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What Causes Achalasia?

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. Innervating ganglion cells in the myenteric plexus (nerve supply) of the esophagus undergo spontaneous degeneration leading to loss contraction of the esophagus (aperistalsis) and incomplete relaxation of the lower esophageal sphincter. The causes of this degeneration are postulated to be autoimmune, viral immune or neurodegenerative.

(See reference) http://gi.org/guideline/diagnosis-and-management-of-achalasia/

How is Achalasia Diagnosed?

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). An endoscopy that shows retained saliva, food and liquid but no evidence of tumor or narrowing (stricture) should raise the suspicion of achalasia.

Additional Confirmatory Studies Include:

  • Barium esophagram — A contrast radiologic swallowing study performed as an outpatient. A patient swallows barium while sequential images are taken of the esophagus. Classic radiologic findings in a patient with achalasia include dilatation of the esophagus and narrowing of the gastroesophageal junction which causes a “birdbeak” appearance on x-ray (link to image). Other findings include esophageal aperistalsis and poor emptying of contrast from the esophagus. The esophagram helps establish the diagnosis of achalasia and determine the stage of achalasia (early or late) judged by the dilatation and deformity (tortuosisty) of the esophagus. Both these findings have implications on treatment and prognosis.
  • Upper endoscopy — A small camera (endoscope) is inserted through the mouth and used to examine the esophagus and stomach. Upper endoscopy is performed on an outpatient basis and under sedation. In evaluating patients with possible achalasia, endoscopy rules out tumors or scarring (strictures) as causes of dysphagia which may mimic the symptoms of achalasia (pseudoachalasia).
  • Esophageal manometry — A small tube (catheter) with pressure transducers along its length is briefly inserted through the nose or mouth through the esophagus and into the stomach. This is performed on an outpatient basis. The patient is asked to swallow while pressure readings are performed. The catheter is then removed. These readings determine the peristalsis of the esophagus and relaxation of the lower esophageal sphincter. Manometric findings of aperistalsis and incomplete lower esophageal sphincter relaxation solidifies the diagnosis of achalasia.

Treatment

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.

Pharmacologic therapy

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 a more definitive treatment.

Pneumatic Dilatation

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% of patients although efficacy typically dissipates over time. About 50% 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% of patients in experienced hands. This can be a life-threatening complication. Perforation requires immediate surgical repair.

Pharmacologic therapy via endoscopy

Botulinum toxin (Botox) causes a short-term paralysis of the muscle of the lower esophageal sphincter and induces a degree of muscular relaxation. This reduction in LES pressure 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%). Unfortunately, Botox effect wears off over time and more than 50% of patients relapse and require repetitive injections at 6-24 month time intervals. In general, Botox use is restricted to patients in whom pneumatic dilatation or surgical intervention are considered too high risk due to medical comorbidities.

Surgical Myotomy

Surgical cutting of the muscle fibers of the lower esophageal sphincter (LES) without disruption of the inner lining (mucosa) is known as a myotomy. Surgical therapy is considered the most effective and durable treatment of achalasia although, as in all therapies for achalasia, symptom improvement dissipates over time. Large studies of surgical therapy for achalasia suggest that symptom improvement can be expected in approximately 90% of patients at 1 year after surgery and 60% at 5 years or greater. It is generally accepted that fit patients with achalasia should undergo surgery. The development of gastroesophageal reflux disease after myotomy or any of the non-surgical therapies that disrupt the LES is frequent. Therefore, an antireflux procedure (surgical wrapping of the bottom of the esophagus to prevent regurgitation) 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 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 (POEMS)

Peroral esophageal myotomy (POEM) is an endoscopic technique used to divide the circular muscle fibers of the lower esophageal sphincter. Overall, the success rate is high and may hold promise as an alternative to the minimally invasive transabdominal approach. However, results are preliminary with limited data for its use in the United States.

Esophagectomy

In some patients in whom all therapies at treating achalasia have failed, symptoms are severe and in whom quality of life is intolerable, complete removal of the diseased 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