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WASHINGTON – If breast cancer runs in the family, women can be at high risk even if they test free of the disease's most common gene mutations, sobering new research shows. The genes BRCA1 and BRCA2 are linked with particularly aggressive hereditary breast cancer, and an increased risk of ovarian cancer, too.
When a breast cancer patient is found to carry one of those gene mutations, her relatives tend to breathe a sigh of relief if they test gene-free.
But those headline-grabbing genes account for only about 15 percent of all breast cancer cases. Even in families riddled with breast cancer, a BRCA gene is the culprit only in roughly one family of every five that gets tested, said University of Toronto cancer specialist Dr. Steven Narod.
So clearly members of those families remain at risk from other yet-to-be-found genes, but how much risk?
Narod tracked nearly 1,500 women from 365 breast cancer-prone families, who tested negative for BRCA1 and BRCA2 mutations.
After five years, those women had a fourfold higher risk than average women of developing breast cancer, Narod reported Monday at a meeting of the American Association for Cancer Research.
This is crucial information for women considering gene testing, said Georgetown University genetics counselor Beth Peshkin, who wasn't part of the study.
"This is contrary to what I think the common perception is," Peshkin said. "Unless a mutation is identified in the family, a negative test result doesn't provide reassurance."
The good news: Narod's study showed these women didn't have an increased risk of ovarian cancer, like BRCA1- and BRCA2-carriers do.
While the $3,000 BRCA tests are well-accepted, newer tests for other genes linked to breast cancer are coming on the market.
But "the family history is a much stronger predictor," stressed Narod. He recommends that such women take the anti-cancer drug tamoxifen and undergo MRI cancer checkups instead of easier mammograms "regardless of what other gene tests showed."
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WASHINGTON – What was left of Dan Sivia's ankle simply didn't work. He limped through his 30s by sheer force of will, one foot almost completely immobile from repeated broken bones and surgeries. Then a doctor offered his last hope: An ankle replacement. A what? Sivia knew about hip, knee, even shoulder replacements. But ankles?
His confusion is understandable: The first ankle replacements of the 1970s were abandoned when they couldn't withstand the pounding of daily life. A second generation in the '90s lasted longer but never became really popular.
Now the nation is embarking on a new generation of artificial ankles designed to work more like the joint you're born with, a move specialists hope finally will offer less pain and more function to thousands who hobble — although it's too soon to be sure.
"These third-generation prostheses really mimic a natural ankle, which is really what makes them different," says ankle specialist Dr. Steven L. Haddad of the Illinois Bone and Joint Institute and an orthopedic surgery professor at Northwestern University.
If the newer implants pan out, it's a market ripe for growth. More than 200,000 people seek care for ankle pain annually, with few options for the severely damaged. More than 8,000 a year get their ankle bones fused, a last-ditch treatment after years of suffering, while surgeons perform between 2,000 and 2,500 ankle replacements.
While Medicare pays for ankle replacements, which Haddad says can reach $50,000 including a three- to five-day hospital stay, many other insurers don't. And a review in September's Journal of the American Academy of Orthopedic Surgeons cautions that so far, there is little research to tell how long newer versions will last — and that few hospitals have much practice in implanting them.
But for Sivia, the surgery restored an ability to walk that the 39-year-old thought he'd forever lost. His leg was crooked from a series of breaks that began in childhood and included a crushing ankle fracture at 28. A decade of pain later, he sought out Haddad. Then he spent 17 months on crutches, with external pins holding bones in place, as Haddad rebuilt his leg. The last surgery, the ankle implant, came in July.
"When I got to rake my own lawn — I've done it three times just because I can," the Waukegan, Ill., man said with a laugh. "I'm riding my bike, I'm doing all the things everybody else is doing."
Haddad says ankle sufferers tend to move like a sidewinder snake, one foot gingerly turned out to the side while the other foot does the heavy pushing to walk. They might have standard arthritis. But usually, fractures from years earlier — sometimes broken ankles, but often broken legs that left the entire lower limb out of alignment — simply made the ankle and its cushioning cartilage wear out.
Fusion — eliminating the pain-causing friction by permanently connecting ankle bones so they won't move — is usually an easy operation, with about 5 percent who fail to heal. The disadvantage is a stiff ankle that limits the foot's range of motion and eventually causes a domino effect, wearing out smaller joints in the foot to cause more pain until they, too, are fused.
Hence the quest for artificial ankles that would allow a fully flexible foot and normal gait.
That's not an easy task. The ankle joint is smaller than the hip and knee and must absorb more force than its sister joints, Dr. Keith Wapner of the University of Pennsylvania told a recent American Academy of Orthopedic Surgeons meeting.
The Food and Drug Administration began clearing so-called third-generation ankle implants in 2005, versions that Wapner expects to last longer. Each model is slightly different but consists of two attached parts. Surgeons drill a tunnel into the lower leg bone and slide in the stem of the artificial joint. A bottom piece connects to the top of the foot. Thin plastic hooked to one side functions as cartilage. Bone then grows into the implant, holding it in place.
