Achalasia: Symptoms, Causes, and Treatment

The oesophagus, which is the tube that transports food from the neck to the stomach, is impacted by the uncommon but dangerous achalasia syndrome.

In achalasia, the LES (lower esophageal sphincter) does not relax during swallowing. The majority of the time, this muscular ring blocks the passage of food down through the esophagus from the stomach, but it opens during the process of swallowing. Food may reflux back up into the esophagus if it doesn’t open up.

This condition’s symptoms usually start slowly and might worsen with time. Food and liquid swallowing may eventually become challenging, although therapy can assist.

What is Achalasia?

Achalasia is a condition that disrupts the normal swallowing process by affecting the esophagus, the passage that carries food from the mouth to the stomach. Food and liquids make it difficult for the esophageal muscles to push into the stomach due to damaged nerves. After that, food builds up in the esophagus, where it occasionally ferments and flows back up into the mouth and is bitter. Achalasia is a rather uncommon disorder. It is sometimes misdiagnosed as gastroesophageal reflux disease (GERD). However, with achalasia, the food comes from the esophagus and in GERD, the material originates from the stomach.

There is no cure for achalasia symptoms. When the esophagus is injured, the muscles cannot function correctly again. However, endoscopy, minimally invasive treatment, or surgery may typically be used to control symptoms of achalasia.

Symptoms of Achalasia

Most of the time, the symptoms of achalasia develop gradually and get worse with time. Among the warning signs and symptoms are:

• Dysphagia is the most prevalent presenting characteristic. Solids are more impacted by this than liquids or soft foods
• 80–90% of patients may have regurgitation
• Chest soreness or discomfort that affects 25–50% of people. It is referred to as retrosternal and happens after eating
• Heartburn is a common condition that therapy may make worse
• Dry mouth
• Dry eyes
• Severe soreness or discomfort following a meal
• A decrease in weight may indicate cancer (may co-exist)
• One sign of the condition later on is nocturnal cough, which can even include breathing in refluxed material

Causes of Achalasia

Although the precise etiology of achalasia is unknown, many experts think a mix of variables, such as:

• Genetics or family history
• An autoimmune disease, in which the immune system of your body unintentionally targets healthy cells. The advanced symptoms of achalasia are frequently attributed to the degeneration of nerves in the esophagus.
• Harm to the LES or esophageal nerves
• There is a theory that viral infections may trigger autoimmune reactions, particularly in those with a higher genetic susceptibility to the disorder
• Achalasia has also been connected to the occurrence of Chagas disease, an uncommon parasitic illness that mostly affects individuals in Mexico, South America, and Central America.

Types of Achalasia

Achalasia is divided into three types based on the pattern of esophageal muscle activity. Each type presents distinct characteristics, which can help guide treatment options:

• Type I (Classic Achalasia): In this form, the esophagus muscles show minimal to no contractions. Food moves down the esophagus mainly due to gravity rather than muscle movement. This type often develops gradually and may lead to significant esophageal dilation over time.
• Type II (Achalasia with Pan-Pressurization): This type involves uniform pressure buildup throughout the esophagus, causing the entire esophageal muscle to contract simultaneously. It is the most common form of achalasia and is often associated with more pronounced symptoms, such as difficulty swallowing and chest discomfort.
• Type III (Spastic Achalasia): Also known as spastic achalasia, this form is characterized by abnormal, spasm-like contractions in the lower part of the esophagus near the stomach. These contractions can be intense, often resulting in severe chest pain that may resemble a heart attack.

Identifying the specific type of achalasia is essential for determining the most effective treatment plan. Each type may respond differently to therapies such as medication, balloon dilation, or surgical intervention.

Complications of Achalasia

If left untreated, achalasia can lead to several complications that may impact overall health. These complications are often linked to food buildup in the esophagus, which can result in regurgitation and other serious conditions. Some potential complications include:

• Aspiration Pneumonia: Regurgitated food or acid from the esophagus can accidentally enter the lungs, causing aspiration pneumonia. This condition can lead to persistent cough, chest discomfort, and breathing difficulties.
• Weight Loss and Malnutrition: Difficulty swallowing (dysphagia) may result in reduced food intake, leading to unintended weight loss and nutritional deficiencies over time.
• Esophageal Dilation and Food Impaction: Prolonged food buildup can cause the esophagus to widen (dilate), which may worsen swallowing difficulties. In some cases, food may become lodged in the esophagus, requiring medical intervention.
• Esophageal Perforation: Chronic pressure and inflammation can weaken the esophageal wall, increasing the risk of a tear (perforation). This condition can cause severe chest pain, fever, and infection, requiring urgent medical care.
• Increased Risk of Esophageal Cancer: Individuals with prolonged achalasia are more prone to developing esophageal cancer, particularly squamous cell carcinoma. Routine medical assessments and ongoing consultations with healthcare professionals can help identify possible concerns early.

