For most of his life, doctors told this man he had a rare case of asthma. But at age 65, the man's wheezing and relentless cough led a friend to do some digging—and a group of doctors finally discovered the man's rare condition, Lisa Sanders reports for the New York Times Magazine. 

A medical 'mystery'

One day, in a town outside Philadelphia, the patient was walking to his car when he started "gasping for air," Sanders writes. "He could hear his breath: ragged, wheezy and fast, interrupted by a relentless cough," she notes. The man collapsed in his car, but after concentrating on his breathing for a few minutes, he felt well enough to drive to work.

The patient wasn't surprised by the episode, as he'd been plagued with breathing problems "for as long as he could remember," Sanders writes. When he was younger, he would experience episodes of coughing, shortness of breath, and wheezing every couple years. But around age 55, the attacks began to occur every winter. By age 65, the man was feeling "short of breath all year round," Sanders writes.

Over the years, the man had seen several doctors who'd diagnosed him with "atypical" asthma because usual asthma medications didn't improve his condition. When his breathing became particularly labored, doctors would give the man prednisone for a couple of weeks.

The treatments would sometimes help the man feel better for a week or two, but nothing stopped the attacks from coming back. Most doctors told the patient he was "a mystery they just couldn't solve," Sanders writes, and the man's condition had gotten so bad that he was considering retiring from work— even though he loved his job.

A friend finds a lead

The man one day consulted a coworker and friend, Karen Sims, who is a doctor. Although he'd never been Sims' patient, he knew Sims loved tough medical cases.

The man told Sims that he was "having trouble with [his] breathing" and described how his symptoms—wheezing, shortness of breath, and a relentless cough—were getting worse, Sanders writes. He also told Sims that the symptoms were particularly bad in cold weather and when he lay down flat. In addition, he said while he usually coughed up mucus, he sometimes would find filaments mixed in. "They were milky white and firm and smooth like plastic," Sanders writes. "And often they looked like the branches of a tiny tree."

The information sent Sims searching on the internet. The branch-shaped filaments reminded her of bronchial casts, or blood clots that retained the shape of the blood vessels they came from, Sanders writes. But there was a problem, Sanders notes: blood clots aren't white.

Sims searched for "wheezing, cough, and bronchial casts," and the results pointed to plastic bronchitis, which is an uncommon, sometimes life-threatening condition that impacts the lymphatic system. Usually, lymph fluid flows through the lymph nodes and is returned to the bloodstream, Sanders writes. But in patients with plastic bronchitis, the lymph fluid leaks into the lungs and solidifies, blocking the patient's airways. When the dried fluid is coughed up, it sometimes can take the shape of the airways they were blocking, much like bronchial casts from blood clots—but the casts from lymph fluid are white instead of red.

Sims recommended the man see John Hansen-Flaschen, a doctor and emeritus professor of medicine at the University of Pennsylvania who was familiar with plastic bronchitis.

A long-sought diagnosis

At the  appointment,  Hansen-Flaschen spent two hours examining the patient and gathering details about his symptoms. When Hansen-Flaschen examined the patient, he heard a crackling noise that sounded like Bubble Wrap being crushed at the base of each lung.

Hansen-Flaschen agreed that the man probably had the condition—though Hansen-Flaschen didn't understand why. The condition was most common in children or adults who'd had heart surgery or in patients with an inflammatory disease of the lungs, such as cystic fibrosis—none of which described the patient.

 "It sounded [to Hansen-Flaschen] as if [the patient] had this all his life," Sanders writes.

Hansen-Flaschen referred the patient to Maxim Itkin, a radiologist at Penn who had developed a method to visualize patients' lymphatic systems by injecting contrast dye into the lymph vessels and using an X-ray to identify any blockages or leaks.

The test showed that lymph fluid was flowing into the patient's chest and leaking into his lungs. Itkin also found that, at the top of the patient's lymphatic system, where the lymph fluid was supposed to flow into the blood stream, one of the vessels was narrowed and almost completely blocked, Sanders writes. That caused pressure, which then sprouted multiple leaks into the patient's lungs and chest.

Itkin and Hansen-Flaschen said the patient probably was born with a "kink in his lymph tubing" that caused the vessels to become narrowed and blocked. According to Hansen-Flaschen, the disorder previously was considered to be rare. However, the number of diagnoses increased since Itkin developed his method to see the lymphatic system, Sanders writes.

"New tests reveal new diseases," Itkin said.

How the patient finally got relief

According to Sanders, Itkin injected a glue into the patient's lymphatic vessels to stop the leaks—and within days of the treatment, the patient reported that the coughing, mucus production, and shortness of breath he had experienced throughout his life had stopped entirely.

Three years later, the patient—who is now 68—is feeling well and still is working, with no immediate plans to retire (Sanders, New York Times, 2/12).