A fall that led to a doctors' visit

A man's partner noticed he bruised easily, his skin looked thin, he was quieter than he used to be, and he seemed confused and forgetful.

One day, as he was walking up the stairs carrying his laptop, the man's right leg suddenly buckled and he fell. Blood started coming out from shallow wounds and the man was too weak to get up, ultimately needing help from his partner.

Eventually, the man went to see his doctor, and by that time, he could barely move his right leg. The doctor took a quick look at the patient and sent him to Yale New Haven Hospital's ED, where a physical exam revealed the muscles in the man's right thigh weren't working and the skin was numb. His potassium levels were also dangerously low.

A blood test and a spinal tap confirmed the man had Lyme's disease and he was prescribed a full month of antibiotics that should help him get better.

A mass is discovered

A month after his hospital visit, the man wasn't improving. He was still weak, still bruising, and still bleeding. He was also tired, and his thinking was still foggy. His blood pressure had also increased significantly. While the man had a history of hypertension, he had been able to control it with one medication, but now that medication wasn't working.

The man's doctor prescribed a second and third drug, but the patient's blood pressure remained higher than ever before. Eventually, the man was sent to a cardiologist who put him on even stronger blood pressure medication and ordered an ultrasound of the man's heart.

The ultrasound discovered the man's heart was beating normally, but his aorta looked strange. A CT scan ultimately discovered his aorta was normal, but there was a golf-ball-sized mass on his left adrenal gland, and the patient was referred to an endocrinologist.

Months later, the man met with the endocrinologist who believed the man's symptoms had nothing to do with his Lyme disease infection. Instead, she believed something was going wrong with the adrenal gland.

The adrenal glands provide several hormones like adrenaline, cortisol, and aldosterone, Sanders writes. Excesses of any of these hormones could have been causing the patient's high blood pressure, and easy bruising and fragile skin can be caused by an excess of cortisol. In addition, low potassium levels and elevated sodium could be caused by excess of aldosterone, and the patient's rapid heart rate could be caused by excess stress hormones.

However, adrenal tumors typically grow slowly, but the man described symptoms that appeared suddenly and got worse quickly. The endocrinologist ordered a CT scan and some lab work, the latter of which confirmed his cortisol levels were 25 times the normal amount. The CT scan thankfully showed his tumor had not grown.

A month later, the man had surgery and the response was immediate. His blood pressure and heart rate were normal the next day as were his blood chemistries. The tumor on his adrenal gland had taken over cortisol production, but now that it was gone, he would need to take hydrocortisone while he recovered. The endocrinologist also found the tumor was an adrenal carcinoma, and PET scans found no signs of spread.

Sanders writes that the man's recovery was slow, but his bruises began to fade, his muscles reappeared, and his endurance returned. By the end of the year, he was able to run again.

Every few months the man went in for scans and after four and a half years on what was supposed to be his final scan, doctors found a new lesion on his spine that they treated with radiation. Then, this past fall, a new lesion was discovered, and the man is discussing next steps with his doctor.

"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," Sanders writes. "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?" (Sanders, New York Times Magazine, 12/6)

Although clinical use of artificial intelligence (AI) is still limited, the technology may be beneficial in diagnosing rare diseases, which are often misunderstood or overlooked by regular doctors, Bina Venkataraman writes for the Washington Post.