Vol. 15, Issue 3 Apr 2015

Case Management: Treatment of Achalasia

Contributing Author: John DeWitt, MD

Indiana University School of Medicine is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Indiana University School of Medicine designates this enduring material for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

In accordance with the Accreditation Council for Continuing Medical Education (ACCME) Standards for Commercial Support, educational programs sponsored by Indiana University School of Medicine (IUSM) must demonstrate balance, independence, objectivity, and scientific rigor. All faculty, authors, editors, and planning committee members participating in an IUSM-sponsored activity are required to disclose any relevant financial interest or other relationship with the manufacturer(s) of any commercial product(s) and/or provider(s) of commercial services that are discussed in an educational activity.

Statements of Disclosure of Relevant Financial Relationships have been obtained from John DeWitt, MD. Dr. DeWitt has disclosed that he has no relevant financial relationships with any commercial interests.

After reading this article, the reader should be able to:

  • Discuss the pathophysiology of achalasia.
  • Describe the usual presentation and diagnosis of achalasia.
  • Identify the goal of achalasia treatment.
  • Summarize the nonsurgical interventions for achalasia.
  • Compare and contrast the two surgical options for the management of achalasia.

Date of original release: April 2015
Date of expiration: April 2016

Note: While it offers CME credits, this activity is not intended to provide extensive training or certification in the field.

Overview of Achalasia

Achalasia is a primary motility disorder characterized by the absence of esophageal body peristalsis, elevated lower esophageal sphincter (LES) pressure, and impaired LES relaxation during swallowing that collectively combine to prevent passage of bolus through the gastroesophageal junction (GEJ). A rare condition, achalasia has an annual incidence of 1.0 cases per 100,0001 and generally develops in adults aged 25 to 60 years, with men and women equally affected. The motor abnormalities that typify the disease are attributable to a loss of esophageal myenteric plexus neurons.2 Its precise etiology remains unknown, however, with infectious, genetic, and autoimmune mechanisms suspected.3

"The onset and progression of achalasia are gradual, and patients often experience symptoms for years before seeking medical attention," explains John DeWitt, MD, director of endoscopic ultrasound at IU Health Physicians and professor of medicine at Indiana University School of Medicine. "The most common clinical manifestation is dysphagia for solids and liquids, which is seen in more than 90 percent of patients. Other symptoms include regurgitation of undigested food and saliva, which may be severe and cause pulmonary complications, such as cough or aspiration pneumonia; chest pain; heartburn; and weight loss."

The gold standard for the diagnosis of achalasia is esophageal manometry. High-resolution manometry uses closely spaced sensors (≤1.0 cm apart) to record pressure along the entire length and radius of the esophagus and at both the lower and upper sphincters, thus avoiding data gaps that occur with conventional manometry. The addition of pressure topography plotting allows classification of achalasia into three subtypes (Table 1), which helps predict response to treatment and guide management.4,5 Radiographic studies (e.g., barium esophagram) and endoscopic evaluation are performed to provide additional information, rule out mechanical obstruction, and distinguish primary from secondary achalasia caused by malignancy.

Without treatment, patients with achalasia develop progressive esophageal dilation that may culminate in megaesophagus (diameter >6 cm) or sigmoid esophagus. Untreated achalasia is also linked to an increased risk for esophageal cancer.6

Case Study

A 43-year-old male with a three-year history of dysphagia presents to a gastroenterologist at Indiana University Health to discuss treatment options. Over the last six months, he reports recurrent difficulty swallowing both solids and liquids, postprandial regurgitation, and a 20-pound weight loss. Esophageal manometry performed one year earlier confirms type III achalasia (Table 1) with increased LES pressure and spastic contractions of the esophageal body. His Eckardt score is 6 (Table 2).

Treatment Options

"No current therapies can reverse the damage to the myenteric plexus and restore normal esophageal motor function in patients with achalasia," Dr. DeWitt emphasizes. "The goal of treatment is to disrupt the muscular layer of the lower esophageal sphincter in order to reduce pressure, improve esophageal emptying, relieve symptoms, and prevent the development of megaesophagus."

Oral pharmacotherapy

Medications that induce smooth muscle relaxation, chiefly calcium channel blockers and nitrates, decrease LES pressure and improve symptoms in some individuals with achalasia. Yet their overall clinical efficacy is quite low, and side effects are common. Consequently, Dr. DeWitt says drugs play almost no role in the management of achalasia and are only very occasionally used for palliation in patients who cannot tolerate invasive therapies or as a bridge to definitive treatment.

