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Diagnosis

Traveling in Vietnam, His Leg Swelled Terribly. Had He Caught Something?

Credit...Illustration by Andreas Samuelsson

It was almost dawn when the 19-year-old was awakened by terrible leg pain. He had no idea how long he was asleep, but it had been a horrible night so far. He and his father arrived in Hanoi the day before. They’d spent the day seeing the sights, and the evening eating — then drinking. He’d come back to the hotel jet-lagged and hot and a little drunk. He made it to his bed and fell asleep fully clothed. A few hours later, he was woken by cramps in his stomach. Over the next couple of hours, everything he’d taken in that evening came out. It was awful. Only when there was nothing left could he go back to bed.

But now there was this strange, painful sensation of pressure on his lower right leg. The predawn light was enough to see that his right calf and foot were hugely swollen. His left leg was fine, but the pants covering his right calf were stretched tight. He peeled the denim down his leg. What he saw didn’t even look like a leg — certainly not his leg. No bones were visible. Not his shin, not his ankle. His normal-size toes looked tiny and foreign at the end of this strange sausage.

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Credit...Illustration by Andreas Samuelsson

When his father woke up, he looked at the boy’s leg and called the front desk. A local doctor wasn’t sure what the boy had but recommended that he see his doctor when he got home.

Could It Be a Parasite?

The young man felt fine for the rest of the trip, except that his sightseeing was limited by his swollen foot. Once he got back to his apartment in Boulder, Colo., he went to the urgent-care center. They ordered blood tests to look at his kidneys and liver, the most common culprits in leg swelling. They checked the young man’s thyroid level — too little of that hormone can also lead to edema, an excess of fluid building up in the body. And he was sent for an ultrasound of his leg: He’d been on long transcontinental flights, which can cause clots to form. The blood tests were all completely normal, and the ultrasound showed nothing but early signs of varicose veins. That was probably the cause of the swelling.

The young man tried using a compression stocking and elevating his leg as the doctors suggested. That helped, but after a few months, his leg was as big and painful as it had ever been. One afternoon his leg hurt so much that he went to the emergency room at Boulder Community Hospital. Once again blood was taken and an ultrasound done. The results were the same — normal. But the E.R. doctor was struck by the fact that the edema started while he was traveling in Southeast Asia. In some tropical regions, a mosquito-borne parasite can invade the system of delicate vessels that circulate the protein-rich fluid known as lymph throughout the body, a key part of our immune system. Those parasites can clog the system, causing swelling. He referred the patient to Dr. Todd D. Turner, an infectious-disease specialist in Boulder.

Other More Dangerous Possibilities

After hearing the young man’s story, Turner dismissed the possibility that this was lymphatic filariasis, the formal name for this parasitic infection. The resulting swelling — sometimes so significant it’s called elephantiasis — takes decades to manifest.

Turner pressed his thumb into the leg where he knew the shinbone must be. His digit sank a good half inch into the swollen flesh. The swelling, he reasoned, was probably caused by an obstruction. But where? The two ultrasounds showed that he had no clot in the vessels of the lower leg. Perhaps the obstruction was located higher up? Because so many of the possible causes of this swelling had been investigated, Turner was worried about cancer. He ordered a CT scan of the young man’s abdomen and pelvis to look for a mass or enlarged lymph nodes compressing the vessel. And an M.R.I. of the thigh.

The young man came to Turner’s office to get the results. The CT scan and M.R.I. were normal. Turner also thought the problem was in the patient’s lymphatic system, causing a disorder known as lymphedema. As lymph flows through the body, it takes up excess fluid and detritus from the tissues — usually dead cells and sometimes invading bacteria. The fluid then passes through the lymph nodes, where it is filtered and returned to the bloodstream. It’s a circulation that normally works so well we don’t even think about it. But not in his case. Something was going awry. The young man could barely bring himself to listen. All he really heard was that it couldn’t be fixed. He left feeling discouraged.

His Grandmother Steps In

The patient’s grandmother, who lived in Denver, was very concerned about his leg and asked her grandson to call right after his appointment with Turner. When he didn’t, she called him. What kind of problem with your lymphatic system? she pressed after hearing his brief summary. He couldn’t remember, he told her. It started with the letter H. You didn’t write it down? she scolded.

As soon as his grandmother got off the phone, she turned to the internet. She couldn’t find a single lymphedema that started with an H. She called her grandson again. Could Turner have said he had an inherited, or “hereditary,” lymphedema? Yes, that was it. Hereditary. That made sense to the grandmother. Her daughter-in-law, the young man’s mother, had persistent leg swelling just after her pregnancy. Sadly, she died a few years earlier from lung cancer. Could he have inherited something from her?

The Key Is in the Eyelashes

Further searches revealed nearly a dozen different types of inherited diseases causing lymphedema. She scrolled through the description of each. Suddenly a detail caught her attention: There was one genetic disorder that results in leg swelling and a double row of eyelashes. Her daughter-in-law had thick, beautiful lashes and often complained about their tendency to poke into and irritate her eyes. Moreover, this inherited condition was also associated with a risk of a cleft palate, which her grandson had when he was born. Could this disorder, called lymphedema-distichiasis (from the Greek, meaning a double row of eyelashes) be the culprit?

She texted Turner, letting him know what she found. The doctor was amazed. He’d never heard of this disorder. Nor did he know much about the patient’s mother — or the fact that the patient had been born with a cleft palate.

Now the doctor turned to the internet. The disorder was caused by a mutation in a gene called FOXC2. Although the gene was identified years ago, it still wasn’t clear why these patients develop lymphedema, or have extra eyelashes. The only treatment was directed at managing the symptoms: mobilizing the fluids with massage, elevation and compression stockings and eating a low-sodium diet to reduce the fluid retained.

Born to Swell

A child of someone with lymphedema-​distichiasis has a 50 percent chance of getting it, too. Affected males usually develop swelling at puberty. Females tend to develop it a little later in life — often, like this young man’s mother, at the time of their first pregnancy. Why the swelling starts at all is still unclear.

A genetic test confirmed that the young man had the abnormal gene. Maybe, he told me, when he’s older and thinking about children, he’ll be interested in talking with a genetics counselor. Until then, though, he’s tired of the whole subject and ready to do what it takes to manage this and move on. He wears his compression stocking and eats as low sodium a diet as he can manage as a noncook. His right leg is never as thin as his left, but it mostly doesn’t hurt and gets him around.

His grandmother, for her part, was delighted that Turner was open to what she found. “We needed each other to figure out what was going on,” she told me. “He is the expert on medical information, and of course that’s essential. But I was the expert on my family, and that was important, too. Not every doctor is as open as Dr. Turner to that kind of expertise.”

Lisa Sanders, M.D., is a contributing writer for the magazine and the author of “Every Patient Tells a Story: Medical Mysteries and the Art of Diagnosis.” If you have a solved case to share with Dr. Sanders, write her at Lisa.Sandersmd@gmail.com.

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A version of this article appears in print on  , Page 16 of the Sunday Magazine with the headline: Traveling in Vietnam, His Leg Swelled Terribly. Had He Caught Something?. Order Reprints | Today’s Paper | Subscribe

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