Tag: Think Like a Doctor

Think Like a Doctor: The Boy With Nighttime Fevers Solved!

Andreas Samuelsson

On Thursday we asked Well readers to take on the case of a 7-year-old boy who’d been having fevers and drenching sweats nightly for over a month. More than 300 of you wrote in, and although 20 of you came up with the right diagnosis, only three of you figured out both the diagnosis and the test needed to confirm it.

The correct diagnosis is…

Coccidioidomycosis, or valley fever.

The diagnosis was made based on a lymph node biopsy.

The first reader to suggest this diagnosis and the test was Dr. Malkhaz Jalagonia, an internist from Zugdidi, in the Republic of Georgia. He says he’s never seen a case like this, but he’s fascinated by zebras and so recognized the disease immediately. Well done, Dr. Jalagonia!

One of the reasons I chose this case was that, although this diagnosis is rare in life, it was the most frequently suggested diagnosis in my last column – the one about the middle-aged man with a cough for over a year. I thought it would be fun to show what valley fever really looks like. Hope you did too.

The Diagnosis

Coccidioidomycosis is a lung infection usually caused by inhaling the spores of a tiny fungus called coccidioides. This organism grows as a mold, a few inches below the surface of the soil in deserts in parts of the southwestern United States, Mexico and other countries of Central America.

In dry conditions, the fungus becomes fragile and is easily broken up into tiny single-celled spores that can be sent airborne with even the slightest disturbance. And once these single cells are aloft they can remain suspended there for prolonged periods of time.

Infection is usually acquired by inhaling the spores. Once lodged in the lung, the organism begins to reproduce almost immediately. The time course between exposure and disease depends on the inhaled dose and the patient’s immune system.

Symptoms, or No Symptoms

Disease severity varies considerably. Nearly half of those who breathe in these spores have no symptoms, or symptoms are so mild they never visit the doctor’s office.

More severe infection usually takes the form of a slowly progressive pneumonia known as coccidioidomycosis, or valley fever. This illness is characterized by a cough, fevers, chest pain, fatigue and sometimes joint pain. Indeed, because of the prominent joint pain, in some cases — though not this one — the disease is also known as desert rheumatism.

Rashes are also seen in many patients. Those who get a rash seem to have a more benign course of illness. The thinking is that the skin symptoms are the result of an aggressive immune response in the host to the pathogen.

Symptoms can last for months, and in many cases they resolve without treatment. But in some cases they get worse.

Hard to Diagnose

Those who seek medical attention are often not diagnosed — or not diagnosed quickly — because the symptoms of valley fever are not very specific, and few of the tests that doctors usually order have features that are unusual enough to suggest the diagnosis.

Chest X-rays are often normal. Blood tests may be normal as well, though some patients, like this child, have an unusually high number of a type of white blood cell known as eosinophils. These cells are usually seen in allergic responses or with infections due to parasites.

The most important clue to the possibility of this infection is travel to one of the areas where the fungus lives. In the United States, valley fever is endemic primarily in Arizona and southern California, as well as parts of southern New Mexico and West Texas. Indeed, the name valley fever is a shorter and more general term for an earlier name, San Joaquin Valley fever, because it was so common in that part of California.

A Dramatic Rise

There has been a significant increase in the number of cases of coccidioidomycosis in the past 15 years, with nearly 10 times as many in areas where the fungus is found. Development in areas where the fungus is endemic is thought to be the primary cause. Better diagnostic testing may also play a role.

While this infection may cause only a minor illness in many, there are some – like this child – for whom the disease can spread beyond the lungs into the rest of the body. Disseminated coccidioidomycosis is usually seen in those with some problem with the immune system – an underlying disorder such as H.I.V., for example, or because someone is taking immune suppressing medications such as prednisone.

Once out of the lungs, the bugs can go anywhere in the body, though they seem to prefer joints, skin or bones. Those with disseminated disease have to be treated for a long time – often up to a year, or occasionally for life.

How the Diagnosis Was Made

The little boy had been sick for nearly a month, and his parents were getting quite worried. He was pale, thin and really, really tired.

With their pediatrician’s encouragement, they had gone on a long planned, much anticipated vacation to the mountains of Colorado. But the child wasn’t getting better, and so his mother took him to yet another doctor – this one in a walk-in clinic.

The results of some simple blood tests done at that visit worried the doctor, who suggested that the boy be taken to a hematologist, a specialist in diseases and cancers of the blood.

Now the parents were terrified. The mother faxed copies of the lab results to her brother, a researcher in immunology. He wasn’t a physician but showed the results to friends who were. They agreed with the doctor at the walk-in clinic: The boy needed to be seen by a hematologist.

A Series of Specialists

The next morning the family headed home to Minneapolis. They took the boy to his regular pediatrician, who sent them to a hematologist. It wasn’t cancer, that specialist told them. Maybe some kind of severe food allergy, he suggested, and referred them to a gastroenterologist.

Not a GI thing, that specialist told them, and he referred the now nearly frantic family to an infectious disease specialist and a rheumatologist.

Nearly 10 days after getting the alarming blood test results, the couple and their child found themselves in the office of Dr. Bazak Sharon, a specialist in infectious diseases in adults and children at the University of Minnesota Masonic Children’s Hospital. After introducing himself, Dr. Sharon settled down to get a detailed history of the boy and the family.

A Desert Visit, but Other Possibilities

When Dr. Sharon heard that the family had spent a week at a ranch in the desert of Arizona, he immediately thought of coccidioidomycosis. The fungus isn’t found in Minnesota or Colorado – which is probably why other doctors hadn’t considered it. But it is all over the part of Arizona where they’d visited.

Still, there were other possibilities that had to be ruled out, including some types of cancer. After Dr. Sharon examined the boy, he sent the family to the lab for a chest X-ray and some blood tests.

The results of those tests were concerning. The child was getting worse. Dr. Sharon wasn’t going to be back in clinic for a week, and he was certain the child needed to be seen and diagnosed well before then. He called a friend and colleague who was taking care of patients in the hospital, Dr. Abraham Jacob, and asked if he would admit the child and coordinate the needed diagnostic workup for the boy.

First Some Answers, Then More Questions

Once in the hospital, the child had a chest CT scan. The results were frightening. The lymph nodes that surround the trachea, the tube that carries inspired air to the lungs, were hugely enlarged. They were so big that the trachea was almost completely blocked. The opening at one point was just two millimeters wide – basically the dimensions of a cocktail straw. Any worsening of his disease might cause the tube to close completely, making breathing impossible.

A pediatric surgeon was brought in immediately. The enlarged lymph nodes had to be removed. First in order to protect the child’s airways. And second because those nodes would reveal what the little boy had.

But trying to do surgery on a 7-year-old boy’s neck was complicated. Although the surgeon could easily feel the enlarged gland in his neck, it was close to many vital blood vessels, nerves and organs. The child had to lie perfectly still, and with most children that could only be guaranteed if they were under anesthesia.

Risky Surgery

When the anesthesiologist saw the CT scan, the doctors’ concern grew. They could put the child to sleep, but if anything went wrong during surgery and they had to put a tube down his throat into his lungs, they weren’t sure it would be able to fit.

The trachea was so small, there was no guarantee they could get the tube into place. In order to do this safely, they said they needed to use a technique known as ECMO, or extracorporeal membrane oxygenation – basically a machine that allows them to oxygenate blood without sending it to the lungs.

Rather than subject the child to this risky procedure, Dr. Jacob and the surgeon decided to just take a piece of the lymph node out in order to make the diagnosis. Treatment of whatever the boy had would bring the size of the lymph node down.

Don’t Make a Move

When the boy was brought to the procedure room, the surgeon explained that he was going to put numbing medicine all around the bump in the boy’s neck and take out a piece of it. The child listened calmly and agreed.

He wasn’t to move at all, the surgeon explained. The child nodded solemnly. He understood. The boy was remarkably mature and so brave throughout the entire process of anesthetizing the region that the surgeon thought he might be able to continue and get the entire node out.

He paused in his surgery and consulted the parents. Would they allow him to try this? Their son was doing so well he was sure he could get it. They agreed, and the surgeon returned to his task. The lymph node came out without difficulty.

It was sent to the lab and the answer came back almost immediately. The swollen tissue was filled with the tiny coccidioides. You can see a picture of these little critters here.

A Year of Medicine

The boy was started on an intravenous medicine for fungal infections. Then after a week it was changed to one he could take by mouth.

Because the infection had spread beyond the lungs, the child will have to take this medication for a year. After starting the medication, the child began to look a little better. Slowly he was less tired. Slowly he started to eat the way he used to.