Botulinum toxin injection

Endoscopic injection of the neurotoxin botulinum blocks the release of acetylcholine from excitatory motor neurons, helping relax the LES and reduce its resting pressure. Placebo-controlled clinical trials have shown such treatment to be safe and effective, with 65 to 90 percent of patients experiencing significant improvement in symptoms that may persist for a few months to one year.7,8 Repeat injections can be performed, but responsiveness tends to diminish over time owing to the development of inhibitory antibodies to the botulinum toxin. Thus, this treatment option is considered a temporizing measure, reserved for patients at high-risk for complications with more invasive interventions.

Pneumatic dilation

"Pneumatic dilation is considered the most effective nonsurgical treatment option for achalasia," Dr. DeWitt reports. "The technique involves affixing a low-compliance polyethylene balloon to a flexible catheter that is placed over a guidewire and endoscopically positioned across the lower esophageal sphincter. Rapid inflation of the balloon with air stretches and ruptures the muscle fibers, decreasing lower esophageal sphincter pressure and improving bolus transit through the cardia."

Initial success rates with endoscopic pneumatic dilation are high, with up to 85 percent of patients reporting symptom improvement within one month of treatment.9 Long-term remission can be achieved in slightly less than half of all treated patients via repeated, graded dilations using increasingly larger diameter balloons.10 Minor complications include esophageal mucosal tears, bleeding, intramural hematoma, and reflux. Transmural perforation occurs in about two percent of patients, with approximately half requiring emergent surgical repair.11

Laparoscopic Heller myotomy

In 1913, Heller described the first surgical approach to the treatment of achalasia. In the intervening years, the technique has evolved from open thoracotomy and laparotomy to a minimally invasive laparoscopic procedure. Today, laparoscopic Heller myotomy (LHM) performed through two or three ports in the abdomen is considered the standard surgical procedure for achalasia. Surgery involves longitudinally incising LES muscle fibers without disrupting the mucosal lining of the esophagus to relieve the functional obstruction. Patients are hospitalized for four to five days after surgery and have a prolonged recovery at home that extends over several weeks.

LHM provides effective symptom control in 90 to 97 percent of patients,12,13 although efficacy wanes over time. Major complications include perforation of the esophageal or gastric mucosa, recurrent dysphagia, and the development of gastroesophageal reflux disease (GERD). While the addition of a partial fundoplication to myotomy decreases the risk of postoperative GERD, such risk is not totally eliminated.

Peroral endoscopic myotomy

"The newest option for the treatment of achalasia is peroral endoscopic myotomy, or POEM, a natural orifice transluminal endoscopic surgical technique," explains Dr. DeWitt, who performed the first POEM procedure in the state of Indiana. "The technique, pioneered by a Japanese surgeon in 2008, is designed to less invasively replicate Heller myotomy minus the fundoplication."

POEM consists of five consecutive steps:

  1. Transoral insertion of an upper endoscope.
  2. Mucosal incision of the esophageal wall 10 to 15 cm above the GEJ to allow entry into the submucosa.
  3. Creation of a submucosal tunnel to reach the LES.
  4. Myotomy of the circular muscle layer of the LES.
  5. Closure of the mucosal entry with multiple endoscopic clips or sutures.

A systematic review and meta-analyses of 29 studies reporting on the use of POEM in 1045 patients with achalasia, including some previously treated with surgery or nonsurgical interventions, found the procedure was comparable to LHM in relieving symptoms.14 GERD is the most common adverse event with POEM, but its prevalence varies widely, and reflux generally responds to acid suppression with proton pump inhibitors (PPIs).2 Advantages to POEM compared with LHM include the ability to perform a longer myotomy than is possible via the laparoscope, shorter operative times and hospital stays, less postoperative pain, faster recoveries (return to light activities/work within a few days of discharge), lower rates of complications and recurrence, and greater patient satisfaction.15

"The newest option for the treatment of achalasia is peroral endoscopic myotomy, or POEM, a natural orifice transluminal endoscopic surgical technique," explains Dr. DeWitt, who performed the first POEM procedure in the state of Indiana. "The technique, pioneered by a Japanese surgeon in 2008, is designed to less invasively replicate Heller myotomy minus the fundoplication."

Case Study (cont.)

