Scientists Discover Rare Vascular Disease02/02/11
WEDNESDAY, Feb. 2 (HealthDay News) -- Researchers report that
DNA analysis has led to the identification of a new and extremely
rare vascular disease, along with its genetic cause.
As described in the Feb. 3 issue of the
New England Journal of Medicine, the debilitating, painful and progressive disease is defined by the calcification of arteries in both the hands and feet of patients, and in the vascular network below the waist. Arteries of the heart remain unaffected.
Labeling it "ACDC," the U.S. National Institutes of Health (NIH)
research team has linked the disease's tell-tale calcium build-up
to a deficiency in a protein called CD73. And while the disorder
bears some symptoms in common with rheumatoid arthritis (such as
leg and joint pain), the study authors stress that it is a wholly
"This is the first novel disease discovery identified through the collaborative and interdisciplinary approach employed by clinical researchers in the NIH Undiagnosed Diseases Program," NIH director Dr. Francis S. Collins said in an NIH news release. "This disorder previously baffled the medical field and evaded diagnosis when conventional methods were used."
To date, ACDC has been diagnosed in exactly nine living patients
from three unrelated families, among whom the disorder has been
linked to a mutation in the so-called "NT5E" gene. Five of the
patients are siblings from a single family, and all five bore the
Over the past 100 years, seven additional cases bearing
similarities to the nine cases currently cited have been reported,
but none of those led to a clear diagnosis of the newly identified
The nine patients in the current study sought care for pain and
cramping in their calves, thighs, buttocks and feet. Calcium
build-up in arterial walls was subsequently uncovered.
Surgery to redirect blood flow to different arterial passages
was conducted in one case, along with amputation of the foot.
The researchers expressed hope that, having pinpointed the
genetic roots of the disease, they can now develop better
treatments for such patients.
For the more information on ACDC, visit the
National Human Genome Research Institute.
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