And How Not to Mistake it for GERD

By SRINIVAS SEELA, MD

Achalasia

Achalasia is a rare disorder that makes it difficult for food and liquid to pass from the esophagus into the stomach. It results from progressive degeneration of ganglion cells in the myenteric plexus in the esophageal wall, leading to failure of relaxation of the lower esophageal sphincter (LES), accompanied by a loss of peristalsis in the distal esophagus. As a result, the esophagus becomes paralyzed and dilated over time and eventually loses the ability to squeeze food down into the stomach. Muscles at the lower end of the  esophagus fail to allow food to enter the stomach which causes food to then collect in the esophagus. This sometimes ferments and washes back up into the mouth creating a bitter taste. Some mistake this for gastroesophageal reflux disease (GERD) however, in achalasia the food is coming from the esophagus, whereas in GERD the material comes from the stomach.

Causes of Achalasia

It is not well-known what causes achalasia, but different research indicates that there’s either a genetic component, it’s due to impairment of autoimmune system, or that it’s a nervous system disorder that degrades nerves in the chest that affect peristaltic movements.  As for secondary achalasia, it’s due to diseases that cause esophageal motor abnormalities similar to those of primary achalasia.

Symptoms

Symptoms of esophageal achalasia are usually progressive and can be mild to moderate and severe. Amongst the most common symptoms include:

• Trouble swallowing food (dysphagia)
• Food or liquid flowing back up into your throat (regurgitation)
• Waking up at night coughing or choking due to regurgitation
• Heartburn
• Chest pain or pressure
• Trouble burping
• Hiccups
• Weight loss

Diagnosis

Achalasia diagnosis can be easily missed as it presents with symptoms similar to other GI disorders. An endoscopy (EGD) should be performed to rule out other GI disorders and to exclude a malignancy at the esophagogastric junction that can mimic achalasia. Once that is done, esophageal manometry is the diagnostic test of choice. High resolution manometry is preferred as it has higher sensitivity compared to conventional manometry in diagnosing achalasia. High resolution manometry also better defines achalasia phenotypes. Diagnostic manometric findings of achalasia are incomplete relaxation of the lower esophageal sphincter with pressures above the upper limits of the normal and aperistalsis in the distal two-thirds of the esophagus.

Treatment

There is low but increased risk of esophageal cancer with achalasia. Without treatment, symptoms can be progressive and devastating. Achalasia treatment focuses on relaxing or stretching open the lower esophageal sphincter so that food and liquid can move more easily through the digestive tract. This can be accomplished by mechanical disruption of the muscle fibers of the LES by medical or surgical treatment options. Precise treatments—whether surgical or non-surgical—depends on the age, health condition and the severity of the achalasia in the patient.

Non-surgical options include medications like nitroglycerin (Nitrostat) or nifedipine (Procardia)—a muscle relaxant before eating, Botox, and pneumatic dilatation. However, these medications have limited treatment effect with severe side effects. Medications are generally considered only if the patient is not a candidate for pneumatic dilation or surgery, and Botox hasn't helped. This type of therapy is infrequently indicated.

As for surgical options, there are a couple that are recommended. Heller myotomy is one of them. It’s a procedure that needs to be performed by an experienced surgeon with esophageal training. The surgeon cuts the muscle at the lower end of the esophageal sphincter to allow food to pass more easily into the stomach. The procedure can be done noninvasively (laparoscopic heller myotomy). The downside to this is that some people who have a heller myotomy may later develop GERD. To avoid future problems with GERD, a procedure known as fundoplication may be performed at the same time as the heller myotomy.

During fundoplication, the surgeon wraps the top of the stomach around the lower esophagus to create an anti-reflux valve, preventing acid from coming back into the esophagus—better known as GERD. Fundoplication is usually done with a laparoscopic procedure.

The final recommended surgery to treat achalasia is peroral endoscopic myotomy (POEM). During the POEM procedure, the surgeon uses an endoscope inserted through the mouth and down the throat to create an incision in the inside lining of the esophagus. Then, as in a heller myotomy, the surgeon cuts the muscle at the lower end of the esophageal sphincter. POEM may also be combined with or followed by later fundoplication to help prevent GERD. Some patients who have a POEM and develop GERD after the procedure are treated with daily oral medication.

Srinivas Seela, MD, co-founder of the Digestive and Liver Center of Florida completed his gastroenterology fellowship at Yale University School of Medicine. His interests include colorectal cancer screening, Gastro Esophageal Reflux Disease (GERD), and other metabolic and liver disorders. Additionally, Dr. Seela contributes his knowledge to the medical community by dedicating time to being an Assistant Professor at the University of Central Florida School of Medicine. Visit www.dlcfl.com