She was a 32-year-old aerobics instructor from a Dallas suburb — healthy, college-educated, with two young children. Nothing out of the ordinary, except one thing.
Her cholesterol was astoundingly low. Her low-density lipoprotein, or LDL, the form that promotes heart disease, was 14 — unheard-of in healthy adults whose normal level is over 100.
The reason was a rare gene mutation she had inherited from her mother and her father. Only one other person, a young, healthy Zimbabwean woman whose LDL cholesterol was 15, has been found with the same double dose of the mutation.
The discovery of the mutation and of the two women with their dazzlingly low LDL levels has set off one of the greatest medical chases ever. It is a fevered race among three pharmaceutical companies — Amgen, Pfizer and Sanofi — to test and win approval for a drug that mimics the effects of the mutation, drives LDL levels to new lows and prevents heart attacks. All three companies have drugs in clinical trials and report that their results, so far, are exciting.
"This is our top priority," said Dr. Andrew Plump, the head of translational medicine at Sanofi. "Nothing else we are doing has the same public health impact."
Dr. Gary Gibbons, director of the National Heart, Lung, and Blood Institute, estimates that even if the drugs were expensive and injected, as many as 2 million Americans might be candidates. But if they could eventually be made affordable and in pill form — two very big ifs — they might be used by one in four adults, he said.
Despite major gains over the past half-century, heart disease remains the leading killer of Americans, causing nearly 600,000 deaths a year. Statins, the cholesterol-lowering drugs that went on the market in 1987, were a huge breakthrough but far from a panacea.
So far, people with high cholesterol levels who are taking the drugs in studies have seen their LDL levels plunging from levels well over 100 to 50, 40 or lower. Like insulin for diabetes, the drugs are injected, but they are taken once or twice a month.