancers. The overall risk remains relatively low, and routine cancer surveillance is individualized because there is no universally accepted surveillance schedule.
Consult a healthcare professional if you experience persistent or progressive difficulty swallowing, particularly if both solid foods and liquids are becoming difficult to swallow. Seek prompt medical attention if swallowing problems are associated with:
Significant or unexplained weight loss
Repeated choking
Difficulty breathing
Persistent vomiting or regurgitation
Severe chest pain
Signs of dehydration
Recurrent chest infections or pneumonia
Sudden severe chest pain, severe breathing difficulty, or other potentially life-threatening symptoms require urgent medical evaluation, because they may have causes unrelated to achalasia.
There is currently no treatment that restores the damaged nerves of the esophagus. However, procedures such as pneumatic dilation, Heller myotomy, and POEM can significantly improve the passage of food and relieve symptoms in many patients.
No. Achalasia and gastroesophageal reflux disease (GERD) are different conditions. Achalasia occurs because the lower esophageal sphincter does not relax normally and the esophagus does not move food properly. However, reflux can occur after some achalasia treatments.
Yes. Food, saliva, or liquid retained in the esophagus can come back up, particularly when lying down, and may enter the airways. This can cause coughing and increase the risk of aspiration.
Achalasia generally does not resolve on its own. Symptoms may fluctuate, but the underlying problem with esophageal movement and lower esophageal sphincter relaxation usually persists.
Achalasia can cause significant complications if left untreated, including aspiration, malnutrition, dehydration, and progressive enlargement of the esophagus. Appropriate evaluation and treatment can substantially improve symptoms and quality of life.
This article is intended for general informational and educational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Achalasia can have many causes, some of which may require prompt medical evaluation. If you have persistent or worsening swallowing difficulties, unexplained weight loss, choking, breathing problems, severe chest pain, or other concerning symptoms, consult a qualified healthcare professional. Do not start, stop, or change any treatment based solely on information provided in this article.
