Achalasia

Achalasia

What is Achalasia?

Achalasia is a rare disorder of the oesophagus (the tube that carries food and liquids from the mouth to the stomach) that makes it difficult for the oesophagus to move food into the stomach.

This happens because the lower oesophageal sphincter (LES)—the muscle at the bottom of the oesophagus—fails to relax properly. As a result, food and liquids can become trapped in the esophagus, causing discomfort and difficulty swallowing.

Achalasia is a chronic condition that typically progresses over time. Without treatment, it can lead to complications such as significant weight loss, malnutrition, and the development of an oesophageal dilation (widening) due to food buildup. While the exact cause is not well understood, achalasia is considered an autoimmune disease because the body’s immune system appears to attack the nerve cells in the esophagus, impairing its function.

Symptoms of Achalasia

Symptoms of achalasia often develop gradually and may worsen over time. The most common symptoms include:

  • Difficulty swallowing (dysphagia): A sensation of food being stuck in the chest or throat, making it hard to swallow both solids and liquids.
  • Regurgitation: The backflow of undigested food or liquids from the esophagus, especially when lying down or at night.
  • Chest pain: Discomfort or pain in the chest, often mistaken for heartburn or angina.
  • Heartburn: A burning sensation in the chest or throat, caused by food or acid trapped in the esophagus.
  • Weight loss: Unintentional weight loss due to difficulty swallowing and reduced food intake.
  • Coughing or choking: These can occur when food or liquids regurgitate and enter the windpipe.
  • Hiccups: Recurrent hiccups may develop due to irritation in the esophagus.

These symptoms can significantly impact a person’s quality of life, making it difficult to eat, drink, and maintain a healthy weight. If left untreated, achalasia can also increase the risk of oesophageal cancer.

Causes and Risk Factors

The exact cause of achalasia is not fully understood, but it is believed to result from damage to the nerves that control the muscles of the esophagus. This nerve damage causes the muscles of the oesophagus to lose their ability to contract and push food downward into the stomach. Factors that may contribute to achalasia include:

  • Autoimmune response: In some cases, achalasia is thought to be related to an autoimmune response, where the body mistakenly attacks its own nerve cells in the oesophagus.
  • Genetics: A family history of achalasia or other autoimmune diseases may increase the risk of developing the condition.
  • Infections: Certain viral infections may trigger the development of achalasia by damaging the nerves in the esophagus.

While achalasia can occur at any age, it is most commonly diagnosed in adults between the ages of 25 and 60. Both men and women are affected equally.

Diagnosis of Achalasia

Diagnosing achalasia typically involves a combination of medical history, physical exams, and specialized tests to evaluate the function of the esophagus and confirm the diagnosis. Common diagnostic tests include:

  • Oesophageal manometry: This test measures the pressure and muscle contractions in the oesophagus as it moves food to the stomach. In achalasia, the test shows poor movement of food and a failure of the lower esophageal sphincter to relax.
  • Barium swallow: In this imaging test, the patient drinks a barium solution, which coats the oesophagus and allows it to be seen clearly on X-rays. Achalasia often shows a characteristic "bird-beak" narrowing at the end of the oesophagus.
  • Endoscopy: A thin, flexible tube with a camera is inserted into the oesophagus to look for structural abnormalities, inflammation, or signs of cancer. This procedure can help rule out other causes of swallowing problems, such as tumors.
  • CT scan or MRI: These imaging tests may be used to rule out other causes of esophageal obstruction, such as tumors or external pressure from other organs.

Since achalasia can mimic other conditions, such as gastroesophageal reflux disease (GERD) or esophageal cancer, a thorough diagnostic process is essential for accurate diagnosis.

Treatment Options for Achalasia

While there is no cure for achalasia, treatments are available to help manage the symptoms and improve swallowing. The main goal of treatment is to relax or open the lower oesophageal sphincter, allowing food and liquids to pass into the stomach more easily. Common treatment options include:

  • Balloon dilation (pneumatic dilation): This non-surgical procedure involves inflating a balloon inside the oesophagus to widen the lower oesophageal sphincter. It is an effective treatment for many people, but the benefits may decrease over time, and repeated procedures may be necessary.
  • Botox injections: Botulinum toxin (Botox) can be injected into the lower esophageal sphincter to temporarily relax the muscle. This treatment is often used for people who are not candidates for surgery, but its effects usually last for only a few months.
  • Medications: In some cases, medications like nitrates or calcium channel blockers may be prescribed to relax the lower esophageal sphincter. However, medications are typically less effective than other treatments.
  • Heller myotomy: This minimally invasive surgical procedure involves cutting the muscles of the lower oesophageal sphincter to allow food to pass more easily. It is often combined with a procedure to prevent acid reflux, such as a fundoplication.
  • Peroral endoscopic myotomy (POEM): A newer, minimally invasive procedure in which the inner layer of the oesophageal muscle is cut through an endoscope to improve swallowing. This procedure has shown promising results and may become a preferred treatment option.

Long-term follow-up is necessary to monitor symptoms and ensure that treatments remain effective.

Long-term Management and Prognosis

With appropriate treatment, most people with achalasia can manage their symptoms and maintain a good quality of life. However, achalasia is a chronic condition, and symptoms may recur over time, requiring repeated treatments.

Regular follow-up appointments with a gastroenterologist are essential to monitor the effectiveness of treatments and to check for any complications, such as the development of oesophageal dilation or reflux disease.

People with achalasia are at a slightly higher risk of developing oesophageal cancer, so ongoing monitoring is recommended, especially if new symptoms arise.

FAQs

1. Is achalasia curable?
Achalasia is not curable, but treatments can manage the symptoms effectively and improve quality of life.

2. Can achalasia cause weight loss?
Yes, difficulty swallowing can lead to unintentional weight loss, especially if eating becomes too painful or uncomfortable.

3. Is achalasia painful?
Chest pain is a common symptom of achalasia, often caused by food getting stuck in the oesophagus or pressure from the muscle not relaxing properly.

4. How long do treatments for achalasia last?
The effectiveness of treatments like balloon dilation or Botox injections may last for several months to years, but repeated treatments are often necessary. Surgical options like Heller Myotomy and POEM may provide longer-lasting relief.

If you or someone you know is experiencing difficulty swallowing, chest pain, or unexplained weight loss, consult a healthcare professional. Early diagnosis and treatment of achalasia can help prevent complications and improve quality of life.

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