Saturday, April 9, 2011

Health - Diagnosis: Testing the Medical Expertise of the Digital Herd

Health - Diagnosis: Testing the Medical Expertise of the Digital Herd

Diagnosis: Testing the Medical Expertise of the Digital Herd

Posted: 08 Apr 2011 06:33 AM PDT

For the past nine years, this column has presented medical mysteries that doctors eventually solve. Recently, we tried something different: posting a tough-to-diagnose case on on the New York Times Well blog (well.blogs.nytimes.com) and challenging readers to try to figure out what was wrong with the patient. More than 1,300 people responded with a lively combination of questions and answers. Now, you can try to crack the case and follow the crowd-sourced medical conversation.

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Symptoms
A healthy 10-year-old girl told her mother that she was losing a lot of hair when she showered. Her mother didn’t give it much thought, until one morning when she saw for herself how much hair remained on her hands after making a ponytail for her daughter. Looking at her child’s head in the sunlight later that morning, the mother thought that maybe her hair was thinning. She took her to see Dr. Kathryn Italia, their pediatrician in Exton, a suburb of Philadelphia, that afternoon.

The Exam
Although the child seemed well, the doctor was concerned. The girl’s mother, who had two other children, was not a big worrier. There were no other symptoms, but the mother reported that her daughter might have been a little more tired lately. Italia examined the child but found nothing unusual.

Possible Diagnoses
Thyroid disease: Can cause hair loss and fatigue. Lupus and other immune-system diseases: Can also cause hair loss. Metabolic disease: Can disrupt any of the multiple processes the body uses to get energy from food. Testing of blood, kidneys and liver will often reveal its presence.

Results
All tests were unremarkable except for two enzymes (ALT and AST) that signal liver injury and were four times higher than normal.

The Follow-Up
Italia ordered an ultrasound of the liver and a repeat of the liver-function tests. (A mild viral infection can frequently cause a transient elevation in these enzymes.) Additional tests looked for other common infections and diseases that can cause abnormal liver enzymes in children: Epstein-Barr virus (the infectious cause of mononucleosis); viral hepatitis; celiac disease, a disorder in which the immune system attacks the small intestine in response to a food component known as gluten.

Results
The tests revealed that only the liver enzymes were abnormal. Italia referred the girl to Dr. Elizabeth Rand, a doctor at Children’s Hospital of Philadelphia specializing in pediatric liver disease.

Specialist’s Exam
Rand’s first thought was that this child did not look like someone with chronic liver disease. The girl reported that she had no trouble keeping up with her friends, but her father added that she wasn’t that active: “Some kids play soccer, some play music.” Their daughter played the violin. As before, the physical exam was normal.

Rand wondered if this could be an inherited liver disorder, like Wilson disease, where excess dietary copper builds up and injures the liver and brain. Or perhaps what looked like liver disease was not — a muscle disease can also produce the elevated enzymes seen in this patient.

Rand ordered a test for ceruloplasmin, the missing protein that causes Wilson disease. She also checked the level of CPK — an enzyme that rises when muscle is injured. If the CPK were high, it would suggest that the problem was not in the liver but in the muscle.

Results
The CPK was elevated — four times the upper limit of normal. The test for Wilson disease was negative. Whatever the girl had, it seemed to be attacking her muscles, not her liver.

Readers’ Responses:
Some readers felt that they didn’t have enough information. Harrismo1 from Portland: ‘‘Has she been exposed to any medications, toxins, vitamins, new skin lotions, live in a house with lead paint?’’

The answer was no. Marcus713 from Seattle worried about her diet: “Is anorexia a possibility?”

The girl is of normal weight, and her mother says her appetite has always been excellent.

Many focused on the girl’s hair loss. Was it related to her life stage? Rene from Ponte Vedra, Fla.: “She is having a growth spurt or is starting puberty.”

Or was it her lifestyle? Sonia from Denmark: “Could the hair loss be caused from stress?”

Barb in Manhattan: “Definitely has to do with the violin practicing — both the muscle use and the stress.”

Another possibility suggested by many was whether the resin she used in her bow was causing the problem.

Some readers demonstrated real House-like thinking — offering exotic diagnostic possibilities overlaid with hints of dark motives. Eric from New York: “I’ll go with accidental chemo-drug ingestion.”

A few suggested we break into her house to look for clues.

Fifty-three minutes after the case went up on the site, SK from Chicago got very close, suggesting an illness in the same tiny family of metabolic diseases as the correct answer: “McArdle’s?”

Then three hours later, B Mull, a physician from Orange County, Calif., made the right diagnosis: “She definitely has a muscle disease. . . . What metabolic myopathy has hair loss? I’m putting my money on Pompe disease.”

He wasn’t the only one who got it. Lisa from Minnesota: “Pompe disease for the muscle issues.”

Lisa is not a doctor, but says she works with people with this disease and recognized the signs.

Diagnosis
In the girl’s case, Rand referred the patient to Dr. Carsten Bönnemann, another specialist, who performed a muscle biopsy (a test also requested by many readers), which led to the diagnosis of Pompe disease. A genetic test confirmed the finding.

Pompe disease (pronounced pom-PAY, like the ancient city) is an inherited degenerative disorder. Patients with Pompe are born with a defective version of the enzyme — or without the enzyme at all — needed to break down the stored form of our main energy source, glycogen, into glucose. The buildup of glycogen remnants destroys the muscle and liver cells where it’s stored. These patients tire easily.

The consequences of untreated Pompe disease are devastating. Patients must use a wheelchair and breathing becomes difficult. (The most severe form of this disease was portrayed in the 2010 Harrison Ford film, “Extraordinary Measures.”) The hair loss this patient experienced is not well understood although it has been reported by others.