It was a long road to the diagnosis, and an even longer road to cure, but at least they were on the right one.

A Perfect Storm?

The mother called the ranch in Arizona where they stayed to let them know what had happened.
The owner told them that their son was not the only person visiting then who got sick. At least one other guest, there at the same time, had come down with the disease.

Apparently the conditions for spread were perfect. Their stay had started off with some rain, followed by heat and some brisk wind. The moisture helped the fungus grow; the heat dried it out so that it could become easily airborne and inhaled when lifted by the wind.

Although the family has loved their visits to this ranch – this was their second year – the child’s mother tells me that she’s not sure she’ll be going back, at least for a couple of years. Most people exposed to valley fever become immune forever, but because her little boy was so very sick, she’s planning to wait a while before they return.

Think Like a Doctor: The Boy With Nighttime Fevers

The challenge: A healthy 7-year-old boy suddenly starts having fevers and night sweats. Can you figure out why?

Every month, the Diagnosis column of The New York Times Magazine asks Well readers to sift through a difficult medical case and solve a diagnostic riddle. This month we present the case of a boy who has fevers topping 102 degrees every night for over a month. His parents sought help from nearly a dozen doctors in two states before a diagnosis was made.

Below I’ve given you the information that was available to the doctors who figured out the cause of the boy’s fevers. It’s up to you to use this information to put his story together for yourself.

As usual, the first person to crack the case gets a copy of my book, “Every Patient Tells a Story,” and, of course, that fabulous feeling you get when you solve a really tough puzzle.

The Patient’s Story

“I think you need to take him back home.” Her brother’s voice was calm, but she could hear an undertone of anxiety even over the poor cellphone reception that was all she could get from rural Colorado. “He needs to see a hematologist. It could be a virus, but it could also be something else.” He didn’t say it, but she knew what he was thinking: cancer.

Her son, just 7 years old and always a little delicate, had been sick for nearly a month. He was fine during the day, but every night he’d spike a fever of 102 or 103.

Even before they’d come to the mountains for a much needed vacation, she’d taken him to see his pediatrician at home in Minneapolis several times. At each visit, the doctor or one of his partners had looked the boy over closely, and each time he’d seemed fine.

It was probably viral, she was told, time after time. But he seemed to be having one viral infection after another.

A Vacation Cut Short

The day before they left for Colorado, the boy’s father took him to the doctor’s office one more time.

Maybe it wasn’t viral, the pediatrician acknowledged, and prescribed a “Z-pak” — a five-day course of azithromycin. Don’t cancel the trip, the doctor reassured him. He’ll get better.

But he hadn’t. While on vacation, his mother took him to a walk-in clinic, where they’d checked his blood. A worried looking doctor told her that he didn’t know what was wrong with her boy. He should probably see a cancer specialist.

Now she was really worried. There weren’t any specialists anywhere near the bucolic town where they were staying. That’s when she’d sent the test results to her brother, a researcher in immunology. He wasn’t a doctor, but he passed the results to friends who were, and they were worried, too.

Thin and Pale

The family headed home right away, but the 4th of July was coming. They couldn’t get in to see a hematologist until Tuesday.

By now the boy was starting to look sick. He was pale and had dark circles under his eyes. Small for his age — consistently in the fifth percentile for height and weight — he now looked even smaller, thinner. He was a quiet child, always had been. Thoughtful and comfortable in the company of adults, as so many only children are. Even now he never complained.

Nothing hurt. He was simply tired. His fevers started coming a little earlier, peaking a little higher. His mother noticed a cough and wheezing sometimes. Always a picky eater, with these intermittent fevers, very few foods seemed appealing. She tried to hide the terror she felt when he seemed to be fading as she watched.

A Long Line of Specialists

The hematologist examined the boy and sent off more blood. Definitely not cancer, he said. He suggested seeing a gastroenterologist.

The gastroenterologist got an M.R.I. of the child’s digestive system. Nothing there. He noticed the boy’s wheezing and gave him an inhaler, then referred mother and child to a rheumatologist and an infectious disease specialist.

It seemed to the parents that this had to be an infection, but the earliest they could get in to see the infectious disease doctor was the following week. For the boy’s mother, the delay now seemed intolerable.

It had been five weeks since the fevers first started. In that time, the boy had lost nearly 10 pounds. They’d seen eight doctors in two states. They’d all been very nice, thorough, thoughtful, but had no answers.

By the weekend she was desperate. The boy needed to be in the hospital. Couldn’t they see how sick he was? She couldn’t wait for the specialist. She took him to the emergency room of the big university hospital.

The E.R. doctors, like all the doctors they’d seen so far, were kind and thoughtful, and so gentle with her delicate son. But like all the other doctors, they had no answers. They prescribed another inhaler for the boy’s wheezing, since the first hadn’t helped. They also urged her to see the infectious disease specialist. His appointment was just a couple of days away.

TB or not TB?

The boy was sitting quietly between his parents watching a video on his tablet when Dr. Bazak Sharon and the infectious disease fellow he was training entered the exam room. Dr. Sharon’s first thought was that the child looked as if he had tuberculosis.

He’d seen a lot of TB in this clinic, but it was usually among immigrant families who had traveled to Minneapolis from countries where the disease was common. Like this boy, kids with TB were usually thin, sickly looking, pale and quiet. But based on what his fellow told him, the child had no exposures that would put him at risk for this disease. He’d only been out of the country once – to Canada. He’d visited the beaches of South Carolina and the deserts of Arizona, and most recently the mountains of Colorado. But TB was rare in all these locales.

Dr. Sharon introduced himself to the child, who looked up immediately and smiled. How do you feel, he asked the boy? His temperature had been recorded at 103 degrees. I feel good, he’d answered pleasantly. Does anything hurt? No.

His heart was beating rapidly – nearly 140 beats per minute, but that was probably due to the fever. There were several enlarged lymph nodes in the child’s neck and his groin, though none under his arms. Otherwise his exam was unremarkable.

Getting Worse

Dr. Sharon had reviewed the blood tests that had already been done but wanted to see if anything had changed. And given that the only localized complaint was cough and wheezing, he wanted to get another chest X-ray.

Reviewing those studies that night, Dr. Sharon saw that the boy was slowly getting worse. He saw patients at that clinic only once a week and was reluctant to wait that long before having him seen again. He thought they needed an answer much sooner than that.

You can see the note from Dr. Sharon and his fellow here.

Dr. Sharon’s Note

The note from the patient’s visit to the hospital.

To the Hospital

Dr. Sharon called the family the next morning. He’d reached out to one of his friends and colleagues, Dr. Abraham Jacob, who could see them. They should go to the University of Minnesota Medical Center Fairview, where Dr. Jacob would orchestrate a thorough workup. That would be the fastest way to get an answer.

Based on the assessment by Dr. Jacob and his resident and the recommendations from Dr. Sharon, the team reached out to specialists in hematology-oncology and in rheumatology. And since his chest X-ray was abnormal and he had enlarged lymph nodes, they wanted to get a CT scan as well.

You can see the note from Dr. Jacob and his resident here.

Dr. Jacob’s Notes

Here are the notes from the pediatrics department.

Breathing Through a Straw

It was the results of the CT scan that really got things moving. It was the middle of the day when the resident was paged by the radiologist. The pictures showed that the lymph nodes in the boy’s chest were so swollen that they were pressing on the trachea – the breathing tube – so that it was almost completely cut off. Essentially he was breathing through the equivalent of a cocktail straw.

Any additional swelling could cut off the boy’s breath completely. You can see an image from the CT scan here.

This CT scan shows the patient’s chest. In a child of this age, the trachea is normally eight to 12 millimeters wide. Much of the gray tissue surrounding the trachea and esophagus is swollen lymph nodes.

This CT scan shows the patient’s chest. In a child of this age, the trachea is normally eight to 12 millimeters wide. Much of the gray tissue surrounding the trachea and esophagus is swollen lymph nodes.

A normal trachea in a child this age is four to six times the size seen in the scan. The image added even more pressure to make a diagnosis and treat the child before he got sicker.

Solving the Mystery

A diagnosis was made within the next 24 hours. Can you figure out what the boy had, and how the diagnosis was made?

The first person to offer the correct answers to these two questions will get a copy of my book and that sense of triumph that comes from nailing the right diagnosis when it really matters.

Rules and Regulations: Post your questions and diagnosis in the comments section below. The winner will be contacted. Reader comments may also appear in a coming issue of The New York Times Magazine.

Think Like a Doctor: A Cough That Won’t Stop Solved!

Andreas Samuelsson

On Thursday we asked Well readers to unravel the case of a middle-aged man who had a cough for over a year. He was just about to give up on finding a cause or cure when he started coughing up blood. A CT scan done at that point revealed a strange hole near the base of the right lung. Your challenge was to figure out what was going on.

