Diagnosis: A New Series From The New York Times and Netflix - The New York Times
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Mon Apr 16 13:20:23 UTC 2018
Congratulations to Dr. Lisa Sanders for this fascinating interactive way to help solve medical mysteries and bring the issues of diagnostic difficulties to the public.
Diagnosis: A New Series From The New York Times and Netflix
APRIL 11, 2018
This week The New York Times Magazine is reintroducing a version of “Think Like a Doctor,” the online column in which I told the story of a patient with mysterious symptoms — including posting some medical records and test results — and challenged readers to unravel the puzzle of that patient’s illness and come up with a diagnosis. But this time, the stakes are higher. In that original column, which I wrote from 2011 to 2016, I already knew the final diagnosis, and I watched as readers commented and discussed the case on the site, finding their way to an answer, a suggested diagnosis. This time around, I will be presenting an unsolved case and asking our readers to do their best to actually help the patient.
Again, I will provide test results and other relevant medical data and will challenge you to think like a doctor and come up with a solution to the patient’s illness. In posting these unsolved cases, we hope to leverage the knowledge and wisdom of this particular crowd — the readers of The New York Times — to make a difference in the life and well-being of someone in search of an answer, in search of a diagnosis.
Below you will find the case of a 23-year-old woman who has recurrent episodes of terrible pain in her muscles, along with urine the color of cola, often after exercising. Reader responses will be reviewed, and the most promising will be forwarded to the provider who is managing the patient’s care. Updates on the patient’s condition and diagnosis will be posted here as progress in the case is made, and each patient’s story, along with input from readers, will be shared in the Diagnosis show on Netflix. O.K., let’s get started.
Can You Help Angel Find a Diagnosis?
A good walk spoiled
The pain started just as the young nursing student headed down the rocky hiking trail last December. Her thighs and calves suddenly began to burn and throb as if her muscles were exhausted, as if she’d just run a marathon. And yet the 1.5-mile hike up to Mary Jane Falls in Las Vegas had been pretty easy. Angel and her best friend and their two dogs made it to the top in just under an hour. But when she started down the trail, her legs felt worn out and her knees were stiff, and each footfall sent a hot poker of pain from toe to hip. Simply bending her knee became increasingly difficult. After only a few steps, she knew she was in trouble. “I can’t go down,” she said to her companion, her best friend since high school. It was clear she was having another “episode.” That’s what Angel called the terrible bursts of muscle pain that had landed her in the hospital many times before. Give me your backpack, the friend told Angel. Can you lean on me?
The two young women hobbled a few feet down the hillside. The trail wasn’t steep, but with each step, the muscles of her thighs and hips trembled, as if ready to give up completely and drop her to the ground. She tried walking on her tiptoes — sometimes that helped. Not that day. And resting made no difference. The young woman wept from the pain sharpened by the frustration that she should be made so helpless. She pulled out her phone and called her boyfriend. He, too, had been through this before. He’d be there as soon as he could.
It took him almost hour to reach them. By then Angel’s legs were nearly useless. She could barely stand. He lifted her onto his shoulders and headed back down the trail. Although he walked carefully, every step sent daggers through her legs and up her back. The car seemed a million miles away.
Growing pains gone wild
Angel had suffered these episodes of muscle pain her whole life. When she was a child, everyone told her they were just growing pains. But one night when she was 14, the pain in her legs was so severe that it woke her. Sobbing, she called out to her parents. It wasn’t the first time she’d complained about her legs, but she’d never had such unbearable pain, and it had never occurred in the middle of the night. When it was clear the pain wasn’t going away, Angel and her mother ended up at Summerlin Hospital Medical Center on the outskirts of Las Vegas.
The week before Angel had been sick with what her pediatrician thought was an upper respiratory infection and sinusitis, and she was treated with antihistamines and an antibiotic. She was still taking those medications when she went to the emergency room. In the hospital, she didn’t have a fever, but her urine was noted to be very dark — the color of tea — which meant that her muscles weren’t just painful from the exertion but had somehow been damaged. When muscle is destroyed, the protein that makes the tissue red can turn urine brown as it is eliminated from the body. The more of this protein in the urine, the darker the brown discoloration.
Angel and her dog, Jules, in Huntington Beach, California, this year.
The E.R. doctors looked for evidence of muscle damage by measuring the blood levels of another tissue component, an enzyme called creatine kinase (CK). Because there is always some breaking down and rebuilding of muscle, there is always some CK in the blood stream as it makes its way to the kidney for elimination. Normal levels are usually between 96 and 140 units per liter. That afternoon, Angel’s CK was over 24,000.
The medical term for this kind of muscle breakdown is rhabdomyolysis, or rhabdo (from the Greek meaning the destruction of muscles). Rhabdo is generally not much of a mystery. It’s typically seen after some type of muscle trauma, such as a car accident or fall, or after a medical procedure like surgery. In these cases, the cause of the muscle injury is obvious. Less obvious but more common causes of rhabdo include certain drugs, both prescription and recreational, and alcohol. Extreme exercise can cause rhabdo, although it is usually mild. Certain infections can cause it as well.
