Treatment would reduce risk of genetic condition that can lead to early death
THURSDAY, Sept. 13 (HealthDay News) -- A simple blood test early in life could identify children with familial hypercholesterolemia, a genetic condition that causes high cholesterol levels and greatly increases the risk of early death from heart disease, a British study finds.
Drug treatment could eventually be started to reduce that risk. And a side benefit could be identification of parents unaware that they were carrying the gene for the condition, the researchers said.
No elaborate genetic test would be needed, just a blood reading to find which children have abnormally high levels of LDL cholesterol -- the "bad" kind associated with blockage of arteries, said Dr. David Wald, lead author of the report.
The findings are published online Sept. 15 in the British Medical Journal.
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 Wald, a consultant cardiologist and senior lecturer at the Wolfson Institute of Preventive Medicine in London.
"The work we've done establishes the age at which screening performance is optimized," Wald said. He and his colleagues are planning "a limited implementation study that is necessary to establish feasibility," he said. The proposal is to include a cholesterol test at about 15 months of age, as part of a child's normal health-care routine.
Screening newborns or young adults was much less effective, the report said.
"Our study shows that a test would identify 88 percent of cases of familial hypercholesterolemia, with only one in 1,000 misidentified," Wald said.
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 th
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