The correct diagnosis is:

An aspiration of a foreign body

Over 400 of you wrote in and a handful of you figured it out. Anne Hartley was the first to suggest that the man inhaled a foreign object. She’s a general internist at Rush Medical College in Chicago. When I asked her how she figured it out she said it was easy. She has two small children and so, she told me, “foreign bodies are always on my mind.” Reading how healthy the patient appeared made it seem even more likely that he had accidentally inhaled something that was now lodged in his lungs. Strong work, Anne!

So he had inhaled something – but what? A couple of you even figured that out. A shout out to Toni Brisby of Britain, who was the first to suspect that the patient had inhaled a seed. Well done, Toni!

The Diagnosis:

The first successful removal of an aspirated object was published in 1897. A small bone was retrieved from the airways of a German farmer using a long metal tube and a set of tweezers. At that time, half of all people who accidentally aspirated objects into their lungs died. That changed dramatically over the next decades when an American ear, nose and throat specialist developed early versions of the tools used to remove such objects. That doctor, Chevalier Jackson, devoted his life to putting these tools to use. A collection of the several thousands objects he retrieved from airways of the children and adults who needed him is on display at the Mütter Museum in Philadelphia.

These days foreign body aspiration is most common in boys between the ages of 1 and 2. The mortality rate is 7 percent in children younger than 4. Only a tiny fraction of aspirations (well under 1 percent) occur in adults, and most of those adults are either elderly or have some underlying condition that makes swallowing difficult – because of some neurological problem, like having a stroke, or because they are impaired by alcohol or drugs. What is aspirated also varies with age. In children, most of the aspirated objects are nuts or seeds.

In adults the most common objects fished out of the lungs were pins or small plastic objects. Foods were a distant second. Most adults sought medical care within 24 hours but some didn’t remember aspirating at all and others remembered only once the object was found, when a bronchoscopy was done to evaluate symptoms – as was the case here. Persistent cough was the most common symptom but recurrent infections were also seen. Presence of the object was often suspected from chest X-rays, which sometimes showed air trapping in the lung beyond the obstruction.

How the Diagnosis Was Made:

Dr. Karen Schmitz was the doctor caring for the 43-year-old man, who went to the hospital after two weeks of coughing up blood (hemoptysis) – the newest development in a cough that had lasted a year and a half. A CT scan showed a strange hole in the lower part of his right lung. Because tuberculosis could cause such holes as well as hemoptysis, he was in an isolation room until the doctors were sure he didn’t have it.

Still, TB seemed an unlikely diagnosis. He had never been exposed to TB and had no real risk factors. And even though he had an impressive cough, none of the usual symptoms of TB were present. He had no fever or night sweats, hadn’t lost weight, and he didn’t feel sick. So even before the tests came back the question became, if it wasn’t TB, what was causing this cough?

He was seen by an infectious disease specialist and Dr. Timothy Clark, a lung specialist. They agreed on the most likely culprits. It could be some kind of fungus – chronic fungal infections can cause few or even no symptoms. He had traveled in Southern California and Arizona, both places where a fungus called Coccidioides often caused asymptomatic disease. Blood tests were ordered to look for common fungi. There was also the possibility that it might be something worse – a lung cancer. Again he had no risk factors – he’d never smoked – but it was a possibility. So doctor and patient decided that the best course of action would be for the pulmonologist to look directly into the patient’s lungs. The test, called a bronchoscopy, was scheduled for the following morning.

The Doctor Is Surprised:

Early the next day the patient was taken to a procedure room to have his bronchoscopy. In this test a tiny camera is threaded into the lungs to look at the lesion using the CT scan to help navigate to the right spot.

The patient was lightly sedated, and moments later Dr. Clark inserted the scope. The lung specialist guided the instrument down the narrow pink corridors of the airways. The goal was to get as close as possible to the hole seen on the scan and take samples of the surrounding tissues. Suddenly the doctor stopped. He saw something – was it a tiny piece of metal? – sitting where the airway forked. He edged the scope a little closer. It was black and smooth with a shape that was strangely familiar. He threaded a tiny gripper through the scope, onto the end next to the camera, and pulled the object out.

“Is that a seed?” he asked. Suddenly the patient said in a slurred voice, “It’s a sunflower seed.” Dr. Clark dropped the tiny object into a specimen cup. “You’re right! It is a sunflower seed!”

Even under the influence of the sedative, the patient was able to remember when he’d inhaled the seed. It was at a baseball game he’d gone to with his older son. He’d bought a bag of sunflower seeds – his favorite snack — and was cracking them open with his teeth when suddenly one seed escaped and went down the wrong pipe. He started coughing immediately as his body fought to expel the foreign object. He coughed for what seemed to be a long time and while he never felt the seed come up, the spasm finally subsided. And he felt fine. He didn’t really think about it again until a couple of weeks later when he started coughing again. He told his first couple of doctors about it, but they pooh-poohed the notion. The interval between the choking event and the onset of the cough made aspiration much less likely. Besides, it’s usually only a problem for the very young or the very old — rarely for the perfectly healthy middle-aged guy.

Did the doctor think that this little seed could account for the coughing that had been killing him for the past 18 months? The doctor nodded. And if it was, he should get better within a couple of days.

The patient was ecstatic. Maybe it was just the relief of knowing that his 18 months of coughing were over or maybe it was the drugs they’d given him for the procedure, but the exuberant man found himself calling out as he was wheeled out the elevator to his hospital room: “Yay, I don’t have cancer. Yay, it was a seed.” He shook the cup with the retrieved seed in time with his chant.

As they watched the man roll out of the procedure room Dr. Clark turned to Dr. Schmitz. “You know I’ve seen this one other time. And it’s funny – we always forget to think of it.”

That was last December. After a couple of days, the cough was completely gone. And once baseball season started this spring, the man was able to enjoy his sunflower seeds just as he always had.

Think Like a Doctor: A Cough That Won’t Stop

Andreas Samuelsson

The Challenge: A 43-year-old man starts to cough every time he takes a deep breath. Can you help him figure out why?

Every month, the Diagnosis column of The New York Times Magazine asks Well readers to try their hand at solving a medical mystery. Below you will find the story of a healthy middle-aged man who starts coughing and just can’t stop. He can’t exercise. He can’t laugh. Sometimes he can’t even talk without interrupting himself with deep, awful-sounding hacks.

Below I provide much of the information available to the doctors who examined him. It took 18 months before a doctor figured out what was wrong. Can you do it any faster? The first reader to offer the correct diagnosis will receive a signed copy of my book, “Every Patient Tells a Story,” and the satisfaction of solving a real-life case.

An Emergency 18 Months in the Making

“You should probably have that checked out in the E.R.,” the nurse suggested to the middle-aged man on the other end of the phone. “And sooner rather than later.” In the next few days? he asked. In the next few hours, the nurse replied.

The 43-year-old man hung up the phone more surprised than worried. He had been dealing with an annoying and persistent cough for a year and a half and none of the doctors or nurses he’d seen in that time seemed to think it was a big deal. Until now – since he started coughing up blood.

He called his wife to tell her what the nurse suggested. After work he was going to drive himself to the emergency room at the veterans’ hospital in downtown Denver. He could hear the relief in her voice when she asked if he wanted her to come with him. No, she had enough on her hands looking after their four children. He’d let her know what they said.

An Abnormal X-ray

In the E.R., the man’s complaint got him seen right away. His chest X-ray was normal, they told him. (The X-ray is shown here)

But when they came back into his cubby wearing masks over their noses and mouths he suspected that the CT scan was not. The scan had shown some kind of hole in his lungs, the E.R. doctor told him. That’s why he was coughing up blood. One of the diseases that can cause those kinds of cavities was tuberculosis. Had he ever been exposed to TB? Not that he knew of. (The CT scan images are shown here.)

Because TB was such a dangerous disease – and extremely contagious — they would have to find out if he had it. If he did, he would certainly need to be treated. And to make sure he didn’t infect anyone while he was being tested, he needed to be in a specialized room – a room where the air he breathed wouldn’t be breathed by anyone else. None of the hospital’s negative pressure rooms were available so they were going to transfer him to Presbyterian/St. Luke’s Medical Center, the big regional hospital just a couple of miles away. They had an available room and would be able to care for him.

You can read the patient’s history and physical from the E.R. here:

Admission Notes

The patient’s notes from the hospital.

