FP Report -- July 1999
Special Section
'Who better than their family physician to hold their hand and walk them down that scary road?'
Family physician Mark Lavallee, M.D., of South Bend, Ind., knows what it's like to counsel and support patients with a genetic disorder. He sees many patients with Ehlers-Danlos syndrome because the Ehlers-Danlos National Foundation refers patients to him.
In EDS, the body's collagen doesn't mesh together normally because of errors in metabolism. Since the collagen doesn't stick together tightly, EDS patients have joint laxity and very thin skin. Those with the most serious form of EDS die from aortic aneurysms between 30 and 40 years of age. Others have a normal lifespan but increased morbidity. The condition has been around for quite some time. The famous "rubber men of India," who travelled in circuses throughout Europe and Asia and could "bend interestingly," probably had EDS, Lavallee said.
Lavallee did a college EDS research project. In med school, he worked with researchers on familial aortic aneurysms who found the responsible genetic defect on the long arm of chromosome 2. The gene for EDS is nearby. They also developed a diagnostic genetic test for the aneurysm-linked form of EDS.
Like many genetic tests, it's a two-edged sword. "If a 35-year-old lady with EDS is worried about whether she has the kind that's linked with aortic aneurysm and whether her three kids have it, too, there are options," Lavallee said. "It's possible to wait and get echocardiograms each year -- or to take a skin punch biopsy from all four and send them to a lab that performs the EDS test. The test costs several hundred dollars, and many insurance plans won't cover the cost.
"If they're lucky and the tests show no one has the more life-threatening form, then they feel relieved and save money on echocardiograms. But if one tests positive for that form, that person has a life of worry and echocardiograms each year."
Physicians in the past have been very paternalistic about thinking they know what is best for the patient, said Lavallee. "I tell patients, 'Do you really want to know this? How much do you want to know?' Because for some people, ignorance is bliss. With information comes the good and the bad, so give them the option."
Lavallee is co-director of the South Bend Primary Care Sports Medicine Fellowship and is on the faculty of the Memorial Family Practice Residency in one of South Bend's two community hospitals. His hospital has its own geneticist and genetic counselor on staff. "They're fantastic to work with," he said. "They get involved with each case, and they refer patients to me."
But he said he brings a broader scope to the situation than a genetic counselor would because he's an FP and has done both the bench work and clinical practice. "I think of issues that a counselor often won't, such as life and disability insurance concerns," he said. "I tell patients to get their house in order first and then get the test if they want it."
"I tell patients, 'Do you really want to know this? How much do you want to know?' Because for some people, ignorance is bliss."
Lavallee also is very involved in sports medicine and finds his interest area overlap. "I recently did 400 high school physicals and picked up two cases of EDS," he said. Some athletes in sports requiring flexibility, such as wrestling and gymnastics, may have a slight form of EDS, especially those with instability of multiple joints.
"I also prescribe exercise for people with genetic problems, encourage them to find a sport they can do because it helps with depression, cardiac capacity and other benefits," he said. "And some of the physical and occupational therapies I use for athletes can help EDS patients."
His advice for other FPs? "Be compassionate, be open-minded," he said. "With genetic conditions, symptoms are the oddities that don't fit the mold of everything we've been taught.
"For EDS the average age of diagnosis is 24, so there often are four to five misdiagnoses first. Patients may have been told they're faking it, or they have fibromyalgia, so they tend to question physicians. Handle them with kid gloves."
And really listen, he said. "You need to hear the hurt, pain and confusion they may have, answer their questions and know where to refer them for testing. And when test results come back, support them because they may have gotten news they weren't really ready for. Who better than their family physician to hold their hand and walk them down that scary road?"
FP Report is published by the AAFP News Department. Copyright © 1999 by American Academy of Family Physicians.
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