The finding, appearing online in the journal Circulation, is the first to document a genetic mutation linked to PAD. Although the work was done in mice, researchers say it is likely to give them new insight into how PAD develops and progresses in humans.
Dr. Brian Annex, professor of medicine and director of vascular medicine at Duke, says the study stemmed directly from his clinical experience. “Over and over, I'd see two patients show up at the same time. They would be the same sex, same age, have identical risk factors and have similar blockages in their arteries. One of them would experience very slow progression of the disease, while the other would face limb loss or death within six months. I just knew there just had to be a genetic basis for it.”
Peripheral arterial disease occurs when major arteries in the legs become clogged with plaque, a fatty build-up that's similar to the deposits in coronary arteries that can lead to a heart attack. Symptoms range from leg pain brought on by walking that goes away with rest – that's the more benign form of the disease – to a more serious form, marked by continuous pain and sores and ulcers on the legs that often lead to amputation.
Annex says the mild form rarely progresses into the more severe form. “In reality, we may be looking at two types of diseases, although we've always thought of PAD as one.”