The Patient’s Long Story

Dr. Karen Schmitz was the second-year resident assigned to care for the new guy sent over to be tested for TB. She could see the patient sitting up in bed talking on the phone as she secured the mask over her nose and mouth and entered the double-door room that would prevent any air-borne infectives from spreading. As she entered, the patient looked at her, smiled a warm smile, and held up a finger as if to say, “I’ll be with you in a minute.” As he finished up his phone call, the doctor looked at him carefully. He was a robust guy – youthful and healthy looking. He certainly didn’t look like any of the people she’d cared for with active TB. When he hung up, he apologized and the doctor introduced herself. She pulled up a chair and settled in. She knew from what she’d read in the chart that it was going to be a long story.

The bloody cough was pretty new, he told her. It started two weeks earlier. But the cough itself had been around for 18 months. He’d caught it a couple of summers ago, and it just never went away. At first he thought it was bronchitis – he’d had that a lot when he was a kid — but when it lasted for more than a couple of weeks, he went to see his primary care doctor. He’d never had a fever or any other sign of being sick. He had some runny nose and itchy eye symptoms that started weeks before the cough and so he and his doctors thought it was allergies. Or asthma. His doctor prescribed an antihistamine and later an inhaler. They fixed his runny nose, and eased up the chest tightness, but the hacking never slowed down.

He went to an ear, nose and throat specialist who scoped his nose and throat. Completely normal. He had a chest X-ray – also normal.

He saw a pulmonologist who, hearing that he had a little heartburn, started him on a powerful antacid medication. That pill completely fixed the heartburn but didn’t touch the cough.

That first year he’d seen three doctors in a half-dozen appointments, and had a scope, a chest X-ray and a slew of blood tests and still no one could tell him why he was coughing or how to make it stop. So he figured he’d just have to learn to live with it.

Not that he wanted that. Every time he took a deep breath he would cough. In the middle of telling a good story he’d have to stop to cough. Whenever he laughed, he coughed. Dozens of times a day, he coughed. He even had to give up exercising. Any time he exerted himself, even just a little, the cough would kick in with a shocking fierceness. Recently he’d tried riding his bike and just 15 minutes in he had to stop. Even though he was taking it easy, as soon as he started to breathe just a little harder than usual, he nearly keeled over. He had to get off his bike. He was doubled over with the ferocious hacking. Sweat and tears poured down his cheeks. He could hear the rasping sound of his breath between the deep jagged coughs. He wondered if he could even make it home. That was the last time he tried to exert himself. And that had been weeks earlier.

You can see the pulmonologist’s notes here:

Pulmonary Consult Note

The notes from the lung specialist.

The Doctor’s Visit

But eventually, he started to cough up blood. That happened the morning after he’d had another terrible blast of coughing. He’d gone with his wife and four children to Vail for Thanksgiving. As he was packing the car to come home he started coughing and felt as if it would never stop, as if he’d never be able to breathe again. But he recovered, until the next morning when he started to cough up blood. It scared him. And terrified his wife. When it didn’t get better after a couple of weeks, he’d decided to call the hospital, and the nurse on the phone sent him to the E.R.

Now, talking to Dr. Schmitz, he told her he never smoked and rarely drank. And even though it was legal, he never smoked pot either. He had been an officer in the Air Force and now was a real estate agent. He had spent a few months in Kuwait and another few in Saudi Arabia, but that was in the 1990s. He’d traveled a bit – mostly out west, but nothing recent. He took medicine for high cholesterol, the antihistamine and the antacid medicine, but that was it. His exam was unremarkable. Dr. Schmitz listened hard through her stethoscope as she placed it on his chest where she knew the hole in his lung was, but heard nothing abnormal.

She didn’t start him on antibiotics, because she didn’t yet know what she was treating, she told him. Tuberculosis seemed unlikely so she was going to test him for other infections as well. To make sure the team didn’t miss anything, they consulted an infectious diseases specialist and a pulmonologist.

You can see their notes here.

Infectious Disease Consult

Notes from the infectious disease specialist.

Dr. Schmitz checked on her patient throughout the day. He was always on the phone, his computer open, hard at work. So far they were doing nothing for the guy – just watching and waiting for answers. When the TB test came back negative, Dr. Schmitz thought he might very well be the healthiest patient in the entire hospital. Was she right? The patient got his diagnosis the very next day.

Solve the Mystery

What do you think is making this patient cough?

Post your answers in the comment section. I’ll tell you the answer tomorrow.

Think Like a Doctor: The Tired Gardener Solved!

On Thursday, we challenged Well readers to solve the case of a previously healthy 67-year-old gardener who abandoned his garden one summer, alarming his wife and adult children. For weeks this vibrant and energetic man had been the last one out of bed — something his family had never seen before. And his days were interrupted each afternoon with a fever that left him shaking and pale. More than 300 readers suggested diagnoses for this classic presentation of an unusual disease, and a couple dozen of you nailed it.

The correct diagnosis is…

Babesiosis

The first person to identify this unusual infection was Dr. Paige Szymanowski, a resident in her second year of training in internal medicine at the Beth Israel Deaconess Medical Center in Boston. She said she recognized the pattern of a fever with a low blood count, low platelet count and evidence of liver injury. Dr. Szymanowski hasn’t made up her mind what kind of doctor she’s going to be, but she is thinking of subspecializing in infectious diseases. I think she shows real promise in this area. Well done!

The Diagnosis

Babesiosis is caused by the parasite Babesia microti, a protozoa. It is usually transmitted by Ixodes scapularis, better known as the deer tick, the same small arthropod that transmits Lyme disease. Sometimes the two diseases occur together, passed on in the same bite. The disease can also be spread through blood transfusions from an infected donor.

Babesiosis is rare and occurs primarily in the Northeast and Upper Midwest — Minnesota and Wisconsin — regions of the United States. In healthy people it often causes no symptoms. However, those who are over 65 or who have some type of immune suppression – because of a chronic disease or medication – or those who don’t have a spleen are more likely to develop symptoms and can become quite ill or even die from this infection.

Easy to Miss

Babesiosis is difficult to diagnose, and the diagnosis is often overlooked, even in areas where infection is most common. Patients with babesiosis have few, if any, localizing signs to suggest the disease. Fever — which can be constant or, as was the case with this patient, intermittent — is common. So are shaking, chills, fatigue, loss of appetite, abdominal pain and headache. These symptoms, however, are seen in many infections. And indeed, our patient had all of these symptoms, but it took many weeks for him to get a diagnosis.

The diagnosis is confirmed when the ring form of the protozoa is seen on a blood smear, or when the Babesia DNA is detected in the blood. Doxycycline, which is used to treat other tick-borne diseases, is ineffective against this organism. An antimalarial medication (atovaquone) plus an antibiotic (azithromycin) are first-line treatments against this infection. Improvement is usually seen within 48 hours of starting the drugs.

Although the infection will often resolve without treatment, all who are diagnosed with the disease should be treated since, in rare cases, the bug will persist and become symptomatic if a patient later develops some immune system problem or has his spleen removed.

How the Diagnosis Was Made

Dr. Neil Gupta was leading the daytime on-call team at Saint Raphael’s hospital in New Haven, Conn., where the patient’s daughter had taken him. Dr. Gupta heard about this patient when the night team handed off the patients they had admitted on their shift and met him that morning. Seeing how well the patient looked, and hearing that he’d been given the usually benign diagnosis of hepatitis A, he turned his attention to patients who seemed sicker and more in need of thought and care. Until the patient spiked his usual afternoon fever.

One of the ways the doctor’s mind works is to put together pictures of what a disease looks like in a patient. We put these so-called illness scripts together based on our knowledge of the disease plus the patients we have seen who have had it.

When Dr. Gupta heard that the patient had spiked a temperature, he went back to see how he was doing. The patient was pleasant but didn’t say much. Perhaps there was a language barrier — he spoke with a thick Italian accent. Or perhaps he was one of those patients who just don’t focus on what ails them.

Hearing From the Patient’s Family

The patient’s wife and daughter, however, had been much more attuned to the changes in his health and behavior, and what they reported didn’t really sound like hepatitis. Was this the right diagnosis, Dr. Gupta wondered?

He sat down with the family in the nursing lounge and let them tell the whole story as they recalled it. The man had actually been sick for several weeks. He’d had a fever every day. And he was tired. Normally he never sat down, was never idle. These days it seemed he never left the house anymore. Never went into the garden. He just sat on the sofa. For hours.

Sometimes he had pain in his upper abdomen, but never any nausea; he had never vomited. But he did have a cough. This was not the man they knew, the women told him.

Reviewing the Symptoms

Dr. Gupta returned to the patient and examined him, this time quite carefully, looking for the signs common in hep A. The man’s skin was dark but not yellow; and his eyes, while appearing tired, showed no hint of yellow either. His liver was not enlarged or tender. He didn’t look to Dr. Gupta like a patient who had hepatitis A.