In Europe, doctors also can use a similar but three-piece artificial ankle, where the plastic cushion is free-floating. Amid questions about whether that approach is better or worse, the FDA is evaluating whether to allow it here.
So which is better, fusion or replacement?
It all depends on age and activity. Even if these new ankles last more than a decade as Haddad expects, someone who jogs or mountain climbs will wear theirs out faster than someone who is sedentary. Also, different patients have different risks of wound infections.
"If you're someone that does not mind having additional surgeries on your ankle in the future as a trade-off to get better function, then a replacement is a better option," Haddad tells patients. "If you want to take care of it once, you have to opt for a fusion."
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HUNTINGTON, W.Va. – As a portly woman plodded ahead of him on the sidewalk, the obese mayor of America's fattest and unhealthiest city explained why health is not a big local issue.
"It doesn't come up," said David Felinton, 5-foot-9 and 233 pounds, as he walked toward City Hall one recent morning. "We've got a lot of economic challenges here in Huntington. That's usually the focus."
Huntington's economy has withered, its poverty rate is worse than the national average, and vagrants haunt a downtown riverfront park. But this city's financial woes are not nearly as bad as its health.
Nearly half the adults in Huntington's five-county metropolitan area are obese — an astounding percentage, far bigger than the national average in a country with a well-known weight problem.
Huntington leads in a half-dozen other illness measures, too, including heart disease and diabetes. It's even tops in the percentage of elderly people who have lost all their teeth (half of them have).
It's a sad situation, and a potential harbinger of what will happen to other U.S. communities, said Ken Thorpe, an Emory University health policy professor who is working with West Virginia officials on health reform legislation.
"They may be at the very top, but obesity and diabetes trends are very similar" in many other communities, particularly in the South, Thorpe said.
The Huntington area's health problems, cited in a U.S. health report, are a terrible distinction for the city, but the locals barely talk about it. Many don't even know how poorly the city ranks.
Culture and history are at least part of the problem, health officials say.
This city on the Ohio River is surrounded by Appalachia's thinly populated hills. It has long been a blue-collar, white-skinned community — overwhelmingly people of English, Irish and German ancestry.
For decades, Huntington thrived with the coal mines to its south, as barges, trucks and trains loaded with the black fuel continually chugged into and past the city. There were plenty of manufacturing jobs in the chemical industry and in glassworks, steel and locomotive parts. Nearly 90,000 people lived in the city in 1950.
The traditional diet was heavy with fried foods, salt, gravy, sauces, and fattier meats — dense with calories burnt off through manual labor. Obesity was not a worry then. Workplace injuries were.
But as the coal industry modernized and the economy changed, manufacturing jobs left. The city's population is now fewer than 50,000, and chronic diseases — many of them connected to obesity — seem much more common.
Shari Wiley is a nurse at St. Mary's Regional Heart Institute in Huntington. She runs a program that identifies heavy school children and tries to teach them better eating and exercise habits. The effort began because of an alarming trend.
"A lot of the patients we were seeing were getting heart attacks in their 30s. They were requiring open heart surgery in their 30s. And we were concerned because it used to be you wouldn't see heart patients come in until they were in their 50s," Wiley said.
The Huntington area is essentially tied with a few other metro areas for proportion of people who don't exercise (31 percent), have heart disease (22 percent) and diabetes (13 percent). The smoking rate is pretty high, too, although not the worst.
However, the region is a clear-cut leader in dental problems, with nearly half the people age 65 and older saying they have lost all their natural teeth. And no other metro area comes close to Huntington's adult obesity rate, according to the report by the U.S. Centers for Disease Control and Prevention, based on data from 2006.
Perhaps fittingly, hospitals are now Huntington's largest employers. Another is Marshall University, home of the "Thundering Herd" football team depicted in the 2006 film "We Are Marshall" which dominates local sports conversations.
The river runs along the edge of town, but it's not a focal point. Marshall and one of the city's remaining factories sit to the east with several blocks of hotels and office buildings farther west. A new complex called Pullman Square — which includes a movie theater and a Starbucks — is trying to become a retail and dining center and illustrates a transition to a service economy.
The area's unemployment rate was about 5 percent in September, actually a bit better than the 6.1 percent national average that month. But often the jobs are not high-paying. Many workers lack health insurance, and corporate wellness programs — common at large national companies — are rare.
Poverty hovers, with the area rate at 19 percent, much higher than the national average. In the hilly coal fields to the South, people still live in houses or trailers with drooping, battered roofs. They stare hard at any stranger in a new car. In Huntington and its outskirts, many people think of exercise and healthy eating as luxuries.
The economy needs to pick up "so people can afford to get healthy," said Ronnie Adkins, 67, a retired policeman, as he sat one recent morning on the smoking porch of the Jolly Pirate Donuts shop on U.S. 60.
Doughnut shops don't help either, of course. But breakfast pastry shops aren't the most common outlets for fatty food. Pizza joints are. They are seemingly on every block in some parts of the city. The online Yellow Pages lists more pizza places (nearly 200) for the Huntington area than the entire state of West Virginia has gyms and health clubs (149).
