Rare Genetic Disorder After WLS

I have copied and pasted this article in full, because I think we need to see all the details of this story.  I have never heard of this issue before, "Urea Cycle Disorder" in gastric bypass patients.  Hilary Lane,  a young vibrant music teacher passed several years after her gastric bypass surgery due to this rare genetic disorder.

I do not post this to frighten anyone, it's just somethng that interests me greatly since I am also a medical mystery since my gastric bypass.


A year after gastric bypass surgery, she was no longer a size 24 and was fast on her way to fitting into a slim 6.

But she never stopped losing weight.

The surgery she had in 2005 triggered a genetic mutation to take over her metabolism and prevent her body from processing proteins. The music teacher at Whitsitt Elementary School had wasted away to only 88 pounds by the time she died in April. She was 43.

While a gastric bypass can help severely obese people maintain a healthier weight and in some cases even cure diabetes, the surgery has its own set of risks. The death rate from the actual surgery is less than 1 percent, but complications can occur later, ranging from calcium malabsorption to the rare genetic disorder that killed Lane.

“I want people to understand the risks involved,” said her husband, Randy Lane, who had hoped to be celebrating his sixth wedding anniversary this month.

The surgery, which is performed on about 220,000 Americans a year, does more than restrict what someone can eat — it also changes how the digestive tract absorbs food. Patients have to maintain special diets, take supplements and be closely monitored.

Yet doctors really don’t have any other effective options for treating morbid obesity, generally defined as being 100 or more pounds overweight. Lifestyle changes, such as diet and exercise, are rarely successful for these patients without surgical intervention. Prescription drugs have been yanked off the market because of adverse — sometimes deadly — side effects. No new diet drug has received U.S. Food and Drug Administration approval in more than a decade, although the agency’s recommending committee has endorsed two medicines, Qnexa and lorcaserin, that could become available later this year.

For Hilary Lane, gastric bypass surgery seemed to be the only option. No one knew then to warn her about a rare and difficult-to-detect genetic disorder called acquired urea cycle failure.

Her problems began about four years after the gastric bypass surgery. Doctors at Vanderbilt University Medical Center were perplexed. No nutritional equation worked because her body was turning protein into ammonia and her liver was failing to convert it to urea. Her body could not excrete the toxin.

Cynthia Le Mons, the executive director of the National Urea Cycle Disorders Foundation, believes the complication that led to Hilary Lane’s death is not as rare as doctors think. She knows of six women who have developed urea cycle failure after gastric bypass surgery since 2007. Five of the six died.

“That’s just the tip of the iceberg,” Le Mons said. “If we know about it, it’s just a microcosm of what is going on.”

The surgery requirements

Although almost a third of Tennessee’s adult population is obese, the number of state residents classified as morbidly obese who would qualify for gastric bypass surgery falls to between 5 percent and 8 percent, said Dr. Ronald H. Clements, Vanderbilt’s director of bariatric surgery.

Hilary Lane qualified. She weighed more than 300 pounds.

Although she was no couch potato, she had been heavy since elementary school, said her sister, Catherine Parks McAfee.

“She was the most active overweight person you have ever seen,” McAfee said. “She was never sedentary. She was diving coach of the Sequoia Swim Club for 25 years and a music teacher at a Metro elementary school, always going, doing choirs and private lessons for piano and all kinds of things.”

Hilary Lane met her husband on Match.com, and their first face-to-face encounter was at a Bellevue restaurant on a winter evening.

“She had a magic smile,” he said. “Her eyes were incredible.”

She had not had the surgery yet, but her weight didn’t keep him from asking her out again.

“I’m not really a vain person,” Randy Lane said. “Outward appearances don’t really affect me. I go more for personality, intellect. You have to be fun.”

The following summer, she told him about her plans to have the surgery. It took place the year before their wedding at Smiley Hollow, a family farm in Ridgetop that hosts special events.

“It was probably the best day of her life,” McAfee said. “I’d say she felt like a princess. She was where she had always wanted to be.”

The first years of the marriage were wonderful. Hilary Lane enjoyed planning weekend camping trips and being close to nature. The couple loved spending mornings on a bend of the Harpeth River near their Kingston Springs home.

“We would sit there in our chairs, drink coffee, read the paper and watch the river float by,” Randy Lane said.

The health complications

The first indication of a problem was the continued weight loss. Later, the ammonia spikes interfered with her thought processes and caused personality changes.

“At first they tested to see if maybe she was throwing up,” McAfee said. “They didn’t know. She had no signs of that. Every time she was in the hospital, there would be more and more questions — almost like we were the first case ever.”

Hilary Lane ended up in the intensive care unit at the Vanderbilt hospital a year and a half ago, but she recovered. Then she got sick again.

“Last fall, she just started deteriorating,” Randy Lane said. “It was a cruel, cruel disease. You can’t do anything about it. You just watched her get weaker and weaker. When her ammonia level would go up, things didn’t make sense to her. She hurt all the time from last September until she passed. She was in constant pain.”

The genetic disorder, which typically affects children, involves a deficiency of an enzyme that removes ammonia from the bloodstream. Eating protein causes ammonia spikes, but when people with the disorder don’t eat protein, their bodies begin breaking down lean muscle mass.

“We were in this dilemma,” he said. “She would take nutrients but her ammonia level would go up, and to get her ammonia level down, of course, she couldn’t take any nutrients. That’s the cycle she got into.”

The family did not learn until shortly before her death that she had acquired urea cycle failure.

The genetic disorder

There are few documented cases in medical literature about gastric bypass surgery triggering the genetic mutation into action, according to both Dr. Clements at Vanderbilt and Le Mons, who heads the foundation for the disorder.

Testing for the mutation before the surgery is a challenge because more than 300 mutations have been linked to the disorder, Le Mons said.

“Those are just the known ones,” she said. “We have kids and adults coming out of the woodwork with new mutations all the time.”

Every medical decision involves a risk-benefit analysis, Clements said, and patients are warned about complications from gastric bypass surgery. However, it has proven to work better than anything else to help morbidly obese people maintain a healthy weight, he said.

Even those who are able to lose 100 pounds without surgery often gain it back.

“I’ve had some patients lose 500 pounds over their lifetime, gaining and losing, gaining and losing that same 100 pounds or so,” he said. “Bariatic surgery is absolutely not the perfect fix-all, be-all, everything is going to be lovely afterward. That’s not true either. There are risks associated with the operation — absolutely no question about that.”

Clements said anyone who has the surgery requires long-term follow-up. Bone density is something doctors watch.

“When you do a gastric bypass, you decrease the absorption of fat,” he said. “Vitamin D has to be dissolved in fat before your body can absorb it. So when you cut down on fat absorption to be able to lose weight, you also cut down on the ability to absorb vitamin D. The area of the intestine that we bypass in the gastric bypass is also largely responsible for calcium absorption.”

But the benefits of the surgery far outweigh the risks, Clements said.

Randy Lane wants people to realize that those risks are real.

“I’m not mad at the surgeon that did it,” he said. “I’m not mad at Vanderbilt. I’m not mad at anybody. This is just something that happened. But there’s got to be a Ph.D. out there that can figure this out.”


I understand that feeling.  -MM



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