Weight-loss surgery triggered rare genetic wasting disorder

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KINGSTON SPRINGS, Tenn. -- A year after gastric bypass surgery, Hilary Lane was no longer a size 24 and was fast on her way to fitting into a slim 6.

Gannett

"I want people to understand the risks involved," says Randy Lane at his Kingston Springs, Tenn. His wife, Hilary, died in April after wasting away to 88 pounds. Gastric bypass surgery triggered a genetic mutation that took over her metabolism. She was 43.

Gannett

"I want people to understand the risks involved," says Randy Lane at his Kingston Springs, Tenn. His wife, Hilary, died in April after wasting away to 88 pounds. Gastric bypass surgery triggered a genetic mutation that took over her metabolism. She was 43.

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 elementary school music teacher had wasted away to 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.

Possible long-term side effects:
-- Permanent damage to the nervous system.
-- Diseases of malnutrition, such as pellagra, beriberi and kwashiorkor, caused by a lack of protein.
-- Hernias.
-- Strictures, or narrowing of the areas where the intestine is joined

Death rates
Within the first 30 days:
-- 0.2 percent among those who had laparoscopic Roux-en-Y, the most frequently performed gastric bypass.
-- 2.1 percent among the small percentage of patients who had open Roux-en-Y gastric bypass, a more invasive procedure.

Long term
Two studies are under way by the National Institute of Diabetes and Digestive and Kidney Diseases, but data have not yet been released.

Death rates for other types of gastric bypass surgeries were not included in the government-sponsored study, which involved 4,776 adults.
Source: National Institutes of Health

"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, 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 other effective options for treating morbid obesity, generally defined as being 100 or more pounds overweight. Hilary Lane weighed more than 300 pounds.

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, 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 Hilary Lane 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 Nashville, Tenn.-area 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.

"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 home about 30 miles west of Nashville.

"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

Medical literature has few documented cases about gastric bypass surgery triggering the genetic mutation into action, according to both Dr. Ronald H. Clements, Vanderbilt University Medical Center's director of bariatric surgery 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.

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."

Types of gastric bypass surgery

-- Adjustable gastric band: Works by decreasing food intake. Less invasive than other surgeries but has a higher failure rate. A small bracelet-like band is put around the top of the stomach. Its size can be inflated or deflated with a circular balloon filled with saline solution inside the bracelet.

-- Roux-en-Y: Makes the stomach, duodenum and upper intestine no longer have contact with food. A pouch is created that sends food directly to the small intestine.

-- Duodenal switch: Removes a large portion of the stomach, reroutes food away from much of the small intestine, and changes how the body absorbs calories. The surgery produces significant weight loss, but it has increased chances for long-term problems, including anemia and osteoporosis.

-- Vertical sleeve gastrectomy: Removes most of the stomach, which may decrease a hormone that prompts appetite. Traditionally done as the first stage of a duodenal switch, but some patients lost weight without the second surgery.

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