A Heart Disease Veteran at Just Age 12 (5/4/2012)

A Heart Disease Veteran at Just Age 12

Survivor stresses importance of asking questions and pushing for answers.

By Serena GordonHealthDay Reporter
FRIDAY, May 4 (HealthDay News) -- Even youngsters who seem to be in perfect health can be at risk for heart disease. Just ask Heather Link.

When she was 12, Heather was the picture of health as a competitive swimmer. But, several weeks after a dental checkup, she was suddenly engaged in the fight of her life.

She had a condition known as infective endocarditis, which develops when bacteria enter the bloodstream and infect the lining of the heart, a blood vessel or the heart's valves. In Heather's case, a small cut that had occurred during her dental checkup gave the bacteria a way in.

At first, she had no idea she was even sick. But, after some time, she started to feel as if she might have the flu. She had a fever, felt achy and had chills. Her fever spiked to 104 degrees Fahrenheit at one point. Her mother repeatedly took her to the doctor, but it seemed as if Heather just had a viral infection, such as the flu.

But when her condition worsened, Heather's mother took her to an emergency room in Buffalo, N.Y. There, she recalled, a spinal tap revealed the bacteria that were infecting her heart. The infection had seriously damaged her heart's aortic and mitral valves, and she needed immediate open heart surgery to repair the damage.

Though just a kid then, Link recalled not being scared before the surgery. "I was so weak and so sick at that point, that I don't really remember much of what was going on," she said.

Several weeks later, she started to have symptoms of heart failure, such as severe shortness of breath, and she had another surgery to fix the repairs that had come undone. But her symptoms continued.

"I couldn't keep any food in," she recalled. "I was losing weight. All I could do was lie on the couch and watch TV," she said, noting the sharp contrast to how she had been living before the surgeries.

Ultimately, she had a third surgery, this time at Brigham and Women's Hospital in Boston, and felt better for a while. She went home and started seventh grade, but by December she was having chest pains.

Not taking any chances, her parents took her back to Boston, and she went into cardiac arrest when she got to Brigham and Women's Hospital. By now, her heart had been under so much stress that her doctors decided to put her on a ventricular assist device. For about a week, the device took over the work of her heart and lungs, allowing them to rest. Then there was one last surgery, to remove it.

"The ventricular assist device allowed my own heart to recover and saved me from needing a heart transplant, which would have changed my life dramatically," Link said.

Instead, she was back in the pool about nine months after the device was removed. And doctors told her that she probably owed her life to swimming.

"They told me that competitive swimming saved my life because I was in such good shape and had a strong heart," Link said. "If I were just a normal kid, they said I probably wouldn't have made it."

However, Link said, her heart never completely recovered. It works at about 70 or 75 percent of what it once did, she said, but she's had no more surgeries and is as active as she wants to be. She's 26 now and teaches first grade.

She also works to raise awareness of ventricular assist devices through Abiomed, the company that manufactured her device. She wants people to know that there are viable options to heart transplants.

And for others who might find themselves in a similar situation, Link stressed the importance of being aware of all options and not being afraid to ask questions.

"If my mom hadn't pushed so hard for me to see the doctors in Boston, I wouldn't be here," she noted. "As much as I hate what happened to me at the time, people have learned from it, and in our area, things have changed now that the doctors are more aware that this can happen."

Source: http://www.womenshealt.gov/new/news/headlines/660254.cfm/

Experimental Drug Shows Promise Against Cushing's Disease (3/7/2012)

Experimental Drug Shows Promise Against Cushing's Disease

In phase 3 trial, symptoms improved in people with rare hormonal disorder, study found.
WEDNESDAY, March 7 (HealthDay News) -- An experimental drug called pasireotide reduced levels of the "stress hormone" cortisol and improved symptoms in patients with Cushing's disease, a new study found.

Cushing's disease is a rare (three to five cases per million people) hormonal disorder that causes a wide range of health problems and, if untreated, significantly increases a patient's risk of dying at a much younger age than normal, researchers said in a news release.

Weight gain, high blood pressure, mood swings, irregular or absent menstrual periods, insulin resistance, glucose intolerance and type 2 diabetes are among the symptoms of Cushing's disease. It is a form of Cushing's syndrome, which is caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol.

This phase 3 study of 162 patients in 18 countries found that treatment with pasireotide reduced cortisol secretion by an average of 50 percent and returned some patient's cortisol levels to normal.

A phase 3 study means that a drug is in the final stages of testing that drugs undergo before they can be approved for treatment of a specific disease.

The study, funded by Novartis Pharma, appears in the March 8 issue of the New England Journal of Medicine.

Dr. Spyros Mezitis, an endocrinologist at Lenox Hill Hospital in New York City, is not associated with the study but is familiar with its findings.

