Word: hypercholesterolemia
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...same treatment a few months later have acceptable levels of the ADA enzyme and are leading normal, healthy lives, needing only to return every six months for repeat treatments. This study, and one conducted by the University of Michigan's Dr. James Wilson on a woman with familial hypercholesterolemia, represent the only gene-therapy treatments to date with beneficial results. But Anderson expects more success from other projects getting under...
...benefits to a person of knowing he or she has hypercholesterolemia, a hereditary inability to remove cholesterol from the body, for instance, will far outweigh the chances that it will hurt his or her jobs opportunities if an employer finds out, he says...
...been tried at only a handful of medical centers around the world and only on the most desperately ill patients. Stoffel, together with Dr. Helmut Borberg at the University of Cologne, is treating ten people, most of them with the same condition as Lewis', known to doctors as familial hypercholesterolemia, or FH. In Moscow, eminent Soviet Cardiologist Yevgeni Chazov is treating another ten FH patients, working closely with the Rogosin Institute in an unusual Soviet-American collaboration. Both overseas groups report that their patients' angina has decreased and that they perform better on stress tests...
Brown and Goldstein began their pioneering work while investigating severe familial hypercholesterolemia, a rare inherited disorder. Children with the disease have blood-cholesterol levels six to ten times normal and can suffer heart attacks as early as age two. By comparing skin cells from victims with those of healthy people, the two scientists traced the problem to an absence or deficiency of LDL receptors, proteins that stud the outer membranes of most cells, particularly those of the liver. Then they decoded the complex minuet that takes place between the receptor and its LDL particle. Says Baltimore: "That was important...
...bumps were tiny deposits of almost pure cholesterol that had accumulated under the child's skin. They are a classic sign of severe familial hypercholesterolemia (FH), a genetic defect that leads to a tremendous buildup of cholesterol in the blood. One out of every 500 Americans suffers from a moderate form of this disorder, but Stormie was among the one in a million whose genetic makeup produces an extreme variety. Bilheimer was shocked to find that the child's cholesterol was at nearly nine times the normal level for someone her age. It had already taken a toll...