Definition

Achalasia is a rare condition characterized by the impaired movement of the esophageal muscles and the lower esophageal sphincter, preventing food from passing into the stomach. The esophagus, or gullet, connects the mouth to the stomach, and its primary function is to push food downward using a squeezing and pushing movement known as peristalsis. In individuals with achalasia, this peristaltic movement is absent, hindering the passage of food.

At the lower end of the esophagus, where it meets the stomach, there is a sphincter muscle that serves as a valve, preventing stomach acid from easily flowing back into the esophagus. This sphincter opens when food is swallowed, allowing it to pass from the esophagus into the stomach.

Causes

The precise cause of achalasia remains unclear, though it is suspected to result from the loss of nerve cells in the esophagus. Autoimmune disorders have also been proposed as a potential cause. In rare instances, achalasia is linked to genetic disorders or infections.

In achalasia, the lower esophageal sphincter becomes rigid and fails to open when swallowing. This disruption in peristalsis, combined with sphincter malfunction, leads to food accumulating in the esophagus and sometimes flowing back (reflux). Over time, this can cause the esophagus to enlarge. The paralysis of the esophageal muscles in achalasia is due to nerve dysfunction within the esophagus.

Food buildup in the esophagus may ferment and regurgitate into the mouth, causing a bitter taste. People sometimes mistake achalasia for gastroesophageal reflux disease (GERD), but the difference lies in the origin of the regurgitated material. In achalasia, food comes from the esophagus, while in GERD, both food and stomach acid rise from the stomach.

Risk Factors

Achalasia affects both men and women and is exceedingly rare in children, accounting for less than 5% of cases in individuals under 16 years of age. The condition is most common in adults, typically manifesting between the ages of 30 and 60.

Given its rarity, extensive research on achalasia is limited. Some identified risk factors include:

• Spinal cord injury
• Previous endoscopic sclerotherapy for treating bleeding or enlarged blood vessels
• History of viral infections
• Autoimmune diseases
• Middle age and older adulthood

Symptoms

Symptoms of achalasia typically develop gradually and worsen over time. Common signs and symptoms include:

• Difficulty swallowing (dysphagia), where food or drink feels stuck in the throat
• Regurgitation of food or saliva
• Burning sensation in the chest
• Belching
• Intermittent chest pain
• Nighttime coughing
• Pneumonia (due to food entering the lungs)
• Weight loss
• Vomiting

Diagnosis

Achalasia can be easily misdiagnosed as it shares symptoms with other digestive disorders. To accurately diagnose achalasia, doctors may recommend several tests:

• Esophageal manometry: This test evaluates muscle contractions in the esophagus during swallowing, the coordination and strength of esophageal muscles, and how effectively the lower esophageal sphincter opens. It is particularly useful in diagnosing esophageal motility disorders.
• Upper gastrointestinal X-ray (esophagram): Using X-rays, this test examines the esophagus, stomach, and upper intestine. Before the X-ray, the patient drinks a chalky liquid that coats the digestive tract, allowing the doctor to better visualize the organs. In some cases, swallowing barium pills before the X-ray can help reveal blockages in the esophagus.
• Upper gastrointestinal endoscopy: A thin, flexible tube with a camera and light is inserted through the mouth to examine the esophagus and stomach. An endoscope is useful in detecting blockages in the esophagus, particularly if symptoms or barium test results suggest such a possibility. Additionally, an endoscopy can be used to obtain tissue samples (biopsy) to investigate complications, such as Barrett's esophagus, which involves damage to the esophageal lining.

Management

The treatment for achalasia is aimed at relaxing or enlarging the lower esophageal sphincter to facilitate the movement of food and fluids into the stomach. The specific treatment depends on factors such as age, overall health, and the severity of the condition.

Non-surgical treatments

Non-surgical treatment options include:

• Pneumatic dilation (balloon dilation): This procedure involves inserting a balloon, via an endoscope, into the esophageal sphincter and inflating it to enlarge the opening. It is often performed on an outpatient basis. The procedure may need to be repeated if the sphincter does not fully open, and nearly one-third of patients require retreatment within five years. The procedure is done under sedation or with the aid of sleeping medication.
• Botox injections: Botox, a bacterial toxin with muscle-relaxing properties, can be injected directly into the esophageal sphincter using an endoscopic needle. Although the injections need to be repeated, they can make future surgical interventions more complicated. Botox is generally recommended for patients who are not suitable for pneumatic dilation or surgery due to age or health conditions. The effect of Botox typically lasts for less than six months. Improvement following the injections can also confirm the diagnosis of achalasia.
• Medications: Muscle relaxants, such as nitroglycerin or nifedipine, may be prescribed before meals. These drugs, however, have limited effectiveness and may produce significant side effects. Medications are usually considered when pneumatic dilation, surgery, or Botox have not been effective or are not suitable options. Medication use for achalasia is rare.

Surgical treatments

Surgical options for achalasia include:

• Heller myotomy: In this procedure, the surgeon cuts the muscles at the lower esophageal sphincter to allow food to pass more easily into the stomach. It is typically performed using minimally invasive laparoscopic techniques. Some patients may develop gastroesophageal reflux disease (GERD) after the procedure. To mitigate this, a fundoplication procedure is often performed simultaneously. Fundoplication involves creating an anti-reflux valve to prevent GERD, typically done using a minimally invasive approach such as laparoscopy.
• Peroral endoscopic myotomy (POEM): This technique involves inserting an endoscope through the mouth to make an incision in the esophageal lining, after which the lower esophageal sphincter muscles are cut. POEM can also be combined with fundoplication to prevent GERD. For patients who develop GERD post-surgery, oral medications for stomach acid are sometimes prescribed.

Complications

If achalasia remains untreated, it can lead to serious complications, including:

• Megaesophagus: An abnormally enlarged and weakened esophagus.
• Esophagitis: Inflammation and irritation of the esophagus.
• Esophageal perforation: A hole in the esophageal wall, which occurs when the esophagus becomes too weak and food accumulates, preventing passage into the stomach. This condition requires urgent treatment to prevent infection.
• Aspiration pneumonia: Occurs when food and fluids trapped in the esophagus are inhaled into the lungs.
• Esophageal cancer: A potential long-term complication of untreated achalasia.

Prevention

Currently, there is no known method to prevent achalasia. Even with treatment, symptoms may return. However, certain lifestyle adjustments can help reduce the risk of recurrence or worsening of achalasia symptoms:

• Eat smaller meals
• Avoid foods that can trigger reflux, such as spicy and acidic items
• Quit smoking if you are a smoker
• Sleep in a slightly elevated position to prevent stomach acid from rising into the esophagus

People diagnosed with achalasia should eat slowly, thoroughly chew their food, and drink ample fluids during meals. It is also important to avoid eating shortly before bedtime. Sleeping with your head slightly raised can help gravity clear the esophagus and reduce the likelihood of reflux.

Foods that should be avoided include citrus fruits, alcohol, coffee, chocolate, and tomato-based sauces, as these can exacerbate reflux. Fried and spicy foods may also irritate the digestive system, worsening symptoms.

Though there is no specific dietary plan for people with achalasia, research suggests that a low-fiber diet can help reduce food buildup in the esophagus, making it easier for food to pass through.

When to See a Doctor?

Many individuals do not experience severe symptoms at the onset of achalasia and may not seek immediate medical care. However, it is essential to treat achalasia to avoid serious complications. If you experience any of the symptoms described above, consult a doctor to determine whether they are due to achalasia or another medical condition.

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