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The esophagus is the muscular tube of swallowing. When a patient swallows, a coordinated contraction occurs in the esophagus that propels food from the mouth into the stomach. Diseases that affect this contraction of the esophagus are termed esophageal motility disorders. These disorders dramatically affect swallowing, eating and overall quality of life.
Achalasia is the most common motility disorder of the esophagus. People with this disorder experience difficulty swallowing solids or liquids. Patients initially relate symptoms of food hanging up or sticking (dysphagia) that gradually progresses to difficulty swallowing liquids. This progression may occur over years and go largely unnoticed by the patient until the symptoms are severe. Patients may also relate symptoms of regurgitation as well chest pain and heartburn. Weight loss and malnutrition may occur if left untreated.
Each portion of the esophagus has an important function and role. In a normal patient, a functional valve (lower esophageal sphincter) at the end of the esophagus relaxes, allows food to enter the stomach and tightens to prevent regurgitation (reflux). Patients with achalasia have a valve that fails to completely open (relax) and therefore presents a consistent obstruction to the passage of solids and liquids into the stomach. Initially, the esophagus compensates for this increased resistance by squeezing harder to force food through the obstruction. As time passes, the esophagus tires and no longer has the strength to force food through. Eventually, the esophagus becomes stretched (dilated) upstream of (proximal to) the lower esophageal sphincter leading to progressive problems with eating and swallowing as food and liquid pools in the esophagus. Achalasia occurs in 1 in 100,000 patients annually with equal predilection for males and females. The peak incidence occurs between 30-60 years of age.
Clinical history and physical exam are critical to correctly diagnosing achalasia. Patients with achalasia typically present with dysphagia to solid food and liquids and regurgitation of bland, undigested food or saliva. Chest pain and heartburn may occur and these symptoms can lead to the misdiagnosis of gastroesophageal reflux disease, due to similarities in symptoms. Any patient with dysphagia should have an endoscopy or esophagram (contrast swallowing study) to rule out an anatomic obstruction due to tumors of the esophagus or stomach (pseudoachalasia).
Treatment options for patients with achalasia are variable. These range from medical to surgical, depending on a patient’s age and medical condition. Your surgeon and gastroenterologist will choose the best treatment for you.
Oral medications are utilized to transiently relax the lower esophageal sphincter. These medications carry significant side effects and poor symptom relief. In general, they are not recommended unless a patient refuses additional treatment.
Pneumatic dilatation (PD) is still considered the most effective nonsurgical treatment option for patients with achalasia. PD is performed endoscopically and as an outpatient. A specially designed balloon is inserted into the esophagus and carefully inflated to a pressure high enough to dilate and disrupt the circular muscular fibers of the lower esophageal sphincter. This leads to symptom relief in 50-90 percent of patients although its effectiveness decreases over time. About 50 percent of patients have symptom relief at 5 years after pneumatic dilatation. The most serious complication of pneumatic dilatation is a complete tear of the esophagus (perforation) which occurs in 1-2 percent of patients in experienced hands. This can be a life-threatening complication. Perforation requires immediate surgical repair.
Botulinum toxin (Botox) causes a short-term paralysis of the muscle of the lower esophageal sphincter and aids in muscular relaxation. This leads to improved esophageal emptying and symptom relief. Botox is injected endoscopically and has minimal side effects. Response rates to treatment are high (greater than 75 percent). Unfortunately, Botox effect wears off over time and more than 50 percent of patients relapse and require more injections at 6-24 month time intervals. In general, Botox use is restricted to patients in whom other procedures are considered too high risk.
Myotomy involves surgical cutting of the muscle fibers of the lower esophageal sphincter (LES). Surgical therapy is considered the most effective and lasting treatment of achalasia, although, as in all therapies for achalasia, symptom improvement decreases over time. Large studies suggest that symptom improvement can be expected in approximately 90 percent of patients at one year after surgery and 60 percent at five years or greater. It is generally accepted that fit patients with achalasia should undergo surgery.
The development of gastroesophageal reflux disease (GERD) after myotomy is frequent. Therefore, an antireflux procedure should be considered at the time of myotomy and is recommended by the Society of American Gastrointestinal and Endoscopic Surgeons. Surgical myotomy with an antireflux procedure is performed minimally invasively at the Center for Thoracic Surgery at Baylor University Medical Center at Dallas using a robotic technique. The operation is called a Heller myotomy with Dor fundoplication, named after the physicians who described the procedure. Five, one-inch incisions are created in the abdomen and robotic arms used to perform the myotomy and antireflux procedure. Patients are typically discharged the day after surgery after a night of observation in the hospital. Recovery and return to work is rapid.
Peroral esophageal myotomy (POEM) is an endoscopic technique used to divide the muscle fibers of the lower esophageal sphincter. Overall, the success rate is high and may hold promise as an alternative to the minimally invasive approach. However, results are preliminary with limited data for its use in the United States.
For patients in whom all therapies at treating achalasia have failed, symptoms are severe and quality of life is intolerable, complete removal of the esophagus (esophagectomy) is necessary. Fortunately, this occurs extremely infrequently. If esohagectomy is required, replacement of the esophagus is performed using the patient’s stomach and return to eating and swallowing with good quality of life is still achievable.
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