One in 500 people carries a defective gene linked to extremely high blood cholesterol levels and early death from heart disease, and researchers are trying to track them down.
"If we were to identify an individual as a child or young adult and treat them effectively, keep their cholesterol levels normal, you'd probably add at least 10 or 15 or 20 years to their life . . . and in many cases it could result in normal life expectancy," Roger R. Williams told the American Heart Association's 21st Science Writers Forum recently.
Williams, a professor of internal medicine at the University of Utah School of Medicine, is coordinating an effort funded with $90,000 from the Centers for Disease Control and Prevention and $150,000 from a pharmaceutical company to find families with familial hypercholesterolemia.
Untreated, the disorder can cause cholesterol levels of 350-450-more than double normal levels-and lead to death by age 45 in men and 55-60 in women. Drug treatment costs $500 to $3,000 a year.
"In the general population, unfortunately, the diagnosis is often missed. In families, once you know a family has this disorder, making a diagnosis is easy. A simple cholesterol test that can be done by a finger stick can help determine those who are affected and those who are not," Williams said.
Williams and researchers in five other cities-Boston, Cambridge, Mass., Cincinnati, Portland, Ore., and San Francisco-and nine other countries are hunting for those families. In Utah, two people sending questionnaires and making phone calls over four years to relatives of 50 people diagnosed with hypercholesterolemia identified 750 family members with the disorder.
In a study of 502 of them, only 31 percent knew they had the disorder.