Motility Mysteries … Solved!

Stomach troubles sometimes signal illness elsewhere. A team of Johns Hopkins physician detectives take on difficult-to-diagnose medical cases.

Published in Dome - November 2015

Motility difficulties can be maddeningly hard to pin down. Often, symptoms that manifest as gut troubles are actually signs of illness somewhere else.

Is a patient’s nausea related to gastric issues? Or are the symptoms the result of an allergy? When symptoms overlap specialties, patients can get lost in a maze of appointments, testing and crossed signals.

Enter the Johns Hopkins Center for Neurogastroenterology, also called the Motility Center. Here, a team of physician detectives from a variety of specialties—including pathology, surgery, psychiatry, gynecology and others—works together to puzzle over the clues and solve difficult-to-diagnose medical cases.

“For most patients with what we call ‘functional GI disorders,’ nothing’s going to leap out of the endoscopy that says ‘here’s the problem,’” says gastroenterologist John Clarke. “Our center is designed to deal with problems we can’t solve with endoscopy or imaging alone.”

He and colleague Jay Pasricha relish the opportunity to join forces in tackling motility mysteries that have stumped some of the best around the country.

“In many ways, neurogastroenterology represents one of the last and most exciting frontiers in medicine,” says Pasricha. “The enteric nervous system, the brain inside our gut, is increasingly being recognized as a key player not only for digestive disorders, but also for metabolic conditions, such as obesity and diabetes, as well as anxiety and depression.”

Consider three cases that the team has cracked.

The Strange Case of the Teacher Who Woke in the Night

By the time Sherry (all patient identities have been changed) visited the Motility Center at Johns Hopkins, she’d spent nearly half her life with a puzzling condition that could incapacitate her with no warning.

The 27-year-old teacher would wake up around 1 a.m. with powerful nausea and vomit every 10 or 15 minutes for hours. The nausea spells came at unpredictable intervals; they could happen once a month or once a week. Sherry had been suffering this since the age of 15. But between bouts of the unexplained illness, she felt fine.

Over the years, she’d visited both primary care doctors and specialists, who searched for problems in her stomach and her intestines. But no one found anything out of the ordinary, and nothing brought relief. 

It didn’t take long for Clarke to develop a theory: “She showed some of the signs of cyclic vomiting syndrome.”

Though literature on the syndrome says nothing about the late-night onset of Sherry’s episodes, many of the other symptoms fit. Sherry even related a history of marijuana use in her teens. “Sometimes, but not always, cyclic vomiting syndrome can be associated with prior marijuana use,” says Clarke.

He got her started on amitriptyline, “an old type of antidepressant that literature says shows a benefit for cyclic vomiting syndrome.”

Five months after her first visit to the Motility Center, Sherry told Clarke that since starting the amitriptyline, she’s had no more crippling nausea and vomiting. “This is the longest she’s gone between episodes,” Clarke says. “She had debilitating symptoms for 12 years. Now they’ve stopped.”

A Study in Swallowing

Rhonda’s heartburn was out of control. Diagnosed with acid reflux disease, the 24-year-old had boosted her proton pump inhibitor medicine to twice a day. But she continued to suffer episodes of severe heartburn, and her doctor instructed her to increase her Nexium to three times daily.

The heartburn became so acute that Rhonda had to sleep sitting up in a chair. Sometimes, her condition even made it difficult to swallow.

When she visited the Johns Hopkins Motility Center, Rhonda’s existing diagnosis of refractory reflux didn’t quite add up, says Clarke. The fact that she got little or no relief from prescription-strength gastric acid reducers sounded like a problem of physiology rather than other common reflux causes.

Rhonda’s case had one more twist to it: She refused to have surgery.

Whatever surgical options Clarke’s team might have explored could have involved scars, a deal-breaker for Rhonda, who insisted on nonsurgical approaches.

Clarke called on Bronwyn Jones, a gastrointestinal radiologist and the director of the Johns Hopkins Swallowing Center. Jones performed a cine-esophogram, a swallowing study in which doctors use video X-ray technology to watch a barium solution make its way down a patient’s esophagus.

Jones says that acid reflux, while common, “is emerging as a kind of catch-all diagnosis. It’s the first thing a lot of people point to when something goes wrong in the esophagus. I think it’s overdiagnosed.”

The cine-esophagram produces both still and moving X-ray images of the patient’s swallow, following the radioactive liquid’s journey down the esophagus, until it makes a gentle left turn into the patient’s stomach.

The test made Rhonda’s doctors suspect her problems might have more to do with muscle spasms than with gastric acid.

They performed an esophageal menometry test, in which a pressure-sensitive tube measures the strength of a patient’s esophageal muscle contractions. That test revealed the real problem: a condition called achalasia.

The smooth muscle fibers in Rhonda’s esophagus could not relax, causing weakness in her lower esophageal sphincter. The condition led to her severe reflux problems—and explained why heartburn medicine couldn’t bring her relief.

Rhonda remained committed to a nonsurgical solution for her problem. So Clarke performed endoscopic dilatation to stretch and relax her esophageal muscles. Clarke says Rhonda is not symptom-free “but is still doing much better than when initially diagnosed.”

The Boy Who Didn’t Like Ice Cream

Every few months, 36-year-old Kent felt like he had something stuck in his throat. Solid foods were always the culprit and, now and then, the problem was severe enough that Kent had to vomit to clear whatever was lodged.

He’d undergone barium tests in the past, and nothing problematic turned up.

Kent had reflux issues since childhood. The problem was worst when he drank milk or ate ice cream. He’d feel a burning in his chest and unusually congested.

When Kent visited Johns Hopkins, Clarke followed the clues in the direction of a diagnosis. “His history with milk and dairy products sounded allergy-related,” Clarke says. The doctor also learned that Kent had a family history of asthma.

“We did an upper endoscopy and found esophageal rings,” Clarke says. A biopsy revealed that Kent also had a high number of a particular type of white blood cell in his esophagus. Taken all together—the rings, the allergy, the family history and the biopsy results—Clarke’s suspicions were confirmed.

“The patient had something called eosinophilic esophagitis (EOE), an allergic, inflammatory condition,” Clarke says. “It’s becoming a much more common diagnosis, especially among young adults.”

About 80 percent of people with the condition have a history of asthma or allergies, says Clarke. Treatment for EOE begins by eliminating dietary elements—one by one—that could serve as triggers. If no dietary source can be pinpointed, next steps involve topical steroids and stretching the esophagus.

After the diagnosis, Clarke and the GI team hit the mark on the first try.

“Given the strong association with milk in terms of his symptoms,” Clarke says, “we told him to stay away from milk and milk products.”

Kent reports that, almost four years later, he feels almost completely better and experiences the problem now only as a rare nuisance.

“Sometimes the answers are simple and we can stop there,” Clarke says. “No milk or ice cream. Mystery solved.”