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Genetic test for heart condition rolled out across UK

2 June 2014
Appeared in BioNews 756

A genetic test that can predict a preventable form of heart disease is being introduced into several NHS hospitals.

The test will help to identify the estimated one in 200 people who have familial hypercholesterolaemia (FH), an inherited high cholesterol condition that substantially increases the risk of a heart attack from an early age.

The FH test is a simple blood test that can detect the presence of the faulty gene responsible for the condition. The British Heart Foundation (BHF) is giving £1 million for specialist FH nurses to carry out testing in eight NHS Trusts across England and Scotland.

Steve Humphries, BHF professor of cardiovascular genetics at University College London, said: 'After so many years of carrying out the laboratory research on FH, I am delighted now to see genetic testing being rolled out nationwide'.

Undiagnosed FH leaves patients at high risk of developing cardiovascular disease and experiencing a heart attack much earlier in their lives than the rest of the population. On average, FH can shorten life expectancy by 20-30 years. Early intervention with statins, the cholesterol-lowering drugs, lifestyle changes and monitoring can reduce the risk of heart attacks, offering people with FH a normal life expectancy.

The test is being made available after a successful pilot scheme in Wales that helped to identify over 1,000 people with the FH gene. Subsequent statin treatment successfully reduced their high-risk cholesterol levels to a healthy range.

Professor Peter Weissberg, medical director of BHF, said: 'A diagnosis of FH means earlier access to observation and treatment and many more lives saved. Identifying those at risk is crucial if we’re to prevent serious heart problems'.

People diagnosed with FH carry a gene that is responsible for high levels of low-density lipoprotein (LDL), otherwise known as 'bad' cholesterol, in their blood. High LDL levels can lead to the hardening of the arteries, and when left untreated to cardiovascular disease. If a person is found to carry the FH gene, half of his siblings and half of his children on average will also carry the same faulty gene and therefore, should also be referred for testing.

The National Institute for Health and Care Excellence estimates that if half the predicted relatives of people with FH are diagnosed and treated, it could save the NHS £1.7 million a year.

Professor Humphries added: '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'.

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An audit of 122 NHS sites across the UK by the Royal College of Physicians (RCP) has found that screening for familial hypercholesterolaemia (FH) is very patchy. The report suggests that around 120,000 people have the condition in the UK, but that 85 percent are unaware they have it, which equates to about 100,000 people....
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