Cardiology

Saving lives through screening families: It’s only just beginning





The British Heart Foundation has recently diagnosed its 3,000th person living with familial hypercholesterolaemia, potentially saving thousands of lives. Although this is a significant milestone, it is only the tip of the iceberg.

There’s an old Chinese proverb that says: “A journey of a thousand miles begins with a single step”.

Over the past few years, the British Heart Foundation (BHF) has helped to diagnose 3,000 more people with the inherited condition familial hypercholesterolaemia (FH) through the BHF-funded FH cascade testing programme.

And while we may be more than a single step on our journey in identifying people and their families with FH, we must not rest on our laurels.

FH is a relatively common condition, affecting around one person in every 250 and is usually easily managed once diagnosed. We are, however, faced with a long road ahead of us if we are to find the many people with the condition who are unaware that they have it.

FH is an inherited condition that leaves that a person with exceptionally high levels of bad cholesterol in the blood stream. For people who have FH, there is a 50% chance with each pregnancy that they will pass down the faulty gene.

The cascade testing process is an effective method of identifying other family members that may carry the faulty gene once one family member has been identified. Once the first family member has been identified, the close relatives of that individual will also be offered testing for the same condition.

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If you do have FH, then you have a greater risk of developing coronary heart disease at an early age if it is left untreated, as over time fatty material builds up in your coronary arteries.

Worryingly, FH is often considered a hidden killer as the majority of people that have the condition are undiagnosed, increasing their risk of having a potentially fatal heart attack.

Perhaps even more concerning is the fact that of the estimated 260,000 people in the UK with FH, as few as 6–7% have been diagnosed with the condition.

Without the appropriate treatment, half of men with FH could develop coronary heart disease (which can cause a heart attack) by the age of 50, and a third of all women with undetected or untreated FH will have a heart attack by the age of 60. To address this problem, the BHF invested around £1.5 million to fund 27 nurses across 12 sites in England and Scotland to help diagnose more people through cascade testing services.

Since the programme began in 2014, we have diagnosed 3,000 additional patients with FH.

Lead by example

The importance of cascade testing for FH was highlighted in the BHF’s five-point plan for the NHS, which stressed the need better identification of the ‘hidden killers’ of inherited heart conditions.

This will be achieved not only through wide-scale implantation of genetic cascade testing of families, but also through an investment in technology to help identify these life threatening inherited heart conditions that all too often fly under the radar.

Already, the NHS has committed to improving access to genetic testing for FH and has set an ambition to diagnose at least 25% of people with FH within the next five years.

The fact that we have diagnosed 3,000 more people with FH through our cascade screening is testament to the success and effectiveness of such testing. It is now crucial that such an approach is rolled out more widely across the country.

Working and sharing information with the likes of NHS England and Public Health England means that we can help to guarantee a full and successful roll out of genetic testing. We can keep FH high up on the agenda of priorities, ensuring that real inroads into effective cascade testing will be made.

Although diagnosing the 3,000th additional person is a step in the right direction, there are still thousands of people across the UK who unknowingly have this condition. If left undiagnosed, FH could have devastating consequences on them and their loved ones.

How we funded research that discovered the faulty gene

The faulty genes responsible for FH were first discovered by BHF-funded researcher, Professor Steve Humphries.

As a result of his pioneering research, a blood test was developed that shows whether someone has a fault in one of three key genes.

While there is currently no cure for FH, it can be treated through cholesterol lowering medications, such as statins. The sooner it is diagnosed and treated, the less chance the patient will have a potentially deadly heart attack.

What impact does high cholesterol have on my heart?

Cholesterol is a fatty substance which is produced naturally in our liver and carried in our blood.

There are two main types of cholesterol — HDL cholesterol, also known as ‘good cholesterol’, and LDL cholesterol, which is also known as ‘bad cholesterol’. As the name suggests, bad cholesterol can cause us problems.

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FH causes a build-up of bad cholesterol in our bodies that can lead to heart attacks at an early age, sometimes as young as 30. The BHF is committed to continue funding into life saving research that can provide a lifeline to so many people.

If you liked this, you might also like:

And follow the BHF Publication on Medium to keep up-to-date with our live saving research.


Saving lives through screening families: It’s only just beginning was originally published in British Heart Foundation on Medium, where people are continuing the conversation by highlighting and responding to this story.

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