The patient did have tests that were positive for hepatitis A, however. Could these tests be wrong? Dr. Gupta suspected that was the case. O.K., if not hepatitis A, what did he have?

The young internist made a list of the key components of the case: He had recurring fevers every afternoon. He had a cough and some upper abdominal pain. Not very specific — except for the repeating fevers.

The labs were a little more helpful. His liver showed signs of very mild injury — again, not consistent with hepatitis A, which usually causes significant liver insult.

However, he did have a mild anemia that had gotten worse over the past three days. He’d had his blood count drawn two days earlier, when he went to the emergency room at Yale–New Haven Hospital. That showed a very mild anemia – slightly fewer red blood cells than normal. The evening before, the patient’s red blood cell count had dropped further. And today, even further. So his red blood cells were being destroyed somehow. To Dr. Gupta, that seemed to be a second important clue. In addition, his platelets were quite low.

Many Possiblities

So, the patient had cyclic fevers, a worsening anemia and a mild liver injury. That suggested a very different set of diseases.

The patient was a gardener and had been treated for Lyme disease. Could he have a different tick-borne illness?

Certainly a number of illnesses could present this way. The cyclic fevers were suggestive of malaria — rare in this country, but still worth thinking about.

Could this be mononucleosis? Or even H.I.V.? Those diseases can affect red blood cells and the liver. And they can last weeks or months. If those tests were negative, he would need to start looking for autoimmune diseases or cancers.

Finally, he would need to review the blood smear with the pathologist. Several of these diseases can provide clues when you look at the blood itself.

An Answer in the Blood

A call came to Dr. Gupta late the next day. The pathologist had tested the patient’s blood for the presence of the Babesia gene, and found it. The patient had babesiosis.

Dr. Gupta went down to look at the blood smear with the pathologist. There, in the middle of a sea of normal looking red blood cells, was a tiny pear-shaped object. It was one of the protozoa.

Dr. Gupta was excited. He pulled up a picture of the tick that spreads the disease and the tiny bug that causes it to show to the family. This was what was making the patient so very sick.

How the Patient Fared

The patient was started on the two medications to treat babesiosis the same day. Twenty-four hours later he spent his first day completely fever-free —the first in several weeks.

After a couple more days, the patient was up and walking around, asking to go home. He went home the following day, with instructions to take his two medications twice a day for a total of 10 days.

That was last summer. This summer, the patient is back in his garden. He is a little more careful to avoid getting tick bites. He wears his long pants tucked into his socks and his wife looks him over every night — just to be sure.

Think Like a Doctor: The Tired Gardener

The Challenge: Can you figure out what is wrong with a lively 67-year-old gardener who develops a daily fever and shaking chills along with chest pain and a dry cough?

Every month, the Diagnosis column of The New York Times Magazine asks Well readers to solve a real-life diagnostic mystery. Below you will find the details of a case involving a retired maker of surgical supplies who starts having daily fevers along with chills, chest pain and a dry cough.

I’ll give you the same information the doctor was given before he made this diagnosis. Will you be able to figure out what’s wrong?

As usual, the first reader to submit the correct diagnosis gets a signed copy of my book, “Every Patient Tells a Story,” and the pleasure of puzzling out a tough but fascinating case.

The Patient’s Story

“NoNo says he doesn’t feel good,” the 9-year-old girl said of her grandfather, handing her mother the thermometer. The woman dried her hands on her apron and took the device. She squinted at the little electronic numbers. Just under 102 degrees.

Her father had been sick for weeks. Feverish, weak, not eating. It was late summer and the tomatoes and eggplants in the garden were ripe, but he hadn’t even walked through his garden for days, so she knew he wasn’t feeling well. But this was the first time he’d admitted that something more serious might be going on.

It was about time. She’d taken her 67-year-old father to several doctors over the past two months. They’d looked him over and given him antibiotics, but it hadn’t helped.

“Tell NoNo that if he’s feeling sick he’s got to go to the hospital,” she told the little girl. She darted back to her grandfather’s room then quickly returned. “He says he’s ready to go.”

The woman wasn’t sure exactly when her father had started to get sick, but six or seven weeks earlier she had noticed that he was no longer the first one out of bed. Instead of being up and out before 7 a.m., he wouldn’t get up until late morning. And he started to have strange shaking chills each afternoon and evening, followed by a fever — regular as clockwork.

He looked sweaty and pale. She asked him what was wrong, but he said he was fine. Or sometimes he’d say he felt a little tired. After an hour or two the fever would pass and he’d just look tired, but the next day, or sometimes the day after, the fever would be back.

The First Diagnosis

The woman first took her father to his regular doctor. Knowing how much he loved to work in his garden, the doctor figured he probably had Lyme disease. It was summertime, and Lyme was common in the area of Connecticut where they lived. Plus, he practically took root in the half-acre garden back behind the house where he lived with his wife and their children and grandchildren.

This was the first summer the woman could remember where her father wasn’t out in his garden every single day. This year it seemed that whole weeks would go by when he did nothing but look out the window at his beautiful handiwork.

Her father took antibiotics for the presumed Lyme. It didn’t help.

A Second Diagnosis

When the patient went for a follow-up visit, he told his doctor that his stomach was bothering him a bit. So he was referred to a gastroenterologist. That doctor diagnosed Helicobacter pylori – a bacterium tough enough to survive the acid environment of the stomach that can cause pain and ulcers.

He took two weeks of treatment for that — three medications to kill the bug, and one to neutralize the acid they thrive in. That didn’t stop the daily fevers, either.

Recently the man’s wife noticed that he’d developed a dry cough. Was this a pneumonia? His doctor gave him yet another antibiotic. And he was still taking that pill when he agreed to go to the emergency room.

Pneumonia?

So three generations — wife, daughter and granddaughter — got in the car with the man they loved and drove to the hospital where the daughter worked.

The emergency room was quiet when they arrived, and after explaining that the patient had been having fevers for weeks, the patient and his entourage were taken into the back so he could be seen right away.

He did have a fever but otherwise looked pretty healthy. The doctors there seemed to focus on the cough and fever. They figured he had a pneumonia that wasn’t responding to the antibiotics he was taking. And when a chest X-ray failed to show any sign of pneumonia at all, the doctors sent him home.

You can see the note from that first visit to the Emergency Department here.

First ER Visit

If Not Pneumonia, Then What?

The next day, the man felt no better. His daughter was distressed. Her father was sick. Antibiotics weren’t working. And he was getting worse.

She called his primary care doctor again. He was also worried, he told her. But he didn’t know what to suggest.

What if she tried a different emergency room?, she suggested. They had gone to Yale-New Haven Hospital initially because that’s where she worked, but what if they went to the smaller branch of the hospital, St. Raphael’s Hospital, less than a mile away. They had different doctors there, and the hospital had a different feel — local and friendly rather than big and academic. Maybe they would find a doctor there who could help them figure out what was going wrong. It was unorthodox, the doctor told her, to shop around emergency rooms. And it wasn’t clear what another E.R. visit might do. But he was also worried about the patient, and it was certainly worth a try.

Another E.R. Visit

So early that evening they all got back into the car and drove to the St. Raphael campus. The E.R. was bustling when the family came in. Once again he had a fever – 101.6 degrees. His family explained how sick he’d been, how tired. And yet when the doctor examined him, he seemed well enough. He couldn’t find anything abnormal beyond the fever.

The labs told a slightly different story. His red blood cell count was low. So were his platelets – a type of blood cell that helps blood to clot. What was particularly strange was that these two findings had been checked the day before at the other E.R. and had been fine. And there was some evidence that he had some liver damage.

And when tested for viral hepatitis — a common causes of abnormal liver tests — he tested positive for hepatitis A and possibly hepatitis B as well.

He was admitted to St. Raphael’s Hospital because of his worsening anemia and viral hepatitis.

You can see the note from this second emergency room visit, and the admission note from the night team here.

The Second ER Note

Admission Note

Fitting the Pattern

The next morning, Dr. Neil Gupta saw the patient. Hearing the patient’s story, and the diagnosis of hepatitis A infection, was a little puzzling. Patients with hepatitis usually have mild flu-like symptoms, with a loss of appetite, nausea and vomiting, plus fatigue, low-grade fever and a generalized sense of being unwell. Certainly this patient didn’t feel well, but he had no nausea, no vomiting. And his fever came in spikes. The pattern didn’t really match.

Dr. Gupta sat down with the patient’s family and reviewed all the symptoms and the timeline. Then he reviewed all the labs. He sent off a bunch of tests.

