The couple couldn’t quite remember when the 61-year-old man started to get sick. Was it before he retired the previous spring? No — it was later, the man insisted. But both men agreed that they knew something was seriously wrong the day the recent retiree fell going up the stairs. He was carrying his new laptop when his right leg suddenly buckled. If he hadn’t had the computer, he might have been able to catch himself. Instead, holding his new machine aloft, he fell forward and slid down a couple of steps. He scraped his shins and forearms; blood seeped from the shallow wounds. And he was too weak to get up. “I need help,” he called to his partner upstairs. The man, already on his feet after hearing the thump, appeared almost instantly at his side.
He hefted his partner to his feet and half-carried him into the upstairs bathroom. “You really need to call your doctor,” he murmured as he dabbed the scrapes. He had been urging him to do this for weeks, ever since he noticed how easily his partner bruised, how strangely thin his skin looked. And there were other changes. He was quieter. His easy laugh had all but disappeared. Most worrisome, he seemed confused and forgetful; sometimes he didn’t make sense. They had been together for more than 40 years; the man knew his partner well. These changes scared him.
By the time the man agreed to see the doctor, he could barely move the leg that gave way on the stairs. His walk was an awkward shuffle, and he had to hold on to his partner as they made their way from the car to the medical center in Durham, Conn. The doctor on duty that day basically took one look at the bruised and limping man and sent him to Yale New Haven Hospital. At the very least the patient was going to need a scan. He would probably need more.
In the emergency room, a physical exam revealed that the muscles in his right thigh weren’t working at all. And the skin there was numb. His blood chemistries were out of whack — his potassium dangerously low. An M.R.I. of his entire spine provided no answers. He lived in a wooded area, not far from Lyme. Had he noticed a tick bite? Or a rash? No bites, but a friend had pointed out a rash earlier that summer. It was in a spot he couldn’t see, though, and he just forgot about it. A blood test and then a spinal tap confirmed the diagnosis: He had Lyme disease. Both men felt a shudder of relief. He would need a full month of antibiotics, but once he was treated, he should get better.
But he didn’t. A month later he was still weak, still bruising and bleeding. He was tired; his thinking remained foggy. And his blood pressure was out of control. He had a history of hypertension, but it had always been well controlled on a single medication. Suddenly, it wasn’t. His primary-care doctor put him on a second drug, then a third, but his blood pressure remained higher than it had ever been. His doctor sent him to a cardiologist, who put the patient on even stronger blood-pressure medications. He also ordered an ultrasound of the man’s heart to make sure it was beating normally. It was, but the aorta looked strange. A CT scan reassured him that the man’s aorta was normal but did reveal an unexpected finding: On top of his left adrenal gland was a golf-ball-size mass.
Accidental findings on CT scans are so common they have a name — incidentalomas. Up to 7 percent of imaging studies of the abdomen will reveal an incidentaloma on one of the adrenal glands. Most of these masses are benign and don’t make any of the hormones normally produced by the adrenal gland. Still, all need to be evaluated. The cardiologist called the patient with the news and referred him to an endocrinologist at Yale.
Between the difficulty of scheduling an appointment with a subspecialist and an unexpected snowstorm, it was months before the patient was able to see the endocrinologist. But finally, on a chilly, overcast day in April, he and his partner found themselves in an exam room at Yale New Haven Hospital. The brisk, smiling endocrinologist strode in and introduced herself. The two men described their strange journey over the previous nine months. It started, they explained, that summer with what turned out to be Lyme disease. He was treated but never got better. Indeed, he felt even worse now. He was weak — he stopped going to the gym because he could no longer do the workout. The muscles on his arms and legs seemed to evaporate. He put on weight, but none of it was muscle. He had never had a belly like this. And he was exhausted even though he slept 10 to 12 hours a night.
The endocrinologist had already reviewed the man’s CT scan, as well as the M.R.I. done the summer before, and so she knew what she was looking for. This had nothing to do with his recent Lyme infection. The adrenal glands are responsible for providing several hormones, including the fight-or-flight hormones like adrenaline; cortisol, the hormone that regulates metabolism; and the fluid-balance hormone aldosterone. Excesses of any one of these could be responsible for his high blood pressure. His easy bruising and fragile skin suggested an excess of cortisol. His low potassium and elevated sodium could be caused by an excess of aldosterone. His rapid heart rate could be a sign of excess stress hormones. As the doctor examined him, she looked for clues to help her determine which hormone was being overproduced. His body was covered with bruises. His arms and legs were thin and the muscles wasted. His belly, in contrast, was soft and obese. He had pads of fat at the top of each shoulder and his face was puffy, red and round. This unusual collection of symptoms was classic for Cushing’s syndrome — caused by an excess of the metabolic hormone cortisol.
A Puzzling Contradiction
One aspect of his illness, however, was puzzling. These adrenal tumors usually grow slowly, taking years to create this much physical discord. But this man described symptoms that appeared suddenly and worsened quickly. And the tumor itself seemed to be growing fast. Although it wasn’t noticed at the time, a smaller version of the tumor was visible on the M.R.I. done the summer before. A cancer could grow this rapidly. Was this adrenal carcinoma? These aggressive cancers are rare — with only one or two cases found per million people each year — but they can be deadly.
The endocrinologist ordered a CT scan to be done that day. If this was a cancer, it should have grown in the months since his last scan. But even if it wasn’t cancer, it clearly needed to come out, and soon. She referred him to a surgeon. He had been sick with this growth long enough.
The labs confirmed what the endocrinologist suspected. The man’s level of cortisol was sky high — 25 times the normal amount. The CT scan showed no growth in the tumor size. That was a relief. Adrenal cancers often spread beyond the gland itself, and once that happens the chance of living more than five years plummets.
He had his surgery a month later. The response was immediate. The next day his blood pressure and heart rate were back to normal. His blood chemistries, including his cortisol level, were in the normal range. The overactive tumor had taken over the production of cortisol; his remaining adrenal gland was now on vacation, and it would take time for it to recover. In the meantime, he would need to take hydrocortisone.
The mass was examined in the lab. The endocrinologist was surprised to find that it was adrenal carcinoma after all. Both doctor and patient were relieved when a PET scan showed no signs of spread.
The rest of his recovery was slow. The bruises faded. His muscles reappeared and his endurance returned. By the end of the year he was able to start running again. He went for scans every few months, and after four and a half years he got what was supposed to be his final scan. But that scan showed a new lesion, on his spine. It was treated with radiation. The next year, just this fall, he had a hint of another lesion. A new metastasis. He and his doctors are discussing next steps.
I spoke with the patient recently. He has a good life, he told me. He feels great. When asked about the new lesion, he was thoughtful but optimistic. He’ll take care of these problems as they come up, he said. In the meantime, he will continue to enjoy the life he and his partner have together. He asked: What else can any of us do?
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, write her at Lisa.Sandersmdnyt@gmail.com.
Source : Nytimes