The condition is often misdiagnosed as acid reflux at first.

By Maggie O'Neill
April 29, 2020
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A new case report published Wednesday in the New England Journal of Medicine, features an elderly woman with a very puzzling diagnosis: What doctors call a "corkscrew esophagus."

According to the report, the 83-year-old woman sought treatment at a gastroenterology clinic for dysphagia (aka, swallowing difficulties) and regurgitation after every meal. The woman also reportedly suffered from postprandial chest pain, or chest pain after meals. She suffered from difficulty swallowing both solids and liquids for years, but her condition got worse in the year before she sought treatment. Over the course of that year, she also reported a weight loss of 9 kilograms, or about 19 pounds.

A barium esophagram—essentially a special type of X-ray—showed a corkscrew pattern in the woman's esophagus, and an upper endoscopy showed "nonperistaltic spastic contractions." She was eventually diagnosed with type III (spastic) achalasia that manifested with a corkscrew esophagus.

What exactly is a corkscrew esophagus?

Corkscrew esophagus is a variant of a condition called achalasia, a condition that results from nerve damage and makes it difficult for the body to pass food and liquid to the stomach. To understand corkscrew esophagus you need to know how the esophagus should work, Scott Gabbard, MD, a gastroenterologist at Cleveland Clinic tells Health. When a person with a healthy esophagus swallows, different parts of the esophagus squeeze at different times. The top squeezes, then the middle, then the bottom (this process is technically known as peristalsis), and this helps propel food through the organ.

When you have corkscrew esophagus, though, “The entire esophagus squeezes at once, and you end up with this corkscrew appearance,” says Dr. Gabbard, adding that it also squeezes too fast. That happens because the body’s immune system has attacked the nerves that release nitric oxide, which causes the esophagus to relax. Without that relaxing agent, the esophagus can spasm painfully [AND SPORADICALLY?]. The condition also causes chest pain, and problems eating and drinking.

NEJM

The good news: There are a few treatment options for this condition, the main one being surgery, Dr. Gabbard says. The surgery—which is known as a myotomy and can also be performed endoscopically—involves making an incision in the lining of the esophagus, Dr. Gabbard says. “It stops the spastic contractions [and] relaxes that bottom valve so patients can swallow,” he explains. The operation is successful in treating corkscrew esophagus more than 90% of the time.

Another possible treatment, which the woman in the case report opted for, is an injection of botox into the esophagus. Botox can be effective in the short term because it stops nerves in the esophagus from releasing a substance that causes the muscle spasms. However, these injections only work for about six months, says Dr. Gabbard.

Doctors don’t know what triggers corkscrew esophagus. One theory is that the condition is caused when the immune system attacks the nerves that release nitric oxide after the body fights off a virus. However, doctors don’t know which virus that is, and, again, they aren’t positive that’s what triggers the condition.

Also worth noting is that the condition is extremely rare. “Achalasia, in general, is one in 100,000 people per year, [and] the spastic variant is less than a-fifth of achalasia [cases],” Dr. Gabbard says. However, “we certainly do see this,” he adds. He’s seen cases of corkscrew esophagus that were misdiagnosed for months or years. A doctor who isn’t a specialist might hear the symptoms and assume it’s a reflux condition. For this reason, it’s essential to visit a center that has the testing capabilities needed to diagnose corkscrew esophagus if you continue to have difficulty swallowing.

Five months after being treated with endoscopic botulism injections, the patient in the case report was doing better: She wasn't regurgitating food, but she was still experiencing difficulty swallowing intermittently.

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