Vital Signs: A Leg of Legendary Size

A patient’s leg swells to three times its normal size, and an alarmed doctor tries test after test to 
pin down the cause. But what if there is no answer?

By Anna Reisman|Wednesday, May 30, 2012

The patient was a petite 80-year-old white-haired woman in pressed Bermuda shorts. “It’s nice to meet you, Mrs. 
Schulman,” I said to her, trying my best not to gape. The medical resident, Charles, had warned me that her leg was seriously swollen, but I still almost did a double take when I saw it.

If her left leg was a slender maple, her right was a giant redwood. It measured about three times the circumference of the left and was swollen all the way from her ankle to the very top of her thigh. It was by far the biggest swelling I’d seen in my career.

“How long has it been swollen like this?” I asked Mrs. Schulman.

“More than a month,” she said. “And don’t tell me to elevate it; I have it up all the time. I can’t bend it, I can’t garden. It’s terrible!”

Charles filled me in on her medical history. She was on a blood thinner for an irregular heartbeat and a pill for high blood pressure. A few months earlier, she had tripped on a sidewalk and landed on her right knee. It still ached from time to time.

“Don’t forget my cancer,” Mrs. Schulman piped in. “I had lung cancer five years ago, and I beat it!”

Alarmed, I willed my eyebrows not to rise. It was painfully obvious that she might be wrong. Since cancer increases the risk of blood clots, a single swollen leg in a patient with a history of cancer was a blood clot until proved otherwise. I could see from Charles’s widened eyes that he hadn’t known about her cancer history until that moment.

It was possible we were wrong, of course. Swelling in one leg can also result from muscle injury, veins that no longer function properly, cysts behind the knee, infections, or a variety of knee abnormalities. But since a history of cancer and trauma are both risk factors for blood clots, we decided to start there.

Haltingly, Charles explained to our patient that she would need an ultrasound, which can often pick up a clot, and that it was important to get it immediately.

“If this is a DVT—deep vein thrombosis—a blood clot in one of your leg veins,” he told her, “it could become dislodged and land in one of your lung vessels and cause a pulmonary embolus, a blockage of arteries in the lung. It could be life threatening.” It’s estimated that between 300,000 and 600,000 people in the United States have DVTs and pulmonary emboli each year, and 60,000 to 100,000 die from these conditions.

But Mrs. Schulman was a step ahead. She had already seen a doctor two weeks earlier who was clearly thinking along the same lines we were: He had sent her for an ultrasound, which turned out normal. He had also ordered a CT scan of her abdomen to evaluate her pelvic veins, where the ultrasound couldn’t reach. But that was normal too. With no sign of a blood clot in either test, there was less reason to worry about a recurrence of cancer, but we still had to figure out the problem with her leg.

I suggested that we repeat the ultrasound, because sometimes blood clots don’t show up immediately. An hour later, we had the result: again, no clot.

This wasn’t turning out to be a cut-and-dried case after all. A hugely swollen leg in an elderly woman with a history of cancer had seemed so likely to be a blood clot, but two ultrasounds and a CT scan later, we had found nothing.

Mrs. Schulman was convinced that her knee was the problem. After her fall, she told us, her knee had been swollen for a week or so. It improved, although it still ached if she walked a lot. The massive leg swelling started more than a month later. But when I called the doctor who had seen her, he thought it unlikely that a fall could have caused this extreme degree of swelling.

Mrs. Schulman asked if an antibiotic might help. I explained to her that there was no sign of infection. Her white blood cell count, which would increase in an infection, was completely normal, and the leg did not have the increased warmth or redness that might suggest an infection of the skin or soft tissues. Instead, I suggested trying a diuretic, a medicine that helps reduce the amount of water in the body, for a week. In some cases swollen legs are simply due to water retention from poorly functioning veins. I didn’t think there was much chance that was the case here, since both legs would most likely be swollen. Still, a diuretic probably wouldn’t hurt.

We sent her home, but not without some trepidation. We warned her about symptoms of a blood clot in the leg, such as redness, warmth, or tenderness, or—in a worst-case scenario—the chest pain, rapid heart beat, or shortness of breath that would result from a pulmonary embolus. Later that afternoon, still worried, I spoke with a radiologist who recommended an MRI of her leg and pelvis. Perhaps there was something obstructing the veins that hadn’t been visible on either the ultrasound or the CT scan. Anything that blocks or diminishes blood flow—a blood clot within the vein, a mass pressing on the outside of the vein, damage to the vein itself—can build up pressure that is transmitted to the capillaries, causing swelling.

I called Mrs. Schulman and apologized that I was recommending yet another test, the MRI. I explained that there was a good chance that this one would give us an answer. She was eager to do whatever it took. A week later, we had the results: no blockages visible in the blood vessels and no compression of the veins.