Managing achalasia through timely diagnosis, lifestyle adjustments, and appropriate treatments can reduce the risk of these complications and improve overall well-being.

Diagnosis of Achalasia

Diagnosing achalasia involves a combination of physical examination, symptom analysis, and specialized tests to assess esophageal function. Since achalasia symptoms can resemble other digestive disorders, accurate diagnosis is crucial. Common diagnostic methods include:

• Esophageal Manometry: This is considered the most reliable test for diagnosing achalasia. It measures the pressure and movement of muscles in the esophagus during swallowing. The test identifies issues such as weak muscle contractions or the lower esophageal sphincter (LES) failing to relax properly.
• Barium Swallow Test: In this imaging test, patients swallow a barium solution that coats the esophagus lining. X-ray imaging is performed to track the barium’s movement as it passes through the esophagus. This test can reveal narrowing at the lower end of the esophagus, often referred to as a “bird’s beak” sign a common indicator of achalasia.
• Upper Endoscopy (Esophagogastroduodenoscopy – EGD): A thin, flexible tube with a camera, called an endoscope, is passed through the mouth to examine the esophagus and stomach. This test helps rule out blockages, strictures, or tumors. In some cases, a biopsy may be performed during endoscopy to assess abnormal tissues.
• pH Monitoring Test: This test measures acid levels in the esophagus over a 24-hour period. While it is typically used to diagnose acid reflux, it may also help distinguish achalasia from other conditions that cause similar symptoms.
• Functional Luminal Imaging Probe (FLIP) Technology: FLIP is an advanced diagnostic tool used to evaluate esophageal motility and pressure. It can help confirm an achalasia diagnosis when other tests provide inconclusive results.

Early diagnosis is vital in managing achalasia effectively. If you experience persistent swallowing difficulties, chest discomfort, or regurgitation, consulting a healthcare provider for a thorough evaluation is recommended.

Achalasia Treatment

Even though achalasia has no known cure, there are several therapy alternatives that can help individuals manage their symptoms and live better.

• Modifications in Lifestyle: Changing one’s way of life can be very important for controlling achalasia. These include digesting food properly, eating smaller, more often meals, and avoiding items that make achalasia symptoms worse, such as hot or fatty foods. It’s also advised to avoid lying down right away after eating and to raise the head of the bed while you sleep.
• Medications: To facilitate better swallowing and assist relax the esophageal muscles, medication may also be recommended. Lower esophageal sphincter pressure is often achieved by the use of calcium channel blockers. While headaches, lightheadedness, and flushing are possible adverse effects, these drugs can help reduce achalasia symptoms.
• Surgical Intervention: When medication and lifestyle changes are not enough to relieve symptoms, surgical treatments are frequently taken into consideration. A deflated balloon is placed into the esophagus and subsequently inflated to extend the constricted region during balloon dilation, a minimally invasive treatment. This widens the esophagus, which gives relief from difficulty in swallowing. Although balloon dilation can offer relief right away, the results might not last long, and more than one surgery might be required.
• Myotomy: A myotomy is an additional surgical procedure that includes severing the lower esophageal sphincter’s muscles to facilitate the passage of food and liquids into the stomach. Both laparoscopic and open surgery are options for this. While a myotomy can help with swallowing function, there is a risk of developing gastroesophageal reflux disease (GERD) because the lower esophageal sphincter’s capacity to stop stomach acid from flowing back into the esophagus is compromised.

To sum up, achalasia can be treated with medication, lifestyle changes, and surgical procedures, including myotomy and balloon dilatation. Every achalasia treatment strategy has advantages and disadvantages, and the best course of action is determined by the intensity of the patient’s symptoms, personal characteristics, and the healthcare provider’s experience. To choose the best course of action for their rare condition, patients should talk through these alternatives with their medical team.

Conclusion

With only one case occurring in every 100,000 persons, achalasia is regarded as an uncommon illness. Although it may happen at any age, individuals between the ages of 25 and 60 are the ones who are diagnosed with it the most frequently. Although the precise etiology of achalasia is unknown, nerve degeneration in the esophagus is thought to play a role.

Achalasia can have a big influence on day-to-day living. Malnutrition, dehydration, and weight loss may result from swallowing difficulties. Chest discomfort, regurgitation of undigested food, and a persistent sense of heaviness are possible symptoms for patients. In addition to limiting the opportunity to enjoy meals with family and friends, the illness may also result in social and emotional distress. For people with achalasia, controlling their symptoms and enhancing their quality of life depends heavily on an early diagnosis and suitable therapy.

Frequently Asked Questions