On Thursday, we challenged Well readers to unravel the mystery of a 75-year-old woman with a cough that lasted for months. In addition, we asked you to tell us what kind of test you would order to clinch the diagnosis.
The correct diagnosis is…
Lady Windermere syndrome
And the necessary test is…
A culture of the patient’s sputum
More than 300 readers posted a response, and nearly one in 10 readers came up with the correct answer. Dr. Andrea Glassberg, a pulmonologist in Oakland, Calif., was the first to provide the correct answer as well as the appropriate test to confirm the diagnosis. One look at the chest X-ray, which she thought was not normal, suggested a problem in the lower half of the right lung, and that made her think of Lady Windermere syndrome, which is most commonly found in that part of the lung.
The Diagnosis:
Lady Windermere syndrome is an infection of the lung caused by mycobacterium avium-intracellulare, a bacterium related to the bug that causes tuberculosis. This bug is ubiquitous and commonly found in dust and dirt, in households and farmyards. It rarely causes disease in those who have a working immune system.
In 1992, two researchers published a report of six older women who developed a persistent cough along with night sweats, weight loss and shortness of breath. The women were all healthy and thin and had no history of smoking. All grew out mycobacterium avium-intracellulare, or MAI, from their lung secretions.
The authors named it Lady Windermere syndrome, after a fastidious character in the Oscar Wilde play “Lady Windermere’s Fan.” They postulated that the women who developed this infection were too “proper” to cough when they got this bronchitis and so ended up with a persistent infection in the lungs. (In the play, Lady Windermere is in her early 20s and in robust health, though she was a Victorian lady and so possibly too proper to cough, although Wilde doesn’t actually go there.)
Since then, hundreds of cases of this disorder have been described. Although current thinking is that the anatomy of the part of the lung where this infection is most commonly seen — the middle part of either lung — may play a more important role than cough suppression in how the infection gets a toehold, the name has stuck.
Unlike its first cousin, tuberculosis, MAI is not contagious, but when it does cause disease, it can be serious and, rarely, life-threatening. No one has figured out why thin elderly women seem to be at greatest risk for infection from this normally pretty feeble bacterium.
How the Diagnosis Was Made:
A couple of days after I saw the patient, I was out running and I found myself thinking about an old friend, a tall, willowy woman in her late 60s. Knowing how I loved weird cases, she had, a couple of years earlier, written to me the story of her own illness. And suddenly it clicked. Like my patient, my friend was an older woman who developed a persistent cough. It took her doctor weeks, but he finally figured it out: Lady Windermere syndrome.
Was this what my patient had? I called the patient right away and told her what I was thinking. Then I ordered the CT scan of her chest. Reading up on the disease, I knew what to look for. One of the characteristic findings of this infection on a CT scan is an abnormality called tree-in-bud: tiny nodules at the end of long bronchial ‘‘branches’’ in the lung.
The Right Answer, the Wrong Test:
The CT report came back within days. It showed, as I mentioned in the last post, lots of scarring, lots of bronchiectasis, but none of the characteristic tree-in-bud formation I’d been looking for. Was I wrong here?
A common aphorism of medicine rang in my ears: An unusual presentation of a common disease is far more likely than even a classic presentation of a rare one. And yet, this diagnosis seemed like such a perfect fit. Before I gave up on it, I wanted to get a better look at the CT scan.
I sought out my favorite radiologist, Dr. Eric Hyson, and together we looked at the scan. Was there tree-in-bud? He examined the images slowly and carefully. Yes! He pointed to an area at the lower right edge of the lung. I had ordered the wrong type of scan, so it was hard to see, but it was there. The buds are in the area of magnification.
Treatment Success; Treatment Failure?
I called the patient. I needed to look for traces of the bacterium in the purulent stuff she was coughing up. But because MAI isn’t very aggressive it would take weeks for a culture to grow and confirm the diagnosis.
Normally, treatment of MAI requires three different antibiotics over the course of one to two years. Anything less and there is an increased risk of the infection, only partly treated, coming back. I didn’t want to subject the patient to that kind of chemotherapy until I was certain she had MAI, but I also didn’t want to wait months before treating her. I decided to start her on a 10-day course of one of the recommended antibiotics and crossed my fingers.
It took a while — and a second round of antibiotics — but she got better. The coughing stopped. So did the chest pain. She regained her lost pounds and was able to sleep in her own bed. Indeed, she was so much better that when the culture finally grew out MAI, confirming the diagnosis, she refused any further treatment.
She told me that from her perspective, the cure I was proposing — month after month of three different antibiotics — was worse than the disease, or at least the risk of a recurrence of the disease. She felt fine, she told me, so she’d just take her chances. That was a year ago.
The patient called me recently. She’s had a little cough for the past few weeks, she told me anxiously, though she doesn’t have any of the other symptoms and coughs only a few times a day. Still, she’s a little worried. I suspect her infection is trying to make a comeback; she’s not so sure. I guess we’ll both find out soon enough.