Sunday, June 18, 2017

Diagnosis: a medical mystery

"The good physician treats the disease; the great physician treats the patient who has the disease." — William Osler, Canadian physician and one of the four founding professors of Johns Hopkins Hospital

WE'RE fans of The New York Times, as you already know. Periodically (little publishing pun) the NYT Magazine that comes with the Sunday paper runs a feature called Diagnosis. Essentially each one is an account of a baffling medical case that a doctor or team of doctors was finally able to solve, although not always soon enough to save the patient. This one has a happy ending. And thank goodness for doctors who take the time to really observe and listen.



Illustration by Andreas Samuelsson

She Had Never Suffered From Anxiety. Was She Having Her First Panic Attack?


By Lisa Sanders, M.D.

June 7, 2017

She didn’t have any urgent medical problems, the woman told Dr. Lori Bigi. She was there because she had moved to Pittsburgh and needed a primary-care doctor.


Bigi, an internist at the University of Pittsburgh Medical Center, quickly eyed her new patient. She was 31 and petite, just over five feet tall and barely 100 pounds. And she looked just as she described herself, pretty healthy. Doctors often rely on patients’ sense of their well-being, especially when their assessment matches their appearance. But as Dr. Bigi was reminded that day, patients aren’t always right.


The patient did say that she had seen her old doctor for awful headaches she got occasionally. They felt like an ice pick through the top of her head, the patient explained, which, at least initially, usually came on while she was going to the bathroom. The headache didn’t last long, but it was intensely painful. Her previous doctor thought it was a type of migraine. He prescribed medication, but it didn’t help. Now her main problem was anxiety, and she saw a psychiatrist for that.


Sudden Panic


Anxiety is common enough, and because the patient was seeing a specialist, Bigi wasn’t planning to spend much time discussing it. But then the doctor saw that in addition to taking an antidepressant — a recommended treatment for anxiety — the patient was on a sedating medication called clonazepam. It wasn’t a first-line medication for anxiety, and this tiny woman was taking a huge dose of it.


The young woman explained that for most of her life, she was not a particularly anxious person. Then, two years earlier, she started experiencing episodes of total panic for seemingly no reason. At the time she chalked it up to a new job — she worked in a research lab — and the pressures associated with a project they had recently started. But the anxiety never let up.


Her first full-fledged attack had come early one fall morning. She was on the subway going to work when she suddenly had a stabbing pain in her head, similar to the headaches she experienced in the past. Then her heart began to pound as if she were running a race. She was drenched in sweat. Her stomach heaved. At her stop, she lurched out of the car and braced herself against the wall of the station. The feeling eased a bit as she took deep breaths. Within an hour she felt fine and forgot about it.


But then the following week, she was driving to the mall when her heart started to race again, and she thought she might throw up. She pulled off the road and called her husband. He had a history of anxiety and suggested it might be a panic attack. He tried to reassure her, but even as the symptoms receded, she was scared they would return. She turned the car around and drove home.


After that, she would have these attacks maybe once a week — then, over time, they became more frequent, often daily. She felt a kind of constant low-level anxiety, knowing the terror could come at any time. She avoided taking public transportation or driving. Her parents often gave her a ride to and from work. She did cognitive-behavioral therapy for nearly a year. She started exercising daily. Nothing seemed to help. Antidepressants had side effects at levels higher than a baby dose. Finally, a psychiatrist started her on the clonazepam three times a day as needed. Now she took a high dose — every eight hours — and it helped. The medication made her feel a little stupid, mentally not nearly as sharp. But it did tamp down her anxiety.


Self-Diagnosis


It seemed obvious to the patient that her symptoms were a response to anxiety. At least two specialists confirmed the diagnosis, and she was being treated for it. And yet to Bigi, the story seemed atypical. Most patients with anxiety had experienced it their whole lives, or at least since adolescence. And the fact that she was taking two medicines for anxiety — one at a very high dose — and still felt anxious was also strange. Bigi wondered if this might be something other than the run-of-the-mill anxiety disorder.


Two possibilities came to mind: a surplus of thyroid hormone or of adrenaline. The thyroid gland acts as a kind of carburetor in the body, adjusting the speed of the body’s metabolism. Set too high, with too much thyroid hormone, everything goes too fast. Adrenaline is produced by the adrenal gland in response to threats, creating the fight-or-flight response. Released inappropriately, it could cause a racing heart. Both were far less common than simple anxiety. But they were worth considering.


During the exam, Bigi looked for any sign of disease. The only abnormality was that the patient’s blood pressure was higher than she would have expected in a slender woman who exercised daily. Other than that, her exam was normal. The patient’s neck might have been enlarged if she had too much thyroid hormone, but it was not. If she had too much adrenaline, her blood pressure might drop drastically when she stood after lying down, a phenomenon known as orthostatic hypotension. But it didn’t.


Bigi figured it probably was anxiety, just as the woman assumed. The doctor reminded herself that an unusual presentation of a common disorder, like anxiety, was much more likely than even a classic presentation of an oddity, like excess hormones. She told the patient to continue to work with her psychiatrist to get her symptoms under control.


Before putting the case to rest, Bigi decided to order a couple of simple blood tests to double check for thyroid or adrenaline abnormalities or clues of any other disorder. Bigi wasn’t surprised when the thyroid test came back completely normal. As many as one in 200 individuals will end up with an overactive thyroid. But when the results of the adrenaline test came back, Bigi was stunned to see that the patient had 30 times the amount of adrenaline normally found in the blood. Individuals can have more adrenaline than normal in times of physical or psychological stress, but levels this high strongly suggested that the patient had an adrenaline-producing tumor known as a pheochromocytoma or pheo. She called the patient and arranged for her to follow up with an endocrinologist.


The subspecialist repeated the blood test, and when it came back just as high, the patient was sent for an M.R.I. of her abdomen and pelvis to look for a tumor. The young woman had a baseball-size mass growing out of her left adrenal gland, a one-to-two-inch pyramid-shaped gland on top of the kidney. These tumors are rare — on the order of three to eight per million. A patient with a pheochromocytoma will usually have high blood pressure, as well as episodes of headaches, sweating and a racing heart — all of which she had. Of course, these symptoms are far more common than the tumor, and most people with episodes like this do not have a pheochromocytoma. But some do.


She had surgery to remove the tumor, and over the next few months all of her symptoms melted away. She hasn’t had to take any medications at all since.


Head vs. Body


Until Bigi suggested that there might be a physiological cause for her racing heart and other strange feelings, the patient assumed that her symptoms were psychological. She had known lots of people who had anxiety and panic attacks, and what they described seemed to match what she was feeling. And her friends, even her brother and sister-in-law, physicians both, all thought it was stress or possibly bipolar disorder. Even Bigi didn’t really think the patient was going to have a physical cause for her anxiety and panic attacks. As we constantly remind ourselves and our patients, when you hear hoofbeats, the chances are good that it’s a horse. The most common diagnosis is usually the correct one. But we must also remember that sometimes the circus is in town.


Lisa Sanders, M.D. is a contributing writer for the magazine and the author of “Every Patient Tells a Story: Medical Mysteries and the Art of Diagnosis.”


1 comment:

  1. Wow - fascinating. What a good doctor. That's so cool - we would hope to find that sort of doctor if faced with a similar situation.

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