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
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
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'.