One of my junior surgical partners, Scott, called me from the clinic downstairs. “Hey, would you mind coming down?” he asked. “I haven’t seen anything like this before.” I had never heard Scott so anxious, and told him I would be right there.
He met me at the exam room door, wide-eyed, holding the patient’s chart in one hand and nervously slapping it into his other palm. “This is wild,” he murmured. “A 40-year-old man with bony masses in several areas of his body—hips, face, everywhere. He has one in his chest that we might need to deal with, and soon. This guy is literally suffocating.”
We walked over to a computer to take a look at the CT scan.
“Wow, you weren’t kidding,” I said.
The scan showed a complex bony tumor originating at the ribs and completely filling the left chest. The patient’s heart, which would normally rest next to the left lung, was pushed completely against the right lung, compressing it to about half its normal size. And something vital was missing from the scan.
“Where’s the left lung?” I asked.
“I don’t see it,” Scott said.
“Have you had a chance to review his medical history?”
“Not yet,” he replied. “I called you as soon as I saw the films.”
We opened up the electronic medical record. The patient’s name was Hector, and his life had been full of suffering. Since childhood he’d had multiple operations related to these tumors, including removal of his left eye, as well as other craniofacial, hip, and lower-extremity procedures.
Doctors had given him a diagnosis of fibrous dysplasia. This random, or non-inherited, genetic disease involves a mutation in a gene that codes for a protein called Gs, which regulates bone growth. When mutated, the gene causes Gs to go into overdrive, leading to abnormal growth and function of the cells that create bone.
Scott suggested that he and I see the patient together.
We walked down the hall to the clinic exam room and found Hector accompanied by eight women: sisters, cousins, and aunts. My guess was that the average height of the women was at best somewhere around four foot ten, and Hector was about six foot seven. His head was one and a half times normal size, and severely misshapen. He wore a baseball cap that was about four sizes too small. He had a prosthetic left eye and stood with a stoop, his unusually large hands grasping the handlebar of a walker. He was wearing a nasal cannula—plastic tubing running from an oxygen tank to his nose—and gasped for several seconds each time he spoke.
Polyostotic (literally, “many bones”) fibrous dysplasia with endocrine abnormalities is known as McCune-Albright syndrome. While the isolated form of fibrous dysplasia, affecting just one bone or area, occurs in about 20,000 patients in the United States, McCune-Albright affects only 1,000 or so. Hector met the criteria for the syndrome, with diffuse bony masses and acromegaly, an endocrine disorder related to the overproduction of growth hormone, leading to increased height and enlargement of the hands and facial bones.
After introductions, I asked him why he had come to see us now.
“I wanted to know if you could help me,” he replied. “I’ve been fighting this since I was a little boy—first the operations, and then folks making fun of me.” He stopped, tears welling up in his eyes. “I can’t get around, doc, and my breathing is really bad.” He wiped the tears from his eyes with the back of one of his giant hands. “I want to do normal things, like coach baseball.”
“This is going to get worse,” I said.
“What are my options, doc?”
“Removing the mass in your chest is the only chance of getting better,” I responded, “but first we need to test your lungs.”