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

The vast majority of people with an inherited blood condition which could be potentially fatal are not being diagnosed, a charity has warned.

Familial hypercholesterolaemia (FH) causes abnormally high levels of cholesterol in a person's blood increasing the risk of a heart attack at a young age.

Around one in every 250 people in the UK has FH, the British Heart Foundation (BHF) said.

What are the signs and symptoms to look out for?

According to the BHF, some of the signs to look out for include:

  • Lumps and bumps around your knuckles

  • Achilles tendon (caused by cholesterol deposits)

  • Yellow cholesterol build-up around the eyes and eyelids or a pale ring around the iris of your eye

However, some people may not show any signs and some may be indicative of other conditions.

The National Institute for Health and Care Excellence recommends that adults with a total cholesterol level of above 7.5mmol/l before treatment should be assessed for FH.

If caught early, patients can be treated with statins, which can bring their life expectancy back to that of someone without the condition.

In addition to taking medication, lifestyle and diet changes can also help lower cholesterol in patients with FH.

Health officials recommend genetic testing for immediate family members of those affected as each child of a parent who has FH has a 50% chance of inheriting the condition.

Statins have been shown to lower cholesterol levels. Credit: ITV News

But the BHF has said access to testing services across the UK "are patchy".

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.

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