Definition

Achalasia is a disease of the myenteric plexus (the nerves around the esophagus) that affects the function of the esophageal body and the lower esophageal sphincter (the valve between the esophagus and stomach). Achalasia is characterized by failure of the esophageal body peristalsis (the motion of the esophagus that pushes food toward the stomach) and by failure of relaxation of the lower esophageal sphincter (the valve between the esophagus and the stomach does not relax or open up).

When the esophagus cannot function well to push the food toward the stomach and the lower esophageal sphincter cannot relax or open, the food cannot pass form the esophagus to the stomach. Therefore, patients present with dysphagia (difficulty swallowing) or regurgitation (return of the food back into the mouth).

Achalasia is present in one to three per 100,000 persons in the Western world and most commonly affects individuals between the ages of 20 and 40 years. If left untreated, persistent achalasia may cause the esophagus to become dilated (enlarged) and eventually stop functioning. Patients with untreated achalasia have higher chances of developing esophageal cancer (squamous cell carcinoma).

Vigorous achalasia: In a subgroup of patients with achalasia, the esophageal contractions have very high amplitude (pressure). Similar to patients with achalasia, patients with vigorous achalasia have simultaneous esophageal contractions (they all happen at the same time). Plus, the lower esophageal sphincter does not open. Therefore, patients with vigorous achalasia present with symptoms similar to those of patients with achalasia. In addition, they may have severe chest pain due to the elevated pressure in the esophageal body. The evaluation and treatment of these patients is the same as patients with achalasia.

Causes 

Causes of achalasia are not well understood. Factors such as viral or parasitic infections have been considered as potential causes.

Symptoms

• Dysphagia (difficulty swallowing)
• Regurgitation of food and fluid after eating or during the night
• Chest pain and/or pressure after eating
• Weight loss
• Chronic cough due to aspiration of food or fluid from the esophagus into the trachea (windpipe)
• Pneumonia due to aspiration of food or fluid from the esophagus into the trachea (windpipe)

Diagnosis

• Videoesophagram: This study shows the anatomy and the function of the esophagus and the gastroesophageal junction. In patients with achalasia, the esophagus is dilated, the lower esophageal sphincter does not open, and the gastroesophageal junction is tight and is seen as a narrow point.

A picture of a patient with a dilated esophagus on Barium esophagram is shown in the image below.

• Esophageal motility study: This study is the most important study to diagnose achalasia. In patients with achalasia all the esophageal contractions are of low amplitude (pressure) and are simultaneous (happen at the same time), therefore, there is no peristalsis (coordinated function to push the food toward the stomach) in the esophageal body. The lower esophageal sphincter (the valve between the esophagus and the stomach) does not open.

The image below illustrates an esophageal motility study (high-resolution manometry) in two swallows in a patient with achalasia. Each color corresponds to a certain pressure in the esophagus.

High Resolution Manometry in a Patient with Achalasia

In patients with vigorous achalasia, in contrast to patients with achalasia, all the esophageal contractions are of high amplitude (pressure); but similar to patients with achalasia, all the contractions are simultaneous (happen at the same time). Therefore, there is no peristalsis (coordinated function to push food toward the stomach) in the esophageal body. The lower esophageal sphincter (the valve between the esophagus and the stomach) does not open.

The image below shows esophageal contractions on an esophageal motility study (high-resolution manometry) in a patient with vigorous achalasia. Each color corresponds to a certain pressure in the esophagus.

The image below is a simple schematic presentation of esophageal contractions on an esophageal motility study (high-resolution manometry) in a patient with vigorous achalasia.

• Upper endoscopy: In patients with achalasia, upper endoscopy shows a dilated esophagus with a narrow gastroesophageal junction. It is mandatory to perform an upper endoscopy to confirm that the narrowing of the gastroesophageal junction is not caused by other diseases such as stricture or cancer.


• Computed tomography (CT) scan: A CT scan uses X-rays to make detailed pictures of structures inside the body. This study is not routinely done for diagnosis of achalasia but many patients present with dilated esophagus, which is visible on a CT scan of the chest as shown in the images below.

Treatment

The goal of therapy is to obtain relief of dysphagia (difficulty swallowing) by opening the lower esophageal sphincter (the valve between the esophagus and the stomach) while preventing gastroesophageal reflux.

Several treatments are available to improve the symptoms in patients with achalasia and can be chosen based on a patient’s overall health condition and preferences. There is no specific therapy that can fix the underlying process (disease of the nerves around the esophagus). None of the treatment options can restore the normal muscle activity of the esophageal body and the lower esophageal sphincter. All the treatment options are directed to improve the symptoms by relieving the obstruction at the junction between esophagus and stomach to allow the food to pass from the esophagus into the stomach.

If left untreated, persistent achalasia may cause the esophagus to become dilated (enlarged) and eventually stop functioning. Patients with untreated achalasia have higher chances of developing esophageal cancer (squamous cell cancer of the esophagus).

Botox® Injections
By Michel Kafrouni, M.D.

Botulinum toxin A (Botox) injections: In achalasia, the muscle at the end of the esophagus (lower esophageal sphincter) is in a status of continuous excitation. All procedures used to treat achalasia are based on disrupting that muscle. Botox injections can relax the spastic lower esophageal sphincter and provide some relief in patients with achalasia. The Botox injections produce satisfactory initial results that predictably wear off within a period of few months, necessitating further injections. Endoscopic Botox injection is a safe procedure but less effective than other treatment options.

Learn more about Botox® Injections

Balloon Dilation
By Michel Kafrouni, M.D.

In achalasia, disrupting the spastic muscle at the end of the esophagus (lower esophageal sphincter) can be done by using a balloon dilator. The achalasia balloon dilators are usually larger in diameter than regular dilators, starting at 30 millimeters (1.18 inches). They are positioned to overlay the hypertrophied lower esophageal sphincter and are then inflated to a preset size. A successful procedure leaves a controlled tear in the layers of the lower esophageal sphincter. The process will be repeated if necessary and the size of the balloon can be increased every time to reach satisfactory results.

Learn more about achalasia balloon dilation

Surgical Treatment

The goal of therapy for achalasia is to obtain relief of dysphagia (difficulty swallowing) while preventing gastroesophageal reflux. The most effective and durable treatment for achalasia is obtained by a myotomy: cutting the muscle of the lower esophageal sphincter (the valve between the esophagus and the stomach) and performing an anti-reflux procedure to prevent reflux following myotomy.

The surgical approaches for myotomy include open transthoracic (incision in the chest), transabdominal (Incision in the abdomen), thoracoscopic (minimally invasive procedure via small incisions in the chest), and laparoscopic (minimally invasive procedure via small incisions in the abdomen) techniques. The laparoscopic minimally invasive procedure called Heller myotomy, is the least invasive surgical procedure for treatment of achalasia and is shown to result in great symptomatic relief.