Mezitis said the study showed that the experimental treatment "improved metabolic abnormalities and emotional difficulties. Therefore, pasireotide injections become an alternative to surgical resection of the pituitary ACTH-secreting tumor, and may be shown to work with the FDA-approved mifepristone, which blocks the action of cortisol at receptors in the body."

Elevated blood sugar (glucose) levels occurred in 73 percent of the patients who took the drug, a side effect that requires close attention, according to senior study author Dr. Beverly Biller, of Massachusetts General Hospital.

Cushing's patients already have difficulty processing glucose, she noted.

"Those patients who already were diabetic had the greatest increases in blood sugar, and those who were prediabetic were more likely to become diabetic than those who began with normal blood sugar," Biller said in the hospital news release. "So this is real and needs to be monitored carefully."

Mezitis agreed that careful patient monitoring is important. "Blood-sugar elevations are dose-dependent with pasireotide and will need to be managed as indicated for diabetes," he said.

Source: http://www.womenshealt.gov/new/news/headlines/662454.cfm/

Experimental Drug Offers Hope for Rare Bone Disease: Study (3/7/2012)

Experimental Drug Offers Hope for Rare Bone Disease: Study

Replaces missing enzyme in babies with severe hypophosphatasia.

By Serena GordonHealthDay Reporter
WEDNESDAY, March 7 (HealthDay News) -- A new therapy may be the first to offer hope for children born with a rare disease that affects bone development, sometimes so severely that babies die because they're missing a rib cage to protect their lungs.

The inherited disorder is called hypophosphatasia, and the new medication is asfotase alfa. It works by replacing an enzyme that's missing in those with hypophosphatasia. Enzymes are substances responsible for speeding up certain chemical reactions. In hypophosphatasia, the missing enzyme is necessary for proper bone growth and normal metabolism.

A small study of babies and children younger than 3 who had debilitating or life-threatening hypophosphatasia found that treatment with asfotase alfa strengthened bones and improved lung function. After 48 weeks of treatment, many could start bearing weight on their legs and some infants were even taking their first steps.

"We saw striking improvements in these patients with severe hypophosphatasia who received the enzyme replacement," said the study's lead author, Dr. Michael Whyte, medical-scientific director of the Center for Metabolic Bone Disease and Molecular Research at Shriners Hospitals for Children in St. Louis. Whyte is also a professor at Washington University School of Medicine in St. Louis, which conducted the study jointly with Shriners and other institutions.

Results of the research are published in the March 8 issue of the New England Journal of Medicine.

Severe hypophosphatasia affects about 1 in 100,000 babies born in the United States, according to the National Library of Medicine. It's estimated that more people may have the disease, but in far milder forms. The severity of the disease can range from life-threatening to simply causing dental problems in adults, according to background information in the article.

The enzyme in hypophosphatasia that isn't available in sufficient quantity is called alkaline phosphatase. It's responsible for the mineralization of bones and teeth. Mineralization is the process that causes minerals like calcium and phosphorus to be deposited in developing bones and teeth, according to the National Library of Medicine. Without enough alkaline phosphatase, several other substances can build up and cause damage.

There are no approved medical treatments for hypophosphatasia, according to the study.

The current study involved 11 children. All were given an initial intravenous infusion of asfotase alfa, followed by shots of the medication three times a week.

Parents of one baby removed their child from the trial during the initial intravenous treatment. A second baby died from an unrelated infection after more than seven months of treatment.

The remaining nine children have received at least 18 months of treatment with asfotase alfa.

X-rays taken at the start of the study and at weeks 24 and 48 showed significant improvement in bone formation after treatment. In addition, the babies showed improvement in lung function, physical skills, and in the development of intelligence, according to the study.

The treatment was "very well tolerated," Whyte said. And, he added, there was no evidence that the children were developing resistance to the drug.

Treatment with asfotase alfa needs to be ongoing, and it's not yet clear if there are long-term side effects. Whyte and his colleagues are continuing to study the patients enrolled in this trial. He said that he believes children born with the severe or life-threatening form of the disease should be given this medication, even though it's still considered experimental. The reason, he said, is the severe form of this disease is "invariably lethal, usually soon after birth."

Dr. Spyros Mezitis, an endocrinologist at Lenox Hill Hospital in New York City, said the research is promising and groundbreaking. "They're correcting an inborn error of metabolism and mimicking what the body does," he said. "It would be like making someone with type 1 diabetes start making insulin on their own, rather than just replacing it from the outside. I think this will serve as a model for other types of diseases."

But, he added, the current patients will need to be closely monitored as they grow, and that there is a need for further studies.

The study was funded by Shriners Hospitals and Enobia Pharma, which was acquired last month by Alexion Pharmaceuticals. Whyte was a consultant for Enobia Pharma, according to a Washington University news release.

Source: http://www.womenshealt.gov/new/news/headlines/662508.cfm/