Angel was admitted to Summerlin for intravenous fluids to help flush the muscle-breakdown products out of her system. And so that her doctors could try to figure out why she had rhabdomyolysis in the first place. None of the most common causes seemed to fit. She was tested for an infection with the bacterium streptococcus (the cause of strep throat), which can cause rhabdo, but the tests were negative. When the rest of the routine testing was normal, her doctors concluded that she probably had some kind of viral infection that injured her muscles and caused the rhabdomyolysis. After a few of days, when her CK levels had lowered to a safer range and the pain resolved, she was discharged and advised to continue to drink plenty of fluids. Angel says she was told that it was very unlikely that this would happen again.
And yet two months later, Angel had a second episode of severe muscle pain. Again, it happened in the middle of the night. Again, her CK was elevated, this time to over 60,000. And once again, it resolved with days of intravenous fluids. This time, however, it wasn’t clear what had caused her rhabdo.
Although the “growing pains” persisted, she didn’t have to go to the hospital for the next three years. But in March 2012, when Angel was 17 and a senior in high school, she developed a fever and a sore throat. Although a strep test was negative, her pediatrician started her on antibiotics. The next day her muscles started to ache. The day after that her urine turned dark brown — the color of cola. And when the pain persisted for another day, her parents took her back, once more, to Summerlin Hospital.
She was treated for her rhabdo, and this time a nephrologist (a kidney specialist) was consulted to make sure her kidneys would not be injured by the muscle-breakdown product. Repeated tests for strep were negative. She was also tested for lupus (more formally called systemic lupus erythematous) and for thyroid disease — each can cause rhabdo. The tests were negative. Infections other than strep can cause rhabdo, but they are less common. And really, nothing explained why this young woman would have three episodes of rhabdo in three years.
Angel was supposed to follow up as an outpatient, but she ended up in the hospital again before that happened. This time she was seen by a neurologist, and because some of the tests suggested that her liver might be involved, a gastroenterologist. An M.R.I. of her brain was normal, and extensive testing for autoimmune liver diseases were negative. An ultrasound of her abdomen showed a gallstone but nothing that might explain her repeated bouts of muscle destruction and rhabdo.
The records from that visit are viewable here.
Angel continued to have episodes of severe muscle pain sometimes accompanied by dark urine for the next several years. They became more frequent. She had some pain almost every day, depending on her level of exertion. When her muscles began to hurt, she’d just take it easy, and the pain would fade away. But every three to four months, the pain would go wild. Sometimes it started after she exercised, but not always. It usually started in her legs, then spread upward to her back, her shoulders, her arms. She described it as the kind of ache you might get after working out too hard, only much worse. It would get to be overwhelming, as it had that afternoon at Mary Jane Falls, and her urine would again turn the color of cola, and she knew she had to go to the hospital.
Extra Time in the Hospital
At the bottom of the hill, Angel’s boyfriend helped his sweetheart of the past three years into her friend’s car and drove to Summerlin Hospital. In the E.R., the faces of many of the doctors and nurses were familiar to the young woman after so many visits over the past eight years. She certainly knew the routine by now. Blood would be taken, intravenous fluids would be started and pain medicines would be provided. When the first blood tests came back, Angel said that the E.R. doctor told her that it looked like a mild attack; her CK was 18,000. They’d give her some fluids to help flush the muscle-breakdown products through her kidneys, and maybe she’d be able to go home later that night. But after a few hours of intravenous fluids, instead of the level going down, Angel’s level rose to more than 33,000. She’d have to be admitted so they could keep protecting her kidneys, she was told. By then it was late. She said goodbye to her boyfriend and was finally taken to a room where she could try to get some sleep.
Some of the records from that admission are available, here.
She was discharged after five days. By then her CK had dropped to near 1,000, and her urine was clear. She had kept up with her schoolwork — thanks to the help of some friends. But she knew that unless something changed, there was a very good chance she’d be back in the hospital in a few months with the same problem.
Again and Again
Over the past several years, Angel has been admitted to Summerlin hospital well over 20 times. Most of the time, the doctors providing her care have focused on protecting her kidneys and managing her rhabdo, although several specialists did try to identify a cause for the repeated episodes. A muscle biopsy, performed to see if the cause of the rhabdo is contained within the muscle fibers, was done between hospitalizations; it was normal. A second one done several years later was negative as well. Additional efforts to identify the cause have been frustrated by the frequent hospitalizations. And while she’s been in the hospital, the doctors’ focus has had to be on managing the manifestations of the disease that took her there. Complex or unusual disorders, like this, are best investigated outside the hospital. Angel and her primary care provider, Heather Harris, however, have had trouble finding a specialist to guide them in this complicated work up.
Moreover Angel confesses that for the past few years she’s been far too busy between full-time nursing school and part-time waiting tables to spend any more time thinking about her muscle problem than she absolutely has to. It takes time she just doesn’t have to make the appointments, see the doctors and follow up on the tests. But now, she’s worried about her kidneys. And she’s worried because she feels as if she’s getting weaker from all the muscle she’s lost. A recent visit to a neurologist at U.C.L.A. gave her some hope, but Angel is awaiting results.
What do you think is going on here? Do you recognize this condition? Where should this patient and Harris, her P.C.P., look next? Enter your comments below, and I’ll let you know what happens in the case as it develops. Please briefly describe your thinking. How a diagnosis is made is often as revealing as the diagnosis itself. And let’s see if we can figure this one out.
What’s Your Diagnosis?
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Moderator: David Meyers, Board Member, Society to Improve Diagnosis in Medicine
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