Desperate to find the problem, caught up in a cascade of testing, frustrated that after more than a month her leg remained worryingly swollen, I persuaded myself to keep looking for a hidden blood clot. So I ordered a venogram, in which a 
contrast dye is injected into a vein and a series of X-rays depicts the flow of the dye—or, if there’s an obstruction, a lack of flow. Although it is the gold standard for diagnosing deep vein thrombosis, a venogram comes with the risk of serious allergic reaction to the dye. I also consulted an oncologist, who sent Mrs. Schulman for another CT scan as well as a positron emission tomography (PET) scan, which uses small amounts of radioactive substances to generate three-dimensional images of metabolic processes within tissue and organs. Three tests and one consultant later, we had found no blood clot and no cancer but were no closer to an answer for her swollen leg.

Mrs. Schulman made the best of life with a huge, stiff leg. She lifted it carefully when climbing stairs, and she didn’t plant a garden that spring. In the summer, she visited her family out of town for a few weeks. Still very worried about a blood clot, I left a series of messages for her, asking her to call when she returned. When I didn’t hear back, I wondered if a clot had barreled through her veins to her lungs, and if she had ended up hospitalized or dead. Or maybe she had gone to another doctor who had solved the mystery, and she had decided never to see me (or Charles) again.

About a month later, she finally picked up the phone. “It’s better,” she said, cheerful as ever.

My heart lifted. “You mean, the swelling is down a little?”

“No, it’s back to normal. Same size as the other one.”

My mouth dropped open. Mrs. Schulman told me she’d taken an antibiotic prescribed by her other doctor for the knee pain, and within a week, the swelling had melted away.

I called her doctor, eager to hear the story. He’d thrown up his hands, he told me. So many tests, no answers, and a patient who had wanted an antibiotic from day one. It made no sense, he said, but why the heck not.

Though it was possible she had an infection whose signs we missed and that the antibiotic cleared up, my take was that it was a coincidence. Some antibiotics have anti-inflammatory effects on arthritis when used over time, but I didn’t think arthritis was the underlying cause of her leg swelling either.

Even though Mrs. Schulman recovered in the aftermath of antibiotic treatment, I wasn’t convinced it made a difference. Whatever made the swelling subside was as mysterious as whatever had caused it.

In up to a quarter of the cases of single-leg swelling with negative venograms, no precise cause is ever identified. Plenty of questions 
cannot be answered by 
diagnostic tests, and often, symptoms fade before we can pinpoint their exact cause. Time may not heal all wounds, but as far as I am concerned, it worked for this one.

Anna Reisman
is an internist in West Haven, 
Connecticut. The cases described
 in Vital Signs 
are real, but names and certain 
details have been changed.

№12:Vital Signs: "We Can Take His Heart Out, Remove the Tumor, and Put It Back In"

A patient’s heart tumor is all but inaccessible to 
his surgeons. The only way to deal with it: 
Remove the heart and operate on it outside the body.

By W. Roy Smythe|Wednesday, May 09, 2012

I was in the middle of a normal clinic day, seeing candidates for surgery, when a nurse told me that one of them had arrived with a diagnostic video. When I had a free moment, I walked over to a computer and put the CD into the drive. As the program booted up, I noticed that the video was a cardiac MRI (magnetic resonance imaging) study. I clicked through the images, and what I saw was frightening. A large mass was growing in the patient’s heart, in the back wall of the left atrial chamber, perhaps the worst possible place to have a problem like this. The right atrium and both ventricles are somewhat accessible to the surgeon’s knife. But the left atrium at the back of the heart next to the spine is a difficult, if not impossible, area to reach.

As I watched the video, more details emerged. As the left atrium attempted to pump blood, the wall opposite the growth ballooned out awkwardly instead of contracting with the rest of the chamber, its movement altered by the growth. The mass also took up a lot of space and was impeding blood flow. If it got just 5 percent larger, the chamber would be almost completely obstructed, resulting in a high risk of sudden death.

I called one of my cardiac surgery colleagues, Mike Reardon, and asked him to take a look.

“Oh, man,” Mike said, “that’s a tumor, all right—and in a bad place.”

My own heart sank. Primary tumors, which originate in tissues rather than spreading there from some other place in the body, are uncommon in the heart. They occur in less than 0.05 percent of autopsies. Seventy-five percent of them are benign, but this one did not look harmless. Benign tumors typically grow out from the surface of the cardiac wall like a mushroom on a stalk; malignant tumors look more like a bulge of varying thickness in the wall. Most cardiac surgeons will encounter only a few benign primary tumors in a career, and many will never deal with a malignant one.

“If we were to think about removing it,” I asked, “how would we approach it?”

“How old is the patient?”

“Thirty-seven,” I answered.

“Any history of coronary disease?”

“The transfer notes don’t mention anything.”

