The couple couldn’t really remember when the 61-year-old started getting sick. Was it before his retirement, the previous spring? No, it was later, the man insisted. But both men agreed they knew something was seriously wrong the day the recent retiree fell while walking 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 up. Instead, holding his new machine aloft, he fell forward and rolled down some steps. I scratched his shins and forearms; Blood flowed from superficial wounds. And he was too weak to get up. “I need help,” he called to his partner upstairs. The man, already standing after hearing the thud, appeared almost instantly at his side.
He picked his partner up and half-carried him to the upstairs bathroom. “You really need to call your doctor,” he whispered, dabbing at the scrapes. He’d been urging him to do this for weeks, ever since he’d noticed how easily his partner bruised and how strangely thin his skin looked. And there have been other changes. He was quieter. His easy laugh had all but disappeared. Even more worrying, he seemed confused and forgetful; sometimes it made no sense. They had been together for over 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 he had given way on the stairs. His walk was a difficult course and he had to hold on to his partner as they walked from the car to the medical center in Durham, Connecticut. The doctor on call that day basically took one look at the bruised housekeeper and sent him to Yale New Haven Hospital. At a minimum, the patient would need a CT scan. He probably needed more.
In the emergency room, a physical exam revealed that the muscles in his right thigh were not working at all. And there, the skin was numb. His blood chemistry was out of balance – his potassium levels were dangerously low. An MRI of his entire spine provided no answers. I lived in a wooded area, not far from Lyme. Have I noticed a tick bite? Do you hear a rash? No bites, but a friend had reported a rash to him earlier that summer. But it was in a place he couldn’t see and he simply forgot about it. A blood test then a lumbar puncture confirmed the diagnosis: he had Lyme disease. Both men felt a shiver of relief. He would need a full month of antibiotics, but once treated he should be better.
But he did not do it. A month later, he was still weak, still bruised and bleeding. He was tired; his thoughts remained foggy. And his blood pressure was out of control. He had a history of hypertension, but it had always been well controlled with a single medication. Suddenly, that wasn’t the case anymore. Her primary care doctor prescribed a second medication, then a third, but her blood pressure remained higher than it had ever been. His doctor sent him to a cardiologist, who prescribed the patient even stronger blood pressure medications. He also ordered an ultrasound of the man’s heart to make sure it was beating normally. It was true, but the aorta looked strange. A scan reassured him that the man’s aorta was normal, but revealed an unexpected finding: Above his left adrenal gland was a mass the size of a golf ball.
Incidental findings on CT scans are so common that 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 do not produce any of the hormones normally produced by the adrenal gland. However, all must be evaluated. The cardiologist called the patient with the news and referred him to an endocrinologist at Yale.
Between the difficulty of making an appointment with a subspecialist and an unexpected snowstorm, it took months before the patient could see the endocrinologist. But finally, on a cold, cloudy day in April, he and his partner found themselves in an examining room at Yale New Haven Hospital. The lively and smiling endocrinologist came in and introduced herself. The two men described their strange journey over the previous nine months. It began, they explained, that summer with what turned out to be Lyme disease. He was treated but his condition never improved. In fact, he felt even worse now. He was weak – he stopped going to the gym because he couldn’t work out anymore. The muscles in his arms and legs seemed to evaporate. He gained weight, but none of it was muscle. He had never had a stomach like this. And he was exhausted even though he slept 10 to 12 hours a night.
The endocrinologist had already looked at the man’s CT scan, as well as the MRI taken the summer before, so she knew what she was looking for. It had nothing to do with his recent Lyme infection. The adrenal glands are responsible for providing several hormones, including fight-or-flight hormones like adrenaline; cortisol, the hormone that regulates metabolism; and aldosterone, a hormone that balances fluids. Excesses of any of these could be responsible for your high blood pressure. Her frequent bruising and fragile skin suggested excess cortisol. His low potassium and high sodium levels could be caused by excess aldosterone. His rapid heart rate could be a sign of excess stress hormones. As the doctor examined her, she looked for clues to help her determine which hormone was overproduced. His body was covered in bruises. His arms and legs were thin and his muscles were exhausted. His stomach, on the other hand, was soft and obese. He had pads of fat at the top of each shoulder and his face was swollen, red and round. This unusual set of symptoms was classic for Cushing’s syndrome – caused by excess cortisol, a metabolic hormone.
A confusing contradiction
One aspect of his illness, however, is puzzling. These adrenal tumors usually grow slowly, and it takes years to create this much physical discord. But this man described symptoms that appeared suddenly and quickly worsened. And the tumor itself seemed to be growing rapidly. Although it wasn’t noticed at the time, a smaller version of the tumor was visible on the MRI taken the previous summer. Cancer could develop that quickly. Was it adrenal carcinoma? These aggressive cancers are rare – with only one or two cases detected per million people each year – but they can be fatal.
The endocrinologist ordered a CT scan to be performed that day. If it was cancer, it should have spread in the months following her last scan. But even if it wasn’t cancer, it clearly had to be overcome, and quickly. She referred him to a surgeon. He had suffered from this tumor for quite a long time.
The laboratories confirmed what the endocrinologist suspected. The man’s cortisol level was extremely high – 25 times the normal amount. The CT scan showed no growth in the size of the tumor. It was a relief. Adrenal cancers often spread beyond the gland itself, and once that happens, the chances of living more than five years plummet.
He had surgery a month later. The response was immediate. The next day, his blood pressure and heart rate were back to normal. His blood chemistry parameters, including cortisol levels, were normal. The overactive tumor had taken over cortisol production; his remaining adrenal gland was now on vacation and it would take time to recover. In the meantime, he would need to take hydrocortisone.
The mass was examined in the laboratory. The endocrinologist was surprised to find that it ended up being adrenal carcinoma. Both doctor and patient were relieved when a PET scan showed no signs of spread.
The rest of his recovery was slow. The bruises have faded. His muscles reappeared and his stamina returned. By the end of the year, he could start running again. He took exams every few months, and after four and a half years he passed what was supposed to be his last exam. But this scan showed a new lesion on his spine. He was treated with radiation. The following year, just that fall, he had a hint of another injury. A new metastasis. He and his doctors discuss next steps.
I spoke with the patient recently. He has a good life, he told me. He feels good. Asked about the new injury, he was thoughtful but optimistic. He will address these issues as they arise, he said. In the meantime, he will continue to enjoy the life that he and his partner lead together. He asked: What else can we do?
Lisa Sanders, MD, is a contributing editor to the magazine. His latest book is “Diagnosis: Solving the Most Confusing Medical Mysteries.” If you have a solved case to share, email Lisa.Sandersmdnyt@gmail.com.