Lipid Clinic Director Peter Kwiterovich is leading the way for routine screening for lipid disorders in young children to prevent cardiovascular disease, a leading cause of death in adulthood.

In a family with a history of high cholesterol, 13-year-old Keith Miller’s sky-high rate – nearly five times the norm – was simply a part of the otherwise healthy and active youngster’s inheritance. Or so it seemed “His pediatrician was focused on it,” says his mother Debbie. “But his father and I have high cholesterol and we thought you could have it and lead an otherwise healthy life.”

But for young Keith, the circulating cholesterol was taking a deadly toll. At age 15, he began complaining of fatigue and double vision on the playing field. He returned to Hopkins Children’s cardiologist Janet Scheel, who had noted a slight heart murmur and mild aortic stenosis two years before. “She told us she’d never seen either advance so rapidly,” says Debbie Miller.    

The teenager had developed significant stenosis, a narrowing above his aortic valve, a condition usually seen in older individuals with a history of heart disease. His coronary arteries were nearly completely clogged by calcium deposits. Johns Hopkins pediatric cardiac surgeon Duke Cameron led the bypass surgery to repair the high school sophomore’s aortic valve and another to clear his coronary arteries.

“We were in shock,” says his mother. “We’d attributed his shortness of breath to mild asthma. But he could have had a heart attack.”

Like his parents and sisters, Miller was diagnosed with familial hypercholesterolemia, one of several types of inherited lipid disorders, studied by clinical researchers in Hopkins Children’s Pediatric Lipid Clinic, directed by Peter Kwiterovich. Says Debbie Miller: “We didn’t realize the significance when a child inherits a gene for the disorder from both parents,” as Keith, alone among his siblings and parents, had.

Now in Kwiterovich’s care, Keith plays soccer and lacrosse with vigor, and is in good health. He takes his cholesterol-lowering medication and maintains a low-fat diet.

While many inherited lipid disorders like familial hypercholesterolemia can be diagnosed even before birth, most are undiscovered until symptoms develop in later life. “Keith’s story,” says Kwiterovich, “illustrates the critical need to screen for cholesterol earlier than the recommended baseline age of 18, to prevent or minimize the consequences of high cholesterol and genetic lipid disorders.”

At Hopkins Children’s, efforts are underway to endow a Center of Excellence to study families with lipid-related disorders, which affect one in 10 children. Says Kwiterovich: “We want to discover how to manipulate genes and completely cure cardiovascular disease.”