You can see Dr. Gupta’s note here.

The Doctor’s Note

Solving the Mystery

Dr. Gupta was finally able to figure out what was wrong with this man. Can you?

The first person to figure out what is really going on with this 67-year-old gardener gets a copy of my book and that lovely sense of satisfaction that comes from making a tough diagnosis.

Rules and Regulations: Post your questions and diagnosis in the comments section below. The winner will be contacted. Reader comments may also appear in a coming issue of The New York Times Magazine.

Think Like a Doctor: Sick at the Wedding

Anna Parini

The Challenge: Can you figure out what is wrong with a 38-year-old man who suffers from fevers, insomnia and night sweats after traveling to the mountains of Colorado to be his brother’s best man?

Every month, the Diagnosis column of The New York Times Magazine asks Well readers to try their hand at solving a real-life medical mystery. Below you will find the story of a 38-year-old marketing executive from the Boston area who suddenly becomes sick when he takes his family to his brother’s destination wedding in the Rockies. Within a day of their arrival, the man begins to feel sick, though the rest of his family feels fine.

As usual, the first reader to offer the correct diagnosis gets a signed copy of my book, “Every Patient Tells a Story,” along with that feeling of satisfaction that comes from solving a difficult but really cool case.

The Patient’s Story

“Either you are getting in the car with me to go back to the hospital, or I’m calling an ambulance,” the woman announced. “It’s totally up to you.”

Her husband, 38 and never sick a day in his life, had been desperately ill for more than a week. He’d just gotten out of the hospital that morning, and after being home for less than 12 hours he was worse than ever. Though she couldn’t bring herself to say it out loud, she was worried he might be dying. And though he didn’t say anything, so was he.

It had started at his brother’s wedding, one of those destination events in the mountains of Colorado. And almost from the moment he stepped off the plane, he’d started to feel awful. His head ached. So did his body. His eyes were puffy, and his whole face looked swollen. He couldn’t eat, and he couldn’t sleep. When he went to bed that first night, he tossed and turned, though he felt exhausted. In the morning, when he dragged himself out of bed, the sheets were soaked with sweat.

Just the Altitude?

At first he wrote it off as altitude sickness. The resort was 11,000 feet above sea level, and he’d never been this high up. Though his wife and the kids felt fine, there were others in the wedding party who were feeling the effects of the altitude as badly as he did. One of the bridesmaids fainted at the rehearsal dinner. And an elderly aunt had to leave before the wedding.

The day of the wedding it snowed – in May. The kids were thrilled. His wife took them sledding. He’d spent the day in bed, trying – mostly unsuccessfully — to get some sleep. That afternoon the wedding service seemed to last forever. The tuxedo felt like a straitjacket. There was a pressure in his chest that made it hard to breathe. But he’d stood at the front of the church, proud to be best man to his younger brother.

After the service, the photographer led them outside, trying to capture the spring blossoms covered with snow that made the setting so extraordinary, and he worked hard to exhibit an enthusiasm he was too sick to feel.

By the time he made it to the dinner reception, his whole body shook with violent chills, and his head was pounding. His collar felt so tight he could hardly swallow. He’d been working on his toast for days, so his wife talked to the D.J. and changed the order of the toasts so that he could give his toast early. After completing it, he made his apologies, went back to the hotel and climbed into bed.

Feeling Worse and Worse

He figured he’d feel better when they got to the lower altitudes of Denver, where they’d arranged to spend their last night. But he didn’t. Even when he traveled back to Boston, down at sea level, he didn’t feel any better. He had some business in the city so was staying at a hotel while his wife took the two kids back to their home, an hour away. She was worried but he reassured her he’d be O.K.

But that night, alone in his hotel room, he felt so bad he began to get scared. If this was altitude sickness, he should be better by now. Everything he read on the Internet said so.

Finally he could take it no more. He went to the front desk and asked for a taxi and went to the closest emergency room, at Massachusetts General Hospital.

An Inflamed Heart

Because of his chest tightness, the doctors at Mass General ordered an EKG. To his surprise, it was abnormal, and he was rushed to the cardiac care unit. He hadn’t had a heart attack; they were sure of that. But something had damaged his heart.

After dozens of tests, the doctors told him he had something called myocarditis, an inflamed heart muscle, though they couldn’t tell him why. For three days they searched for the cause of injured muscle. Myocarditis is often due to a viral infection, but the doctors wanted to make sure they didn’t miss anything treatable.

At the top of their list, they worried that he had picked up some kind of tick-borne infection while in rural Colorado. None of the tests came back positive, but they sent him home to finish up a week of the antibiotic doxycycline, just in case.

You can read the notes from Mass General and the infectious disease specialist here.

Admission Note

Infectious Disease Notes

A Short Trip Home

In the hospital he felt a little better. His chest didn’t hurt, and his heart wasn’t racing. His fever went down. On his way home he felt like he was on the mend. His wife wasn’t so sure. And a couple of hours later, when she looked in on him again, she was frightened by how sick he looked.

He was pale and sweaty – the way he’d been in the mountains. And the shaking and fevers were back. His headache was so bad that he was crying with pain, something she’d never seen before. She called Mass General. The doctor there said that if she was worried she should bring him right back. But the prospect of an hour-long drive seemed daunting. She decided to take him to the local hospital one town over.

So, did he want her to call an ambulance, or should they go by car?

Back to the Hospital

The patient’s wife dropped off the kids at a friend’s house, then drove him to Anna Jaques Hospital in Newburyport, Mass. It was late by the time they arrived and the emergency room was quiet.

Dr. Domenic Martinello knocked at the entrance to their hospital cubicle. The patient’s wife looked up expectantly, her face tight with exhaustion. The patient lay motionless on the stretcher; his eyes were sunken, and his skin hung off his face as if he hadn’t eaten much recently. His voice was soft but raspy, and every time he swallowed, his lips tightened in a grimace of pain.

Together, husband and wife recounted the events of the past few days: the wedding, the fevers, headaches, pain in his chest, in his neck and in his throat, the four days in the hospital in Boston.

It was certainly a confusing picture, and Dr. Martinello wasn’t sure what to make of the diagnosis of myocarditis. But the patient had no chest pain now, only the headache, sore neck and painful throat.

He quickly examined him. The patient’s skin was warm and sweaty, and his neck was stiff and tender, especially on the right. He was going to approach this systematically, he told the couple. First he would get a head CT, then a scan of the neck, and then he would do a lumbar puncture – a spinal tap. He felt optimistic that one of those tests would give him an answer.

You can see Dr. Martinello’s note here.

Hospital Note

Solving the Mystery

Dr. Martinello did get an answer. But it wasn’t the one he was expecting.

The first reader to identify the cause of this man’s illness gets a copy of my book and the pleasure of making a difficult diagnosis. The answer will be posted Friday afternoon on Well.

Rules and Regulations: Post your questions and diagnosis in the comments section below. The winner will be contacted. Reader comments may also appear in a coming issue of The New York Times Magazine.

Think Like a Doctor: Packing on the Pounds Solved!

On Thursday we challenged Well readers to take on the case of a 59-year-old woman who had not been able to stop gaining weight. I presented the case as it was presented to the doctor who made the diagnosis and asked for the final piece of data provided by the patient as well as the correct cause of her symptoms.

I thought the tough part of this case was something that few of my readers would have to contend with – that her complaints and past medical history were quite ordinary. Like many of us, she was overweight and she came to the doctor because she had difficulty losing weight. In the background she also had high blood pressure, obstructive sleep apnea and low back pain, knee pain and leg swelling. These are some of the most common reasons patients seek medical attention. Although her problems were run of the mill, the cause was not. And many of you had no difficulty spotting this zebra.

The correct diagnosis was…

Acromegaly

The last piece of data, provided by the patient, was a photograph taken several years before. It was only by seeing the changes in the patient’s face that had occurred over the past few years that the doctor recognized that this patient’s problem was unusual.

The first person to make this diagnosis was Dr. Clare O’Connor, a physician in the second year of her training in internal medicine. She plans to subspecialize in endocrinology. She says it was the swollen legs that didn’t compress that gave her the first clue. Well done.

The Diagnosis

Acromegaly is a rare disease caused by an excess of growth hormone, usually due to a tumor in the pituitary gland of the brain. The disease’s name, from the Greek, serves as a fitting description of the most obvious symptoms: great (mega) extremity (akron). The tumor secretes a protein called growth hormone that signals the liver to produce a substance called insulin-like growth factor 1, or IGF 1, which in turn tells cells throughout the body to start proliferating.

