Study Casts Doubt On Value Of Genetic Testing For Familial Hypercholesterolemia

published Thu, Feb 21 2013 17:30 GMT
The recent introduction of two drugs (lomitapide from Aegerion and mipomersen from Isis and Sanofi) specifically targeted to treat people with the rare but dangerous condition of homozygous familial hypercholesterolemia (FH) has caused increased interest in figuring out the best strategy to identify people with the disorder. Now a new study published online in the Lancet suggests that one of the main screening plans that relies on genetic tests will fail to identify a substantial portion of FH patients, both homozygous (approximately one in a million people) and heterozygous (approximately one in 500 people).

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