One of the first things she noticed was how she had to keep clearing her throat. Everyone does it every now and then, but for her, a healthy woman in her early 70s, it had become constant. Her husband never complained. He was a surgeon, and when the throat-clearing started, he showed her a few breathing exercises. Those were sometimes helpful, but eventually she would be ahem-ing every few minutes again. Even more annoying was that any exertion could trigger a strange, harsh-sounding wheeze. Even when she was on the phone, she often muted herself so friends and family wouldn’t worry.
Her primary-care doctor wasn’t worried. Her lungs were clear; her oxygen saturation was fine. She saw a cardiologist, who pronounced her heart to be in good shape after a vigorous stress test.
Despite the reassurance, she noticed that she was getting winded more easily. In Europe with her granddaughter, she walked 20,000 steps a day on the mostly flat streets of Paris, but the hilly cobblestones of Montmartre left her huffing and puffing. She knew she had to figure this out. But when she got back to her home in Cupertino, Calif., Covid hit, and everything shut down.
During that time, the stairs in her home became her measure. For decades, she went up and down those steps many times a day, no problem. She had become used to the harsh wheeze the stairs seemed to trigger, but now she felt out of breath by the time she reached the top. Then she had to stop halfway up. Then after just a few steps.
Finally, when the pandemic eased after a terrible year and a half, she saw her primary-care doctor and then a bunch of specialists. Her lungs sounded clear, and a chest X-ray was normal. Was this asthma, or some kind of allergy? A variety of inhalers and an antihistamine were ineffective; an examination of her nose and throat with a tiny scope found nothing. A CT scan of her lungs wasn’t totally normal: She had a few little nodules, and so seven months later she had another scan to see if any of the tiny dots had changed. They hadn’t — probably just scars from some past infection. It was discouraging to hear that everything was fine and at the same time know that it wasn’t.
The doctors didn’t know what else to do, and neither did the patient. Her husband asked his colleagues. He called an old friend, Dr. James Wolfe, in nearby San Jose. Wolfe was a lung doctor as well as an allergy specialist. Even though the antihistamines hadn’t helped, maybe allergies were playing a role.
Something Other Than a Wheeze
Weeks later, the patient and her husband sat in Wolfe’s exam room. As they waited for the specialist, the husband said to his wife: Can you jump up and down a few times so the doctor can hear what you sound like when you are a little out of breath?
It worked. As Wolfe greeted his old friend, he noticed the patient’s noisy breathing. But it was obvious to him that this wasn’t a typical wheeze. Those usually occur during exhalation. This woman’s breath was noisiest when she inhaled — a type of wheeze known as stridor. This is an important observation, because the causes of stridor are different from other types of wheezing. Stridor is usually caused by blockages in the upper airways — from vocal-cord dysfunction or swollen tissues in the nose or throat. That was puzzling; her upper airways had already been examined. They were fine.
Wolfe had the patient do a second breathing test when she arrived. The first, done a year earlier, was completely normal. This one wasn’t. The changes were subtle but real. The amount of air she could get out in a forced exhalation was less than it was when she was tested the year before.
Could this be some tough form of asthma, considering that the usual medications hadn’t helped? Or was this some kind of slow-growing lung infection? There is a bacterium, a distant cousin of tuberculosis, called mycobacterium avium complex (MAC), which can cause coughing, shortness of breath and phlegm production. It is rare but is most often seen in older women. It’s thought to be caused, at least in part, by a woman’s reluctance to cough and clear mucus and other secretions from her lungs and airways. It’s called Lady Windermere syndrome, after a character in an Oscar Wilde play. Lady Windermere is a very proper young woman of the Victorian era who presumably would be too well behaved to cough or show other signs of illness. The nodules in the patient’s lungs that showed up on her CT scans could be the earliest sign of such an infection.
Wolfe ordered a series of tests to look for each of these disorders. He also ordered another CT scan of her lungs — her third — to see if the nodules had changed in the months since her last scan.
Flipping Through CT Images
Dr. Emily Tsai, a radiologist who specialized in imaging of the chest at Stanford University School of Medicine, sat in a darkened room looking through the more than 300 images of the patient’s new CT scan. Although you could look at each image separately, it is often more useful to view them sequentially, like a flipbook in which drawings turn into moving pictures. In this way the radiologist can take a three-dimensional tour through the examined chest, following the blood vessels and airways as they appear, progress and end in this animated show.
Tsai had developed her own system: First she would look through the image as a whole, seeking obvious abnormalities and getting the lay of the land. She compared the newest views with the earlier images. Then she would focus on the part of the lung where there were reported or expected abnormalities. In this woman’s case, she looked where the reported nodules had been located. There was a little scarring — where the narrow treelike branches of the airways got stretched out and baggy in what was called bronchiectasis. That could certainly go along with a diagnosis of MAC infection. Then she took another careful look at all the other parts of the chest. In images like these, filled with so much information, a radiologist has to review the images as closely as possible. No one can see everything. Maybe artificial intelligence will get there one day. But she tried to see what was there.
As she scrolled to the very top of the image, she saw something that seemed a little abnormal. The trachea, the breathing tube that connects the upper airways of nose and mouth to the lower airways of the lungs, seemed to be strangely narrow near the top. The narrowing was less than a centimeter long before it widened out to the normal diameter. Tsai found the same narrowing in the other CTs and reviewed the reports to see what previous radiologists made of this finding. Neither mentioned it at all, perhaps because it looked like a tiny puddle of secretions. The key was that it was the same in all three exams. Secretions move around. This narrowing, whatever the cause, did not. Tsai wasn’t sure what to make of it, but in her report she suggested that it could be contributing to the patient’s symptoms.
When Wolfe saw the radiologist’s report, he realized that this narrowing of the trachea could be the cause of all of the patient’s symptoms. How had it happened? She had never needed a breathing tube placed in her trachea during surgery or a serious illness — that was the most common cause of this type of unusual finding. Wolfe ordered further tests to look for possible infections or inflammatory causes of the narrowing. All were unrevealing. It wasn’t MAC or any of the other causes Wolfe could think of or test for. Ruling out everything gave him her diagnosis: She had idiopathic subglottic stenosis. Idiopathic meant that the cause was unknown. Subglottic identified the location in the trachea, just below the vocal cords. It is a rare and poorly understood disorder seen almost exclusively in middle-aged women. Because her narrowing was causing her to be short of breath, the stricture needed to be opened.
Wolfe sent her to a surgeon who used a balloon to widen the narrowed tract. The patient told me that she could feel the difference as soon as she woke up. And in the eight months since her surgery, she has regained all that she lost. Within days, she was able to run up and down her hallway stairs once more.
Lisa Sanders, M.D., is a contributing writer for the magazine. Her latest book is “Diagnosis: Solving the Most Baffling Medical Mysteries.” If you have a solved case to share, write her at [email protected].
