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People with a condition known as familial hypercholesterolemia (FH) have genetic mutations that cause abnormally high cholesterol levels, which leaves them vulnerable to heart attacks and strokes at an early age. But many of them aren't getting appropriate cholesterol-lowering therapy, according to a report in the Dec. 23, 2016, issue of the journal Science.
For the study, researchers merged genetic testing data with information from electronic medical records from more than 50,000 people. As earlier studies have shown, about one in 250 people had FH. But only 58% of the people with the disorder had a current prescription for a cholesterol-lowering statin drug. And of those statin-treated people with FH, just 46% were meeting the recommended goal of an LDL (bad) cholesterol level of 100 milligrams per deciliter (mg/dL) or lower.
Because FH isn't common and the genetic test is so costly, routine screening among the general public doesn't make sense. But that could change as the cost of genetic testing drops in the future. For now, doctors may consider FH testing in select circumstances, especially in families with a history of very high LDL cholesterol (190 mg/dL or higher) and heart attacks that occur before age 50.
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