Think Like a Doctor: A Cough Solved

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.

View the original article here

Health: Think Like a Doctor: A Cough That Won’t Quit

The Challenge: Can you figure out what is wrong with a previously healthy 75-year-old woman with a cough that just won’t quit?

Every month the Diagnosis column of The New York Times Magazine asks Well readers to take on a difficult case and offer their solutions to a diagnostic riddle. This month’s case revolves around a lively, elderly woman — a patient of mine — who suddenly develops a cough that persists and worsens over the course of several months. I’ll provide you with the notes, labs and imaging that amassed over the half a year it took to come up with an answer.

The first reader to provide the correct diagnosis gets a signed copy of my book “Every Patient Tells a Story” and the satisfaction of solving a case that had me pulling my hair out for weeks.

The Patient’s Story:

“Dr. Sanders, I’m still sick.” The slender 75-year-old woman shook her head sadly. “I hate to be a bother, but you’ve got to help me with this cough. It’s just about killing me.”

Her face was pale; there were dark smudges beneath her eyes, and she’d lost a lot of weight. Whatever she had, if it wasn’t killing her, it certainly was making her sick.

The Patient’s History:

Her problems had started a few months earlier. She’d come in to see me with a simple cough. It had started with a cold, but that infection was long gone and all that remained was this cough.

It was strange, she told me back then. She’d be fine during the day, with the occasional cough — but at night, when she lay down, it was unbearable. Indeed, she had slept in a chair the past two nights because in bed she kept waking up to cough.

Then, the day before, she’d had this strange pressure in her chest during one particularly forceful paroxysm. That scared her enough to pick up the phone and make an appointment to see me. It must have been quite a fright, since I usually saw her no more than once a year. It wasn’t that she didn’t like me, she told me the few times I’d seen her in the past; she just didn’t like doctors.

Although she was worried at that initial visit, I wasn’t. Her report that she’d spent the past couple of nights sleeping in a chair might have been a concern in some of my patients, since one sign of heart disease is this inability to lie down flat, but this woman had no risk factors for heart disease other than her age. She didn’t smoke — and never had. And she was in great shape. At 75 she had no medical problems; she ate right, and she exercised almost every day. She was one of my healthiest patients.

Her physical exam was normal that first visit. So was her EKG. I figured she probably had some leftover bronchospasm from a resolved upper respiratory infection. Or maybe this was bronchitis. So I gave her an inhaler to calm her twitchy airways and a short course of antibiotics, and I really expected the cough to disappear.

But the cough persisted. Indeed, each time she returned to my office or talked by phone over the next few months, her cough was just a little bit worse and she was a little sicker. None of the tests I’d ordered were particularly revealing, and none of the medications I had prescribed had helped. She was starting to get frustrated, and so was I.

In the Exam Room:

Seeing her now, I was more than frustrated; I was worried. She’d lost a lot of weight. Her normally thin face looked gaunt, and the fat that normally pads the temples and forehead was gone. Her eyes were tired and puffy. And she couldn’t get more than a few words out before a new paroxysm of coughing cut her off.

She couldn’t sleep, she told me between bursts of her barking cough. And she had no appetite. Even when she was hungry, the constant coughing made eating almost impossible. She had a new symptom as well: abdominal pain.

On exam, once again, I found nothing. She had no fever. Her lungs were clear. There were no enlarged glands suggesting an unresolved infection. Her abdomen was soft and had no tenderness. However, now when she coughed, dark yellow mucus came up. Whatever she had, it was clearly getting worse.

“Can’t you give me something for this cough?” she asked me once more.

The Most Common Symptom:

Cough is the most common single reason for a visit to a primary care doctor. Most of the time it’s caused by an upper respiratory infection or cold. But that type of cough usually resolves on its own. A persistent cough — like my patient’s — was a different story. It had many possible causes. The most common was some kind of environmental allergy. I treated her with antihistamines. They didn’t help.

Heartburn (also known these days as reflux) can also cause a cough, as the acid from the stomach irritates delicate tissues never designed to withstand it. I tried a couple of different types of anti-acid medications. They didn’t help either.

She said she never wheezed, but she did have some chest tightness and on occasion felt short of breath. Was this asthma? I gave her another inhaler. It didn’t work any better than the first one.

Those three diagnoses — allergies, reflux and asthma — were why most people kept coughing, most of the time. She clearly didn’t have what most people had. So what was left?

Could it be lung cancer? She had never smoked, but 10 to 15 percent of those who are found to have lung cancer didn’t smoke. Could this be tuberculosis? She had traveled throughout rural Central America decades earlier, so she could have been exposed.

A chest X-ray might have shown either of those diseases — but didn’t. In fact, it was completely normal. So was a second one, done weeks later when she still was no better.

I sent her for pulmonary function tests. The report said her lungs weren’t exactly normal, but the technician commented that her constant coughing made the test difficult to interpret. You can read the pulmonary function test report below.

The Right Test:

Now she was back in my office, sicker than ever. I was frustrated and starting to get nervous. Her weight loss was worrisome. And she had this new abdominal pain.

I had already referred her to a gastroenterologist to look for any evidence of reflux or even a malignancy. She was to get scoped the following week.

In the meantime, I sent a sample of her purulent sputum to the lab to culture. When those results were also unrevealing, I decided to get a chest CT — and finally, finally found something abnormal.

ACT scan of the patient’s lungs, with a magnification on the right.

Throughout the right lung there were areas of scarring and what is known as bronchiectasis, a particular type of scar tissue where the elastic component of the delicate airways appears stretched out and dilated, like a floppy waistband of a much-washed pair of shorts. (Bronchiectasis is visible in the area of magnification.)

Now I was worried and confused. Worried because this kind of lung injury made a patient prone to getting more infections. And confused because it wasn’t at all clear to me how this patient got it in the first place. Bronchiectasis is usually seen in patients who have a long history of serious lung infections. And this woman had had pneumonia a couple of times in the past decade, but otherwise nothing. I had an answer, a diagnosis, but not one that made sense. At least not right away.

It took me some time to figure it out, but I finally did.

What about you? Can you figure out what this woman had? And what test would you order to confirm it?

Friday June 7 3:08 p.m. | Updated Thanks for all your responses! You can read the correct answer at “Think Like a Doctor: A Cough Solved!”

Rules and Regulations: Post your questions and diagnosis in the comments section. The correct answer will appear Friday on Well. The winner will be contacted.
View the original article here