With the flood of IGF 1, soft tissues throughout the body begin to grow. This becomes visible as hands, feet, cheeks, lips and tongue enlarge. Although these are the changes that can be observed, other structures are similarly affected, causing cardiac problems (usually enlargement of the heart muscle or valves), respiratory problems (usually obstructive sleep apnea), metabolic problems such as diabetes, and excessive sweating and musculoskeletal problems such as carpal tunnel syndrome. The patient had all of these problems except diabetes.

Eventually, usually after years of untreated disease, bone will start to expand as well. This patient’s feet weren’t just swollen, the bones themselves were larger. The difference between the patient’s face in the doctor’s office and that in the picture wasn’t due to the years that had passed but to changes in their very structure. The lips, tongue and nose were broader. The bone of the chin was thicker, the cheeks wider.

Worth a Thousand Words

Once Dr. Donald Smith, the doctor who saw the patient at Mount Sinai Hospital, heard the summary of the case from the doctor in training who saw her first, he turned to the patient. Did she have anything to add?

She thought for a moment and then said, “Let me show you a picture.” She reached over to her purse and pulled out her driver’s license. That’s me just a few years ago, she told him. The picture showed an attractive middle-aged woman who bore little resemblance to the one before him. That’s when Dr. Smith knew that there was something more than simple weight gain at work.

It wasn’t low thyroid hormone causing this, he decided. A patient gaining this much weight due to thyroid disease should have other symptoms typical of thyroid disease as well.

Two other possibilities came to mind. Both were diseases of hormonal excess; both were characterized by rapid weight gain. First was Cushing’s disease, which is caused by an overproduction of one of the fight-or-flight hormones called cortisol; the second was acromegaly, which is caused by too much growth hormone.

How the Diagnosis Was Made

Dr. Smith looked at the patient, seeking clues that suggested either condition. He saw that just below her neck on her upper back was a subtle area of enlargement. This discrete accumulation of fat, known as a buffalo hump, can occur with normal weight gain, but it is also frequently seen in patients with Cushing’s disease.

Do you bruise more easily these days, he asked? Cushing’s makes the skin fragile, and it bruises more easily. No, she hadn’t seen that. Did she have dark purple stretch marks on her stomach from the weight gain? The rapid expansion of the abdomen can cause the fragile skin of these patients to develop stretch lines. No, again. So maybe not Cushing’s.

Have you changed shoe sizes in the past couple of years? the doctor asked. Enlargement of the hands and feet is rare but is the hallmark of acromegaly. Yes, she exclaimed. Just a few years ago she wore a size 8. Now she can barely squeeze into a size 13.

Can I look at your teeth, the doctor asked. He saw that there were gaps between most of her teeth. Was that new? Yes. She had been told that was from gum disease. “You don’t have gum disease. You have acromegaly,” the doctor declared confidently. The new spaces were evidence that her jaw had, like her feet, simply grown larger.

Dr. Smith referred the patient to Dr. Eliza B. Geer, an endocrinologist who specialized in diseases of the pituitary at Mount Sinai Hospital. She measured the level of growth hormone and IGF 1. Both were dramatically elevated. The final test was a glucose tolerance test. A sugary drink would normally suppress IGF 1. The patient’s level was unaffected. That confirmed the diagnosis; she had acromegaly. An M.R.I. scan revealed a tiny tumor on the pituitary, and a few weeks later the patient had surgery to remove the growth.

The Real Mystery

From the first moment I heard of this case I wondered, how could this have been missed? How could a woman go through such dramatic changes and not have her doctor think: acromegaly.

And yet this is a diagnosis that is frequently missed. The average time to diagnosis is five years. And, like this patient, most people with acromegaly are seen by many doctors before the correct diagnosis is made. Indeed, it is said that patients are more likely to be diagnosed by a doctor who has never seen them before than by their longstanding regular doctor – because these changes take place slowly, over years.

But in wondering about this missed diagnosis, I suddenly recalled a missed case of my own just over a decade ago. I was a few years into my practice and had a patient who had the same string of common problems: She was overweight, and she had high blood pressure, obstructive sleep apnea, spinal stenosis and carpal tunnel syndrome. She worked hard to keep all of her medical problems well controlled. She was really a model patient. One week she was seen by one of the trainees in my practice. That doctor took one look at her and saw what I had not. She ordered the test for acromegaly. Like this patient, my hardworking patient had clearly had acromegaly for years.

Missing the Diagnosis

How do we miss this disease? Acromegaly manifests itself in two ways. First, by causing a series of ordinary diseases that are among the most common problems that bring patients to the doctor. Most patients with these medical problems don’t have acromegaly.

It’s the second manifestation that may be the real issue for me and other doctors. The disease clearly causes changes in the face. The picture in my head of what acromegaly looks like is based on two actors affected with the disease: Richard Kiel, who played the murderous character Jaws in the James Bond movies, and Ted Cassidy, who played Lurch in the television series “The Addams Family.”

But those images are misleading. These actors had acromegaly during childhood, before their bones had stopped growing, and so the effect of the disease was profound and permanent. Their bodies were literally shaped by the disease. Mr. Kiel was 7-foot-2. Mr. Cassidy was 6-foot-9. Both had an exaggerated version of the facial changes of bony overgrowth, with prominent brows and massive jaws. Because of these dramatic changes, those who get the excess growth hormone before puberty are said to have gigantism, rather than acromegaly.

In contrast, when the disease strikes during adulthood, the bones have very limited ability to grow. The changes are thus more subtle and so, often enough, the diagnosis is missed.

This patient decided to show her doctor the photograph after a remark made by her sister. What’s happened to your face? she asked. That’s when the patient began to believe that the distressing changes she saw in the mirror weren’t just from getting older.

How the Patient Fared

The patient had surgery to remove the tumor nine months ago and now feels great. She had attributed so many of her symptoms – the fatigue, the sweatiness, the pain in virtually every joint — to getting older and heavier. But it’s clear now that they were caused by the hormonal excess.

The bony changes will be with her forever (goodbye, size 8 feet). But she’s happy that she can see her ankles once more and will finally be able to lose some weight.

Think Like a Doctor: Packing on the Pounds

The Challenge: Can you figure out why a 59-year-old woman keeps gaining weight?

Every month, the Diagnosis column of The New York Times Magazine asks Well readers to try their hand at solving a medical mystery. Below you will find the story of a woman who has been gaining weight despite years of work to lose it. Was this, as the patient worried, a result of menopause, or was there something else going on? She was frustrated and aggravated, but should she be worried?

Below I provide much of the information available to the doctor who made the diagnosis. Regular readers may assume that this, like so many of my cases, is the zebra. But is it? The first reader to offer the correct diagnosis, along with the missing piece of data that helped the doctor get there, will receive a signed copy of my book, “Every Patient Tells a Story,” and the satisfaction of solving a real life case.

The Patient’s Story

“I just can’t seem to lose weight,” the 59-year-old woman said quietly. She’d done everything, she told the young doctor. Weight Watchers. Exercise. She drank more water. She ate more vegetables. She tried eating less fat, then only “good” fat. She kept food diaries, downloaded calorie counters. She’d done it all.

And not only was she not losing weight, these past few years she just kept on gaining. Despite all of her hard work, she’d put on maybe 50 pounds in the past year.

More Than Skin Deep?

She decided to go to Dr. Donald Smith, an endocrinologist at Mount Sinai Hospital in New York. She’d seen the doctor years earlier in a documentary on weight loss surgery on TV. The fact that he was an endocrinologist made him a doubly good choice for her because she worried that the real cause of her weight gain was hormonal.

She first met with the doctor in training who was working with Dr. Smith as part of her endocrinology fellowship. She’d never been skinny, she told the young doctor. But she’d never been heavy like this before, either. She was 5-foot-4, and throughout her 20s and 30s she’d weighed 170 to 180 pounds. It was a comfortable weight for her, easy to maintain. Then, in her mid-40s, weight maintenance was no longer easy and the pounds started to accumulate, slowly at first, then rapidly.

She was considering bariatric surgery, but first she wanted to know, was this just a consequence of menopause? She had thyroid disease and had been on the same dose of medication for years. Could something have happened to her body so that the drug was no longer working for her?

The Patient’s History

Did she have any of the symptoms associated with a low thyroid hormone level, the young doctor queried? Fatigue? Oh yes, these days she always seemed to be tired. Had she seen any changes in her hair or skin? No. Any constipation? No. Do you get cold more easily these days? Never. Indeed, these days she usually felt hot and sweaty.

Any other medical problems, the doctor asked?

Oh sure, she replied promptly. She had high blood pressure and high cholesterol — both well controlled with medications. She also had obstructive sleep apnea, a disorder in which the trachea, the breathing tube connecting the lungs with the nose and mouth, collapses during sleep, causing the sufferer to stop breathing and awaken many times throughout the night. But she had a machine that helped keep her trachea open and used it every night.

