A One-in-a-Million Worst Case

A six-year-old girl named Stormie Jones made medical history on Valentine's Day by becoming the world's first person to receive simultaneous heart and liver transplants. But to doctors, Stormie is more than a medical milestone; she is an example of the worst that can happen when cholesterol levels go wildly out of control.

Less than a year ago, Stormie appeared to be a normal, active child. "Just an awful sweet little old girl," according to Joe Lunsford, her neighbor in Cumby, Texas (pop. 647). There was just one indication that something might be wrong: mysterious wartlike bumps covered her elbows, knuckles, knees and toes. Though her mother Lois Sue, a waitress in Cumby, had first noticed the small bumps on her daughter's buttocks when Stormie was three months old, it was not until last summer that she found a doctor who would take them seriously. Dr. David Bilheimer, medical director at Parkland Memorial Hospital in Dallas, took one look and, he says, "I suspected what we had right away."

The 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 on her blood vessels, as the doctor learned when he held a stethoscope to her neck and legs. There, instead of silence, he heard the ominous, whooshing sound of blood struggling to get through blocked arteries.

There are few effective treatments for severe FH, Stormie's doctors had just decided to try an experimental combination of cholesterol-lowering drugs, when her condition suddenly deteriorated. On Oct. 12, she suffered a heart attack. Six days later she again was gripped by severe chest pains, "It was a horrible thing to see a small child in such agony," says Bilheimer. At that point, explains Internist Scott Grundy, lowering Stormie's cholesterol level ceased to be the primary concern: "The issue was whether she was going to live, or die from heart disease."

When two bypass operations failed to help the ailing child, doctors decided on a radical, last-ditch effort to save her life: a liver transplant. The cells of the liver are specially equipped to remove harmful LDL cholesterol from the blood, but because of her genetic defect this mechanism was not working in Stormie's liver. The hope was that a new organ would cleanse LDL cholesterol from her blood and perhaps even reverse the buildup in her arteries. There was one hitch, however. Says Pediatric Surgeon Basil Zittelli of Children's Hospital in Pittsburgh, where the transplant was performed: "We thought that her heart, in its present condition, could not withstand the stress of a liver transplant." And so doctors decided to give Stormie a new heart as well.

Just two weeks after the groundbreaking, 15-hour operation, Stormie was watching television, eating pizza and, as she tearfully indicated at a press conference earlier this month, longing to go home to her sister in Texas. Last week she was released from the hospital, but must remain in Pittsburgh indefinitely for checkups three times a week. Doctors are encouraged by the fact that Stormie's cholesterol level is declining; they hope that the wartlike bumps will soon begin to disappear. Scientists across the country meanwhile expect to learn from her singular experience. "It was FH patients like Stormie who taught us how cholesterol is controlled in normal people," says Molecular Geneticist Michael Brown of the University of Texas. "Science very frequently advances by studying the most extreme cases."