Tests for cholesterol gene start
Posted: May 28, 2014 at 5:44 am
A "life-saving" programme of tests for an inherited high cholesterol condition has been launched across the UK with 1 million of funding from the British Heart Foundation.
New tests aim to identify families whose members carry the gene for familial hypercholesterolaemia
The aim is to identify the one in 200 families whose members carry the gene for familial hypercholesterolaemia (FH), which can cut decades off a person's life.
Undiagnosed FH leaves individuals at high risk of developing heart disease and dying suddenly at a young age from a heart attack.
On average, the untreated condition shortens life expectancy by 20 to 30 years. But if spotted early, treatment with cholesterol-lowering statin drugs, lifestyle advice and careful monitoring can allow people with FH to live as long as anyone else.
FH is caused by a faulty gene that raises levels of the harmful form of cholesterol, low-density lipoprotein (LDL) from birth. At least 85% of those affected by the condition are undiagnosed.
The new scheme involves specialist nurses carrying out simple DNA blood tests to see if individuals with symptoms of high cholesterol carry the FH gene.
If the gene is discovered, other family members are then referred for "cascade" testing.
Steve Humphries, British Heart Foundation (BHF) professor of cardiovascular genetics at University College London, said: "With an estimated one in 200 hundred families carrying an FH-causing faulty gene in the UK, the introduction of cascade testing represents a huge opportunity to identify and treat people before they suffer from potentially life-threatening heart problems.
"After so many years of carrying out the laboratory research on FH, I am delighted now to see genetic testing being rolled out nationwide. But with such a high number of people remaining undiagnosed there is still more to be done if we're to get a complete picture of how FH affects the UK population."