Hot dog places also abound, with the city hosting an annual hot dog festival every summer. "I've never seen so many places that are hot dog oriented. I guess it's a cultural thing. Appalachian," said Mayor Felinton, who grew up in Maryland and moved to Huntington to attend Marshall University and stayed put.
Fast food has become a staple, with many residents convinced they can't afford to buy healthier foods, said Keri Kennedy, manager of the state health department's Office of Healthy Lifestyles.
Kennedy said she had just seen a commercial that presented "The KFC $10 Challenge." The fried-chicken chain placed a family in a grocery store and challenged them to put together a dinner for $10 or less that was comparable to KFC's seven-piece, $9.99 value meal.
"This is what we're up against," said Kennedy, noting it's an extremely persuasive ad for a low-income family that is accustomed to fried foods. "I don't know what you do to counter that."
Lack of exercise is another concern. During a warm and sunny autumn week in Huntington — the kind of weather that would bring out small armies of joggers in some cities — it was unusual to see a runner or bicyclist. The exercise that does occur is mostly confined to a local YMCA, at campus recreation facilities at Marshall, or at Ritter Park in a tony neighborhood south of downtown.
Some attribute the problem to crumbling sidewalks in the city and a lack of walkways along busy rural roads. Others blame it on lack of motivation, as well as a cultural attitude that never included exercise for health.
There's a connection between education and lack of exercise, too, said Dr. Thomas Dannals, a Huntington family physician.
"The undereducated don't know the value of it. They don't have the drive for it. There's a reason you're successful, you've got drive. The same is true for exercise," said Dannals.
Dannals has been trying to change cultural attitudes. The local newspaper has called him "an exercise evangelist" for founding the city's triathlon, marathon and other projects designed to make exercise popular and fun. He's also spearheading a riverfront exercise trail project, called the Paul Ambrose Trail for Health (PATH).
Ambrose was a Huntington physician who died in the Sept. 11, 2001, jet that crashed into the Pentagon. Just before he died, he had been working on a U.S. Surgeon General report on obesity, and was on the plane that morning to attend an adolescent obesity conference in Los Angeles.
But the PATH project, first proposed more than a year ago, has yet to win the necessary funding. The lack of support is not surprising: Dannals can't even get a company to sponsor the Huntington marathon.
Local politicians tend to be equally tepid about improving health, said Dr. Harry Tweel, director of the Cabell-Huntington Health Department.
Smoking — a common sin in West Virginia — has been hard to control, Tweel said. When the health department tried to restrict smoking in local bars and restaurants, a group of local businesses fought it all the way to the state Supreme Court. (The restrictions were upheld in 2003.) Even hospitals have fought smoking restrictions in the past, Tweel said.
Other communities have taken more ambitious steps to control the amount of fat in local restaurant food. In July, the Los Angeles City Council placed a moratorium on new fast food restaurants in an impoverished area of the city with above-average rates of obesity. In 2006, New York City became the first U.S. city to ban artificial trans fats in restaurant foods. Other cities are considering similar measures.
Forget it, Tweel said. Not in Huntington.
"You're mentioning areas (of the country) that are well beyond this local region in accepting that kind of change," said Tweel.
"People here have an attitude of 'You're not going to tell me what I can eat.' The cultural attitude is 'My parents ate that and my grandparents ate that,'" he said.
Mayor Felinton echoed Tweel. Felinton had stomach surgery last year to help him lose weight and has been walking to work about three days a week. He has shed nearly 80 pounds and became sort of a local poster boy for weight loss. But in the midst of a re-election campaign last month, he said he had no plans to plunge into a fight over fat in restaurants.
"We want as much business as we can have here," said Felinton, who lost his recent re-election bid and leaves office in January. "As many restaurants as you have, it kind of enhances the livability. Maybe not the health."
To be fair, most people in Huntington don't seem to be aware of how poorly their city looks in national health statistics.
The latest numbers came from the CDC report, released in August, but little-publicized. It was based on survey data from 2006, comparing about 150 metropolitan areas. The Huntington area includes five counties — two in West Virginia, two in Kentucky and one in Ohio.
Of the 40 Huntington-area residents interviewed for this story, many had heard something about West Virginia being one of the unhealthiest states. But only one — Tweel — knew about the latest report showing how bad Huntington compared with other metro areas.
Some doctors, on hearing the statistics, noted the Huntington area is not in such bad shape by West Virginia standards. A recent state study found that health problems are significantly worse in the more rural coal counties to the south. But those places didn't show up in the CDC report, because they were too small.
Still, Huntington is an unusually obese place, said Dr. John Walden, chairman of the family and community health department at Marshall University's medical school.
Walden is a third generation physician in the area, but he's also traveled extensively around the world. He says it's always a little jolting coming home and realizing how obese his hometown is compared to the rest of the world.
"I don't know that I've ever been in a place where I've seen so many overweight people," he said.
WASHINGTON – If breast cancer runs in the family, women can be at high risk even if they test free of the disease's most common gene mutations, sobering new research shows. The genes BRCA1 and BRCA2 are linked with particularly aggressive hereditary breast cancer, and an increased risk of ovarian cancer, too.