Achalasia is a motility disorder in the esophagus that is rare, affecting 1 person in 100,000. The term motility denotes the contraction of the muscles that mix and propel contents in the digestive tract, of which the esophagus is the segment that follows the mouth and goes to the stomach.
Achalasia can occur at any age. Patients often have the following symptoms: difficulty swallowing (dysphagia), vomiting, regurgitation of food, weight loss, and even chest pain.
Normally, the lower esophageal sphincter remains closed to prevent food and acid from refluxing back up into the esophagus. When you swallow, this sphincter will relax, allowing food to enter into the stomach.
In achalasia, the lower esophageal sphincter is tight, and will not allow passage of food into the stomach.
Achalasia is believed to be caused by a loss of Auerbach's nerve plexus, which results in the lower esophageal sphincter failing to relax during swallowing. In most achalasia patients, their esophagus will have poor motility, and the esophagus will not push the food down toward the stomach.
To combat this disorder, various treatment modalities are available for patients.
Here, Salvatore Docimo Jr., DO, MS, of our Bariatric, Foregut, and Advanced Gastrointestinal Surgery Division, answers questions regarding the diagnosis and treatment of achalasia.
Q: How is achalasia diagnosed?
A: After a thorough history, a patient will undergo an esophagogastroduodenoscopy (EGD). The EGD will likely show a dilated esophagus with retained food and fluid with an increased resistance or difficulty in passage of the endoscope — a thin flexible tube with tiny video camera — through the gastroesophageal junction (GEJ).
An EGD will also allow for the diagnosis of other possible problems such as a tumor or esophagitis.
A contrast esophagram will also be performed. The patient will swallow a contrast solution, and x-rays are taken to evaluate the esophagus. Features such as a dilated esophagus or absence of a gastric air bubble can be seen.
|The so-called bird's beak, seen in this x-ray, refers to the tapering of the lower esophagus in achalasia. Although it generally occurs in actual (primary) achalasia, it can also occur in pseudo-achalasia as the result of a tumor involving the gastroesophageal junction, where the esophagus connects with the stomach.|
An esophageal manometry will also need to be performed. This study measures the function of the lower esophageal sphincter and the esophagus itself. If positive for achalasia, it will likely demonstrate an absent relaxation of the lower esophageal sphincter.
Q: What are some non-invasive treatment options?
A: Medications, such as calcium channel blockers and long-acting nitrates, are a medicinal treatment. However, most of the time, any improvement in symptoms is short-lived.
Botulinum (Botox) injection is where an EGD is performed, and botulinum is injected to allow the lower esophageal sphincter muscles to relax. This method of treatment has shown to work in nearly 75% of patients. However, the positive benefits are short-lived, usually lasting only 2-4 months.
Pneumatic dilation is a method of treatment where a balloon is placed across the GEJ and inflated. The cylinder-shaped balloon will rupture the muscle fibers of the lower esophageal sphincter, thereby making passage of food and fluid easier. However, concern for perforation is present, as it occurs in 4% to 7% of patients.
Patients experiencing any of the symptoms described above should arrange for a consultation with one of our specialists to discuss all of these treatment options to find out which one is right for them.
Q: What is a laparoscopic Heller myotomy?
A: A minimally invasive laparoscopic Heller myotomy is currently the gold standard for treatment of achalasia. It involves usually five small incisions — each between a quarter of an inch and half an inch long — in the abdomen. This procedure is performed by a surgeon. The esophagus and stomach are exposed via a tiny camera inside the abdomen and visualized on a computer screen. The myotomy is then performed with miniature surgical tools to cut the same problematic muscle as in a POEM.
The surgeon will then pass an endoscope down the esophagus to ensure the tight lower esophageal sphincter is now loose.
One major advantage of a laparoscopic Heller myotomy approach is the ability to perform an anti-reflux procedure (a fundoplication) to prevent post-procedural reflux. Patients usually require an overnight stay, and are sent home the next day.
Q: What is per-oral endoscopic myotomy (POEM)?
A: Per-oral (PO-) means were are working through the mouth; endoscopic (E-) means we are using an endoscope, and myotomy (M) means we are cutting muscle.
POEM is a minimally invasive endoscopic approach to perform a myotomy, or cutting the muscle at the lower esophageal sphincter. The technique, which originated in Japan, is relatively new. POEM is performed with an endoscope; that is, a flexible tube passed down the esophagus.
The endoscope is gently pushed down into the esophagus. A cut is made in the lining or mucosa. A tunnel is made in the wall of the esophagus, and the muscle layer is then cut (the myotomy) with a special knife passed through the endoscope. The opening to the tunnel is then closed using clips or suture material.
Patients who have the POEM procedure are usually sent home the following day after being admitted to the hospital for an overnight stay.
The procedure is attractive because it limits the scars on the abdominal wall (if a laparoscopic Heller myotomy is performed) and offers a quick recovery time as well as less pain.
A study I published this year demonstrates less pain with a POEM (read abstract). We believe POEM will provide a long-term benefit to patients. However, reflux has been reported by patients after a POEM, and this currently is being studied.
Q: What is the advantage of being treated for achalasia at Stony Brook Medicine?
A: We offer patients both leading-edge diagnostic technology and surgical expertise in the management of achalasia. Our surgeons are national leaders in minimally invasive laparoscopic procedures that generally provide a shorter hospital stay, less pain, minimal scarring, and faster recovery so that patients can return to their normal activity.