In addition, she had low back pain from a place where her spine had become narrow. She had knee pain and carpal tunnel syndrome. She didn’t smoke or drink and had worked as a nurse until the pain in her back, legs and hands forced her to retire early.

Big, Bigger, Biggest

After a quick examination, the young doctor stepped out of the exam room. She returned a few minutes later with Dr. Smith. He looked to be in his mid-60s and had a kind face and friendly smile, just as the patient recalled from the TV show she’d seen him on. The young doctor briefly summarized what she and the patient had talked about. When she finished, Dr. Smith turned to the patient and asked if there was anything she’d like to add.

She thought for a moment. All she could say, really, was that she didn’t understand why she was getting so much bigger. She was gaining weight, but it wasn’t just that. Her legs and feet were huge. She used to have nice ankles, but now you could hardly see them. Her regular doctor, a cardiologist, gave her a diuretic, but it really hadn’t done a thing, she told him.

Not Just the Legs

Dr. Smith leaned over to look at her lower legs a little more closely. They were quite swollen. And yet when he pressed his thumb against the skin there was none of the give he would have expected in such bloated-looking limbs. Usually with swelling from edema, which occurs when extra fluid leaks from the blood vessels into the soft tissues, any firm pressure will leave a deep impression.

The presence of apparent engorgement that doesn’t compress suggested that the patient may have a condition called lymphedema, an accumulation of fluid rich in white blood cells that is normally collected from the tissues and then drained through the tiny vessels of the lymph system. If these vessels somehow become blocked, the fluid backs up and the skin around them becomes thick, inflamed and eventually scarred.

It’s not just my legs, the woman added. It was everything. Maybe this sounded crazy, she told him, but she didn’t feel like she was living in her own body. She’d explained this to many doctors. They’d just encouraged her to lose weight.

Over the years, the patient had been to many doctors. You can review some of the lab results her various doctors had ordered in the two years before she’d come to see Dr. Smith.

Review the patient’s lab results from 2013 here.

2013 Labs

The patient’s labs.

Review the patient’s lab results from 2015 here.

2015 Labs

The patient’s labs.

You can also review the note from her last visit to her regular doctor, a cardiologist, here.

Cardiology Note

The patient’s visit with a cardiologist.

Solving the Mystery

There was one more piece of data that led Dr. Smith — eventually — to the answer. Can you figure out what that missing piece of information might be? And the diagnosis it led to?

Post your answers in the comments section. The first reader to figure out both parts of the puzzle will get a signed copy of my book and that special satisfaction of solving a mystery that my readers know so well.

I’ll post the answer tomorrow.

Rules and Regulations: Post your questions and diagnosis in the comments section below. The correct answer will appear Friday on Well. The winner will be contacted. Reader comments may also appear in a coming issue of The New York Times Magazine.

Think Like a Doctor: Hurting All Over Solved

On Thursday, we challenged Well readers to figure out the case of a 36-year-old man with a 20-year history of migrating joint pains along with other strange symptoms. Nearly 300 of you offered thoughtful suggestions of what he might have had. And one out of 10 of you were spot on.

The correct diagnosis is:

Ehlers Danlos syndrome

The first reader to correctly make this diagnosis was Bryley Williams, of New York City. She told me she knows nothing about medicine but found the answer on the Internet by investigating noninflammatory causes of joint pain and pneumothorax. All of the winners of this contest are extraordinary, but I think Ms. Williams may take the prize. She is 15 years old, a freshman in high school in New York City. Well done, Ms. Williams! Maybe you should consider a career in medicine once you graduate.

The Diagnosis

Ehlers-Danlos syndrome, or EDS, is a group of inherited disorders that affect the body’s connective tissues – the skin, muscles, tendons and ligaments that hold us together. Since the 1990s, the disease has been divided into six main types, depending on which connective tissues are most affected. Based on the gene study done in this patient, he was given a diagnosis of the least severe and most common variety, which primarily causes hypermobility of the joints as well as skin that is easily damaged and scars badly.

EDS was probably recognized as early as 400 B.C., when Hippocrates noted that the nomads and Scythians had lax joints and multiple scars. This disorder came to more modern medical attention in the 17th century when, at a medical presentation in Holland, a Spanish sailor by the name of George Albes exhibited his remarkable ability to stretch the skin on his chest out an arm’s length.

The first complete description of the condition was given by a Russian physician, Dr. A. N. Chernogubov, at the end of the 19th century. He presented a 17-year-old boy who suffered from recurrent joint dislocations and easily stretched and fragile skin. The boy had many scars resulting from minor injuries, because these patients do not heal normally. Based on these observations, Dr. Chernogubov predicted that the clinical manifestations were caused by an abnormality of the connective tissues.

That report did not come to the notice of Western Europe for many years. So while the disorder still carries Chernogubov’s name in Russia, in most places it referred to as EDS, after the two physicians who first characterized the disorder in Paris decades later: Dr. Edvard Ehlers and Dr. Henri-Alexandre Danlos.

How the Diagnosis Was Made

The patient, a 36-year-old man with a 20-year history of migrating joint pain, had been to dozens of doctors – internists, orthopedic surgeons, rheumatologists. All had examined him and seen nothing. Indeed, his last rheumatologist kept saying that she wanted to believe that he had this much pain but that she couldn’t find anything physical to cause it.

One orthopedist had asked him if his skin was particularly stretchy or if he was very flexible – obviously thinking of a diagnosis like Ehlers-Danlos syndrome, but the patient said no. He didn’t think he was particularly flexible or that his skin was unusually stretchy. Later, once he had the diagnosis, he showed one of his doctors how he could move his thumb, and the doctor told him that he was popping it in and out of joint. And the geneticist told him that his skin was stretchy enough to fit the diagnostic criteria. Still, it all seemed normal to him. Not extraordinary in any way.

Still, after 20 years of searching, the patient was finally willing to accept that he was just more prone to getting these pains. And he began keeping a list of the types of exercises or activities that seemed most likely to trigger the episodes of joint pain. His wife was unwilling to give up. She continued to search the Internet for answers.

Like Son, Like Father?

The final clue came not from the man’s doctor but from his son’s. The boy, age 11, went to see his pediatrician, Dr. Renee Brand, for his annual physical exam. He was tall and slender, like his father. He had a colt-like awkwardness about him, with arms and legs that looked just a bit too long to be well managed. And he had a stooped posture, as if he spent too much time gazing into a smartphone he didn’t even have. Could he sit up completely straight? Dr. Brand asked. He couldn’t, though he tried.

Later the doctor asked him to bend over so that she could check his spine for scoliosis. He immediately flopped down, his chest almost touching his knees and his hands lying flat on the floor in front of him. Surprised by this remarkable degree of flexibility, Dr. Brand asked another questions. Could he press his thumb down and forward so that he could touch his own forearm with his thumb? He pressed the digit down toward his wrist and, sure enough, was able to make them meet easily.

I think maybe you should take him to see an orthopedic surgeon, Dr. Brand suggested to the boy’s mother. Two weeks later the mom called Dr. Brand with a report. She’d taken the boy to see the surgeo,n and he had in turn recommended that she take him to see a geneticist.

“I thought so,” replied Dr. Brand with satisfaction. Seeing how remarkably flexible the young man was, and how hard it was for him to stand up straight, Dr. Brand thought the boy might have a disorder known as Ehlers-Danlos syndrome.

Getting a Diagnosis

After making the appointment with the geneticist, the boy’s mother sat down at the computer to read up on Ehlers-Danlos. As she read through the descriptions, she could definitely recognize her son. But in those pages she also recognized her husband. Joint pain, check; pneumothorax, check; osteoporosis, check; scoliosis, check. Ultimately this inherited disease was diagnosed in both father and son.

There’s no cure for EDS, but it’s important to know that you have it. The son sees a cardiologist every couple of years, since EDS can lead to problems with heart valves and vessels. He was found to be at risk for a dangerous stretching of his aorta that, without repair, could lead to rupture. And both father and son now understand which exercises are going to be a problem for them – possibly causing joint dislocations or other musculoskeletal injuries.

Not Just ‘Crazy’

For the father, our patient, it’s meant a sacrifice that may sound trivial, but meant a lot to him: He’s had to give up running, his favorite form of exercise. The pounding is just too hard on his joints.

“I kept hoping that I could find a kind of physical therapy that would help me run the way I used to. Now I know I just can’t,” he said. Still, it’s a relief to be able to give a name to his mysterious problems. “It’s proof that I’m not just crazy.”