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Up to 85% of people with potentially fatal condition not diagnosed

22 February 2017 08:02

Around 50% of men and 30% of women with untreated FH will develop coronary heart disease by the time they're 55

Around 50% of men and 30% of women with untreated FH will develop coronary heart disease by the time they're 55

Hundreds of thousands of people with a potentially fatal genetic blood condition have yet to be diagnosed with the condition, a charity is warning.

According to the British Heart Foundation (BHF), there are around 250,000 people suffering from familial hypercholesterolaemia (FH). But there could be around 212,500 (85%) undiagnosed.

Catherine Kelly, director for prevention, survival and support for the BHF, said: "Our research has meant that we are now able to diagnose people with FH and prevent them from a potentially sudden and unexpected death at a young age.

"The majority of people remain undiagnosed and despite cascade testing proving to be a highly cost-effective and efficient way of saving lives, services across the UK are patchy."

What is FH?

The genetic disorder affects sufferers from birth and sees abnormally high levels of cholesterol in a person's blood. It is caused by a defect on chromosome 19, which means the body is unable to break down bad cholesterol - known as low-density lipoprotein (LDL).

Having the condition increases sufferers' chances of being struck down with cardiovascular episodes, such as heart attacks or strokes at a young age.

According to the BHF, if the condition is untreated around 50% of men and 30% of women with FH will develop coronary heart disease by the time they're 55.

Children have a 50% chance of inheriting the condition if it is present in a parent.

Anyone suffering from a pre-existing blood disorder can take out medical travel insurance to protect against unexpected medical expenses while abroad.

Early detection is key

Statins - medication used to lower blood cholesterol - can help to bring life expectancy of those with FH down to a typical level.

But to treat the condition, people need to be diagnosed. The BHF says that's with it is important for people to get tested, particularly if FH is known to be present in the family tree.

However, the charity says access to the test is a postcode lottery across the UK.

Ms Kelly added: "If we are to avoid sudden and unexpected deaths from FH, we need to ensure that everyone at risk has access to these tests."

Robert Sherriff, national operations lead at Public Health England Screening, said: "The latest review in March 2016 on FH in children by the independent expert National Screening Committee did not recommend a screening programme for this condition.

"The committee routinely reviews all of its recommendations every three years and this latest review found uncertainty about how well a programme would work in practice and no clear evidence on whether screening children would reduce illness or death for this condition."