Was there a clue in the dark color of his urine?
The 22-year-old man struggled to get out of bed. The E.M.T.s were just outside his door, if he could only get there. The previous day he felt that he was coming down with something. Normally he never took naps, but that afternoon, he returned from class feeling completely wiped out and slept long and hard. Yet when he awoke, he felt even worse. Every muscle was sore. He felt feverish. This must be the flu, he told himself. He had the flu shot before starting school that year, but of course no vaccine is 100 percent effective.
He spent the rest of that afternoon in bed, too tired and in too much pain to even get up to join his partner for dinner. When he awoke in the middle of the night to go to the bathroom, he was so weak and sore he could hardly sit up. He maneuvered to the edge of the bed and, using the headboard, pulled himself to his feet, but his partner had to help him get to the bathroom. Once he was there, the urine he produced was startlingly dark — the color of Coca-Cola.
The next day he felt no better. His partner wanted to stay home with him, but he hurried her off to work. It’s just the flu, he assured her. But as the morning wore on, he started to worry. He called his parents, who were both nurses. They were worried too; influenza can be bad. When he got the same message from a doctor back home in New York, he started wondering if he should go to the hospital. He’d never been this sick before.
It was late morning when fear overcame embarrassment and the young man called 911. And now that the E.M.T.s were here, he was worried that he couldn’t get to them. Just standing had every fiber in his legs on fire. He supported himself by leaning on furniture and slowly made his way to the front door. He was grateful that they had pulled the stretcher to the bottom of the steps leading to his porch.
An Off-the-Charts Test Result
He wasn’t in the emergency department of C.H.A. Cambridge Hospital in Massachusetts for long before the decision to admit him was made. The test for the flu was negative, but the blood tests done were dangerously abnormal. His kidneys were failing, and it looked as if his liver was damaged, too. His white-blood-cell count was twice the normal level, suggesting a severe infection.
The patient told the doctor that he had been working out a few days before he got sick, so the doctor sent a blood sample to look for the presence of creatine kinase (C.K.), an enzyme that goes up when muscle tissue is injured. Extreme bouts of exercise can cause this kind of injury, and when C.K. and other muscle components leak into the bloodstream, they can cause all kinds of damage — a condition called rhabdomyolysis. A normal level of creatine kinase is in the 100 to 200 range. This patient’s C.K. was over 40,000. Just how much over was unknown because that was as high as this initial test could measure.
Dr. Frances Ue was the third-year resident assigned to care for the young man. He hadn’t been working out that hard, he told her, after she explained the possible link between his exercise and his current pain. He went to the gym three times a week to help him manage the stress of grad school. He had added a couple of new exercises to his regimen, but nothing extreme. The doctor asked if he was using any drugs or supplements to help him build muscle. Absolutely not. Was he using any drugs like cocaine or Adderall, either recreationally or as study aids? These can increase the risk of developing rhabdomyolysis. Again, his answer was no.
She asked if anything like this had ever happened to him before. Never. Later he recalled an episode of really dark urine when he was sick as a child. But he never had this kind of muscle pain before.
The doctors in the emergency room thought exercise-induced rhabdomyolysis was the most likely cause of his symptoms and lab abnormalities, but not the only possibility. They had already sent off tests to look for infections known to affect the liver and kidneys: hepatitis A, B and C, Epstein-Barr virus, cytomegalovirus. They also ordered a blood test to look for Wilson’s disease, an inherited inability to eliminate copper from the body, which can cause sudden liver failure in young adults. What else? Ue wasn’t sure.
Flushing Out the Kidneys
Whatever the cause, she told the anxious young man, his muscles would recover. But his kidneys were in danger. His urine was dark because the oxygen-carrying parts of the muscle known as myoglobin were collecting in the kidneys. Myoglobin is a dark red color; it’s why muscle is red. The most important thing the medical team was doing for him right then was giving him fluids to help his kidneys flush out myoglobin and other components released by the damaged muscle.
Ue ordered additional tests to track the patient’s creatine kinase. On admission, his total C.K., initially reported at over 40,000, had actually been 189,000. It peaked the next day at nearly twice that: 364,000. Ue kept the IV fluids going and looked for a reason for the worst case of rhabdo she had ever seen. It wasn’t hepatitis or any of the common viruses they tested for. It wasn’t Wilson’s disease. It wasn’t any of the drugs she checked for.
A Fuel Problem?
What else? In search of an answer, she turned to the medical literature and found a paper describing two young people who, like her patient, developed severe rhabdo after a moderate workout. The writers listed factors that could predispose a patient to having this kind of muscle injury, and Ue found what she was looking for. There are people born with abnormalities in how their bodies use the fuel provided by the foods they eat. Because of this abnormality, when stressed or working hard these people could quite literally run out of fuel. Could he have one of these rare inherited diseases? To answer that question, after the patient recovered enough to leave the hospital, Ue referred him to a neurologist who specializes in neuromuscular diseases.
It was months later when the patient had enough of a break in his schedule to make an appointment to see Dr. Courtney McIlduff, a neurologist at Beth Israel Deaconess Medical Center in Boston. Since his week in the hospital, the man reported, he had two more episodes — though neither as severe as the first. Both happened after he took an easy walk. Hearing that, McIlduff, like Ue, began considering an inherited problem in turning food into fuel. These so-called metabolic myopathies sometimes didn’t reveal themselves until adolescence or even adulthood.
McIlduff examined the man carefully, looking for muscle weakness. Many forms of muscle disease can permanently alter how muscles look or work, but most metabolic myopathies don’t. The patient’s muscle exam was completely normal. She sent him to get genetic testing, to look for one of the several inborn errors of metabolism.
And indeed, he had one: He was born without the ability to make an enzyme called carnitine palmitoyltransferase type 2. Patients with CPT2 deficiency are missing the necessary biological equipment to turn some dietary fats into energy. Normally the body runs on a type of sugar made from carbohydrates and stored in the liver. When that sugar is used up, the body switches to fat for fuel. Patients with CPT2 deficiency can’t do that, or at least not well. Without the proper fuel, the muscle cells are injured and release their contents, causing the pain and dark urine. Neither of the man’s parents have this disorder, but they both have one copy of the erroneous gene for this enzyme. It takes two copies to get the disease, and so their son got one copy from each of them.
There is no cure for CPT2 deficiency. It’s managed with diet and lifestyle changes, as well as a supplement that provides fats that these bodies can break down. It has been a year and a half since this young man’s condition was diagnosed. To learn how to live with it, he has turned to others who have it, too. An online community called What Can You Do Despite CPT Type 2 has provided real-time tips and tales from those who, like him, live with this genetic abnormality. He has figured out how to eat, how to rest and how to exercise with this disorder. He is, he says, determined to learn how to take care of the only body he’ll ever have.
Lisa Sanders, M.D., is a contributing writer for the magazine. Her latest book is “Diagnosis: Solving the Most Baffling Medical Mysteries.” If you have a solved case to share with Dr. Sanders, write her at Lisa.Sandersmd@gmail.com.
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