“Good,” said Mike. “There might be one way to remove this, but it is drastic. We can take his heart out of his body, remove the tumor, reconstruct the heart, and put it back in.”

“Okay…wow,” was all I could say.

He was describing an extremely rare procedure: a cardiac auto-transplant. We would operate on the heart outside the chest cavity and use cardiopulmonary bypass to support his body while we worked. The first successful auto-transplant to remove a cardiac tumor was performed in the 1990s. Since then, the procedure has been undertaken fewer than 50 times worldwide.

Mike and I went into the exam room to discuss the options with the patient, Mr. Johnson, and his wife. We told him the mass was probably a cardiac sarcoma, a malignant tumor originating in either the heart muscle or the blood vessels located there. We also told him that he faced significant risk of sudden death if the chamber became completely blocked, and that chemotherapy was usually ineffective for larger tumors of this type. Surgery was the only reasonable option, and we needed to move fast.

“However,” I said, “there will be a fair amount of risk.”

“How much risk?” Mr. Johnson asked quickly.

“There are three things to worry about,” I replied. “One is whether or not we can remove the entire tumor. The second is whether we can put the heart back together again so it will function normally. And the last thing is the overall risk of having to stop your heart, remove it, fix it, put it back in, and restart it.”

“We normally quote a 1 to 5 percent risk of dying for heart surgery,” I continued, “but your risk will be higher. The best-case scenario, if all goes well, is perhaps a 10 percent risk, and the worst case would be maybe five times that.”

There was no hesitation. “Let’s do this,” Mr. Johnson said.

Two days later we were in the operating room, where I would assist Mike. As the anesthetizing medications were administered, Mr. Johnson’s blood pressure dropped dangerously. The anesthesia team quickly gave him epinephrine to bring it back up. “Not much blood getting into that left side,” the anesthesiologist said as he looked at the monitor. “That’s why his pressure dropped. Good thing you didn’t wait too much longer.”

We divided Johnson’s sternum and placed retractors to open up the chest. We then cut into the pericardium, the outer sac protecting the heart, and inserted tubing into the large vessels entering and leaving the heart to allow blood to bypass the organ.

“Go on bypass,” Mike said, loudly enough for the technicians managing the pump behind us to hear. The heart began to empty of blood.

We put a cold saline slush around the organ to help put it into a kind of suspended animation. Then Mike and I went to work, using surgical scissors and scalpels to sever the vessels entering and leaving the heart. Once the large vessels and other attachments were cut, Mike lifted the organ out of the body.

I looked into Mr. Johnson’s open chest as Mike placed this cold, now flaccid heart on an operating table a few feet away. Where his heart should have been was a void with tubes leaving it from the margins.

The only other time a doctor has this view is during a heart transplant, after the removal of the diseased organ and immediately before placing a donor heart into the recipient’s chest. The difference in this situation, however, was critical. During a transplant, we never take out the diseased heart until we have the new one in the room. In this case, there was no new heart and a chance we wouldn’t be able to fix the one we had taken out.

Mike and I worked quickly at the table, using our scalpels to remove the tumor.

“It’s bigger than it looked in the images,” Mike said, “but I think we got all of it.”

We placed the tumor and the portion of the fleshy heart wall that we removed in a small plastic bucket to transfer to a pathologist. He would check the tissue to make sure that we had removed the entire mass.

A few moments later, the pathologist called into the room. “There is some microscopic tumor at the margin,” he said.

Mike stared down at the opening in the back of the heart where the tumor had been.

“If we take any more,” he said, “we may not be able to reconstruct it.”

“We can try chemotherapy,” I replied. “It has a better chance of working with microscopic disease. Better to have a chance than not to leave the O.R.”

“I agree,” he said. “We don’t have much time. We need to get this organ back in there.”

He sewed a piece of bovine pericardium—the heart sac from a cow—into the opening left by the removed tumor. We then carried the heart back over to the patient and placed it in the void.

We sewed the large vessels back together and allowed the heart to gradually warm. We knew that a healthy organ will often start to beat once it is warmed, even without a blood supply reestablished.

But nothing happened.

We continued to work, completing the suture lines. Blood began to flow back into the coronary vessels.

“No action here,” the anesthesiologist said, watching the electrocardiogram.

Mike inserted a small needle into the muscle to measure the temperature. “Should be working; the temp is good,” he said.

Several more seconds passed. Still nothing.

Then we noticed a quiver near the apex of the heart, followed by another, and then the heart sprang back to life, beating vigorously. We removed the tubes and closed Mr. Johnson’s sternum.

Our patient made a good recovery and was discharged from the hospital several days later. After a regimen of chemotherapy to treat the microscopic tumor left on the heart, he had a good chance of complete remission and possibly even a cure.

W. Roy Smythe is chairman of surgery for theTexas A&M Health Science Center College of Medicine. The cases described in Vital Signs are real, but names and certain details have been changed.