All treatment options are discussed with the patient. He elects to undergo POEM and begins a clear liquid diet 24 hours before the procedure. Intravenous antibiotics are started preoperatively. In the operating room, the patient is placed in the supine position and intubated. General anesthesia is administered and esophagogastroduodenoscopy performed. A site 12 cm proximal to the GEJ is identified for anterior esophageal mucosotomy. After injection of a dilute solution containing indigo carmine and epinephrine in saline to expand the submucosal space, a 2 cm mucosotomy is made and the endoscope is inserted into the submucosal space. A submucosal tunnel is created and extended into the gastric cardia about 2 cm distal to the GEJ. A myotomy is then performed 3 cm distal to the mucosal entry point, with care taken to preserve the longitudinal muscle layers of the esophagus and stomach. Smooth passage of the endoscope through the GEJ, retroflexed evaluation of the valve, and blanched gastric mucosa confirm an adequate myotomy (Figure 1). The mucosotomy is closed with surgical clips, and the patient is taken to the recovery room.

On postoperative day one, the patient is evaluated with a water-soluble contrast esophagram to rule out perforation and other surgical complications. The following day, he is switched to oral antibiotics, started on a pureed diet, and discharged home. He continues oral antibiotics for 10 days and maintains the pureed diet for one week, then gradually starts to eat solid foods. Three months after the procedure, he is seen in the office. He has no evidence of dysphagia and has regained the lost weight.

Advantages to POEM compared with LHM include the ability to perform a longer myotomy than is possible via the laparoscope, shorter operative times and hospital stays, less postoperative pain, faster recoveries (return to light activities/work within a few days of discharge), lower rates of complications and recurrence, and greater patient satisfaction.

POEM is primarily performed at international medical centers with an interest and experience in esophageal disorders. IU Health is the only center in Indiana—and one of just 60 centers worldwide16—offering the procedure.

"The major limitation to the expansion of POEM is the paucity of trained physicians," Dr. DeWitt concludes. "Advanced training beyond fellowship is needed. However, obtaining such training is problematic because POEM is a rare disease, and there are few opportunities for teaching. Additionally, the equipment used is expensive, and reimbursement for the procedure is poor. Nonetheless, when POEM is performed by an experienced interventional endoscopist, this minimally invasive technique may be appropriate for all achalasia subtypes, sigmoid esophagus, and medically fragile patients."

Achalasia Masquerading as GERD

In the current era of frequent use—and sometimes overuse—of PPIs, a growing number of patients with heartburn and other esophageal symptoms are failing to respond to these medications. In some of these individuals, PPI-refractory heartburn may in fact be explained by achalasia.

Guidelines from the American College of Gastroenterology (ACG) state that "achalasia must be suspected… in those with regurgitation unresponsive to an adequate trial of PPI therapy. Endoscopic findings of retained saliva, liquid, and food in the esophagus without mechanical obstruction from stricture or mass should raise suspicion for achalasia."17

ACG guidelines for the management of GERD mandate esophageal manometry prior to antireflux surgery, with the primary objective to rule out achalasia masquerading as GERD.18

John DeWitt, MD

Director of Endoscopic Ultrasound IU Health Physicians Digestive & Liver Disorders and Indiana University School of Medicine
Professor of Medicine Indiana University School of Medicine

Dr. DeWitt is a graduate of the Medical College of Virginia, where he also received his residency training and completed a fellowship in gastroenterology. Subsequently, he completed a fellowship in advanced endoscopy at the University of Massachusetts in Worcester. He currently is a professor of medicine in the division of gastroenterology at IU School of Medicine. His clinical interests include endoscopic ultrasound, endoscopic mucosal resection, pancreatic cystic neoplasms and cancer, Barrett's esophagus, esophageal cancer, endoscopic submucosal dissection, and POEM.

Dr. DeWitt is a fellow of the American College of Gastroenterology (ACG), the American Gastroenterological Association (AGA), and the American Society of Gastrointestinal Endoscopy (ASGE). In 2012, he received the ACG Governor's Award for Excellence in Clinical Research. He currently serves as vice chair of the imaging and advanced technology section of the AGA Council and as chair of the standards of practice for the ASGE. The author of more than 130 peer-reviewed journal articles and several textbook chapters, he teaches and lectures extensively in the United States and abroad. In 2012, Indianapolis Monthly Magazine named Dr. DeWitt one of the top gastroenterologists in the city.

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