The Philadelphia Inquirer
24, 2006 Thursday
Aneurysm cause found to be more
A disorder that weakens the aorta can be
fatal and is often misdiagnosed, researchers contend.
BYLINE: Michelle Fay Cortez, Bloomberg News
SECTION: NATIONAL; Pg. A11
LENGTH: 382 words
A genetic disorder
first described just one year ago is more widespread than thought, and
misdiagnosing it may be deadly, researchers say.
is a connective-tissue disease marked by convoluted blood vessels and a
weakened aorta that can fatally rupture, researchers said after studying
patients from 52 families. As a result, treatment should be more aggressive for
Loeys-Dietz than for similar disorders that are often mistakenly diagnosed for
important to recognize this condition and distinguish it from other
connective-tissue disorders," said Harry Dietz, director of Johns Hopkins
University School of Medicine's Center for Marfan Syndrome Research.
result in "avoidable death," he said.
Loeys-Dietz are often misdiagnosed as having Marfan's, known for causing
Abraham Lincoln-like lankiness, and the vascular disorder called Ehlers-Danlos syndrome, the researchers said.
is the only one of the three in which the aorta may rupture even when it does
not seem dangerously enlarged, Dietz said in a telephone interview yesterday.
Loeys-Dietz patients survive surgery to repair the vessel, said Dietz, who
identified the disorder with Bart L. Loeys from Hopkins' Institute for Genetic
Medicine and the Center for Medical Genetics at Ghent University Hospital in
Belgium last February.
At the time, the two
scientists knew of only 10 patients with the condition. The latest study,
published in today's New England Journal of Medicine, reviewed data on clinical
care, cardiovascular complications and the genetic makeup of 90 patients.
Since the syndrome
was identified, "we've learned that cardiovascular surgery is very safe
and therefore you should be very aggressive about going in and repairing these
aneurysms before they rupture," Dietz said. "In contrast, in people
with vascular Ehlers-Danlos syndrome,
you don't do surgery unless you believe death is imminent," he said.
More studies are
needed to pinpoint the exact number of people with the condition in the United
States and worldwide, Dietz said.
The disease leads to
aggressive arterial aneurysms, with death at an average age of 26, and
pregnancy complications in about half of women, they found.
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