Disorders of the esophagus – including gastrointestinal reflux disease (GERD) and motility disorders such as achalasia – represent a significant burden on the health care system, consuming $18.1 billion in 2015 alone. Of this spending, $12.4 billion was for acid suppression therapy (H2 blockers and proton-pump inhibitors).
“Esophageal motility disorders and GERD are benign in nature and not typically associated with mortality, but they can have substantial impact on the quality of a patient’s health,” said Michael Vaezi, M.D., director of the Vanderbilt Center for Swallowing and Esophageal Disorders.
The Vanderbilt center is one of a handful in the U.S. specializing in the treatment of rare or complex esophageal motility disorders.
Vaezi, who recently co-authored a research update of esophageal disorders and GERD in the New England Journal of Medicine, says that treatment for these conditions is on the verge of major changes with a number of new diagnostic technologies in development and the broader adoption of minimally invasive, endoscopic approaches.
“Esophageal motility disorders and GERD … can have substantial impact on the quality of a patient’s health.”
Esophageal Motility: Measuring Peristalsis
Primary or idiopathic esophageal motility disorders, including esophageal achalasia, esophagogastric junction outflow obstruction and jackhammer esophagus, involve degeneration of the inhibitory motor neurons of the myenteric plexus. Dysphagia in these patients may be related to low compliance or lack of relaxation of the distal esophagus, causing alteration in the bolus flow pattern.
High-resolution manometry performed with closely spaced pressure sensors and displayed as a colored topographic plot is the current standard for diagnosing esophageal motility disorders.
A relatively new diagnostic technique, functional lumen imaging probe (FLIP) topography, measures distensibility function of the lower esophageal sphincter and esophagus as well as the direction of peristalsis (antegrade or retrograde).
The FLIP technique is associated with less catheter-related discomfort compared to high-resolution manometry and can be used to diagnose esophageal motility disorders at the time of upper endoscopy in a patient who is under sedation.
Achalasia: Rare but Complex
Esophageal achalasia is rare, affecting one to two people per 100,000, and limited knowledge about the etiology of the disease continues to hinder diagnostic and therapeutic advancements. Ongoing research is seeking to reveal biomarkers that will help clarify disease mechanisms.
Standard treatments for achalasia include pneumatic dilation (PD), botulinum toxin injection or division of the lower esophageal sphincter surgically using techniques such as open or laparoscopic Heller myotomy (LHM).
Peroral endoscopic myotomy (POEM) has proven safe and effective in the treatment of achalasia and has demonstrated promising outcomes for other esophageal motility disorders. The dysphagia outcomes with peroral endoscopic myotomy are similar to pneumatic dilatation and Heller’s myotomy.
POEM allows a long myotomy, which is needed for the treatment of type III achalasia and distal esophageal spasm. Today, POEM is used as first-line therapy in expert centers for those with type III achalasia; LHM and PD are excellent options for type II achalasia.
“For patients with achalasia, I recommend evaluation and treatment in specialty centers with expertise in esophageal diseases in order to tailor treatment to each patient based on the type of achalasia and the patient’s clinical status,” Vaezi said.
GERD: New Diagnostics and Treatments
GERD can contribute to problems that include chronic cough, laryngitis, and esophageal inflammation and ulcers, and is also a precursor to Barrett’s esophagus, a condition that raises the risk of esophageal cancer.
Diagnostic methods usually include ambulatory reflux testing, esophageal manometry and gastric emptying tests. The goal of these tests is to rule out a contribution of GERD to the patient’s symptoms.
A novel diagnostic tool developed at Vanderbilt directly measures mucosal impedance and recognizes the unique epithelial signature of GERD and other esophageal conditions. The technology is compatible with standard endoscopy and is a promising new test for patients with GERD.
“The one-size-fits-all approach is not appropriate for many of our patients with GERD.”
Despite the fact that proton-pump inhibitors are highly effective in treating GERD, concerns about their long-term safety have resulted in reexamination of their use. An investigational drug that binds to bile in the stomach initially suggested benefit, however recent phase 3 studies were discontinued showing less than optimal response.
“The one-size-fits-all approach is not appropriate for many of our patients,” Vaezi said. “Individualized therapy is key to ensuring appropriate diagnosis and treatment for patients with GERD.”