Blood Test Identifies Children with High LDL-Cholesterol

A simple blood test early in life could identify children with familial hypercholesterolemia.

No elaborate genetic test is needed, just a blood reading to find which children have abnormally high levels of low density lipoprotein (LDL) cholesterol--the "bad” kind associated with blockage of arteries.

An analysis of 13 studies that included 1,907 people with the condition showed that screening was most effective when done early in childhood, said Dr. David Wald, a consultant cardiologist and senior lecturer at the Wolfson Institute of Preventive Medicine (London, UK). Screening newborns or young adults was much less effective. The findings appeared online in the September 15, 2007, issue of the British Medical Journal.

"The work we [have] done establishes the age at which screening performance is optimized, Dr. Wald said. He and his colleagues are planning a limited implementation study that is necessary to establish feasibility,” he said. "Our study shows that a test would identify 88% of cases of familial hypercholesterolemia, with only one in 1,000 misidentified.” The proposal is to include a cholesterol test at about 15 months of age, as part of a child's normal health-care routine.

The more common form of the condition, caused by a single gene, is estimated to occur in one of every 500 people in Great Britain and the United States. There are rare, much more severe cases of the disorder in which someone carries two faulty genes. "It is the most important known and reversible cause of premature heart attack,” Dr. Wald commented. "It carries a 20- to 39-fold higher risk of dying of a heart attack before age 50.”

The test proposed in the report would look for a blood LDL cholesterol level 1.5 times higher than the average for a child in the population being tested. "The first thing we would do then would be to test the parents,” Dr. Wald said. One of them would have to be affected, because it is a genetic condition. We could offer the parents immediate treatment.”

A study reported last month by cardiologists at the University of Amsterdam (The Netherlands) found that early long-term statin therapy prevented artery damage in children with familial hypercholesterolemia. The study included 214 children who were treated with statins for an average of 4.5 years.

The study participants ranged from 8-18 years old. The report described the results as "supporting the concept that statin treatment should be initiated in childhood.” The study found "no adverse effects on sexual maturation or growth,” the investigators added.


Related Links:
Wolfson Institute of Preventive Medicine
University of Amsterdam