Because it’s inherited, the patient’s two siblings were tested as well: her brother, 12, did not have it; her sister, 16, did. When her parents broke the news to their older daughter, she put her head down and cried.

Treatment
Every two weeks, both girls get an intravenous infusion of a synthetic version of the enzyme they need. This medication may be able to slow and occasionally reverse some of the devastating consequences of this disease. In the girls’ cases, the results have been promising. Although neither thought of herself as weak, both were. The younger daughter, who was never able to do a sit-up, can now do three. The older daughter bragged to me that she could now pick up a gallon of milk with one hand.

Sarah of Washington wrote: “I’m really confused by the fact that these young women didn’t realize they were weak even though one couldn’t do more than one sit-up and the other couldn’t lift a gallon of milk.” Many readers felt equally bewildered. But Anon from New York wrote about the perceptions of those with chronic diseases: “When you live with your own ‘normal’ (which may be wholly abnormal), you take for granted everyone else feels that way, too. . . . If it is all you have ever known, you can see why it would be something a patient might not mention.” For the parents, it would have taken an enormous leap to imagine that their seemingly healthy daughters could have something seriously wrong with them. Often, what we see in our children defines our understanding of normal. This family, like many who live with chronic diseases, have come to understand that there are at least two kinds of normal — one for them and one for everyone else.

Abortion Opponents Use Health Law to Put Restrictions in Private Insurance

Posted: 08 Apr 2011 11:20 PM PDT

WASHINGTON — As more states begin setting up health care exchanges for individuals to buy insurance under the new health care law, abortion opponents are using the opportunity to try to restrict abortion coverage in private insurance plans.

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Most Americans with employer-based health insurance currently have coverage for abortion, according to the Guttmacher Institute, an organization that researches reproductive health and rights — a fact that few people seemed to know until the health care debate last year.

It even eluded employers. In a 2010 survey of employers, the Kaiser Family Foundation found that 71 percent of employers who were interviewed did not know whether the main health insurance plan they offered covered elective abortions.

Now the coverage is getting increased scrutiny as states start to build their own systems under the new law, and a growing number of states are passing bans.

On Wednesday, Virginia became the eighth state to pass a ban on abortion coverage for any private plan that would take part in an exchange, joining Utah, Idaho, Arizona, Louisiana, Mississippi, Missouri and Tennessee.

Nancy Northup, president of the Center for Reproductive Rights, which follows reproductive legal issues, said a total of 28 states were considering or had already passed such laws or similar ones.

That includes five states — Oklahoma, North Dakota, Idaho, Kentucky and Missouri — that already had outright abortion bans on private insurance plans before the exchanges.

Once running, the exchanges are expected to provide coverage for an estimated 28 million Americans, according to the Congressional Budget Office.

The exchanges are for people who do not have access to large group insurance plans through an employer, including people working for themselves or in small businesses, or those with low incomes.

Supporters of the restriction say that it was spelled out as an option in President Obama’s law, and that carrying it out it is simply exercising that option.

“It’s taking advantage of what was clearly written into law,” said Victoria Cobb, president of the Family Foundation of Virginia.

They also point out that most people covered through the exchanges, at least at first, will be those with low and medium incomes, a group that is subsidized and therefore already subject to restrictions under the 1976 Hyde Amendment, which limits federal financing for abortion.

But with various restrictions and rules, abortion rights advocates say that insurance companies may conclude that covering abortion is simply too much trouble.

“Every additional restriction is adding to the probability that insurance companies will throw up their hands and say, ‘This isn’t worth our time anymore,’ ” said Adam Sonfield, a public policy expert at the Guttmacher Institute.

Mr. Sonfield added that supporters of abortion rights are concerned that if enough states ban coverage for abortions, such policies will become perceived as the norm, rather than the exception.

Something similar occurred with coverage of contraception, he noted, though the shift occurred in a different direction: such coverage eventually became the standard after it was mandated by many states.

“At what point do you hit a tipping point?” he said.

Abortion opponents are having success in pressing their case through new Republican-controlled legislatures across the country.

The Center for Reproductive Rights is tracking about 600 pieces of legislation, up from 500 last year, Ms. Northup said. Bills intended to roll back abortion rights are passing with much greater frequency, she said, with 35 passing last year, up from about a dozen in the 1990s.

“We are facing an avalanche of anti-choice bills at the state level,” Ms. Northup said. “It’s a whole new level of difficulty.”

The central argument of supporters of the ban is that the exchanges will involve tax dollars, and use of those dollars for abortion is strictly prohibited under the compromise version of Mr. Obama’s bill, and in the executive order he signed to get it passed.

Eventually, people not eligible for subsidies, including small-business employees with higher incomes, will be able to buy plans through the exchanges, too. They will be subject to the same ban — something that John Watkins, a Republican state senator in Virginia who ultimately voted for the ban, expressed deep reservations about.

Such cases involve “private dollars, they are not tax dollars,” Mr. Watkins said during debate on Wednesday, adding that the governor should “make sure that is addressed” before an exchange is established, probably in 2014.

Taylor Thornley, a spokeswoman for Gov. Bob McDonnell of Virginia, a Republican, said the portion of nonsubsidized people would be small, and contended that all people buying through the exchange should be subject to the ban because the exchange itself was set up by taxpayer dollars.

Abortion rights advocates say that argument is a stretch.

“The idea is that because the government itself is helping set up the exchanges, that’s reason enough for the ban,” Mr. Sonfield said. “It’s like saying that everything I purchased on Amazon is somehow government subsidized, if the government helped set up the Internet.”

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