HEART UK, the Cholesterol Charity, is calling for the Scottish Government to introduce early screening for Familial Hypercholesterolaemia (FH) which can trigger coronary heart disease, especially dangerous to young people who suffer from the genetic condition.
People with FH are prone to suffer from high levels of cholesterol which, if untreated, can lead to coronary heart disease and a range of other vascular illnesses. It is estimated that approximately 10,000 people in Scotland (over 100,000 in the UK) are affected by the condition.
Following a pilot programme coordinated by the Scottish Lipid Forum, Heart UK claims that by identifying this at an early stage and taking long term steps to manage FH, young people in families with a history of cardiovascular disease can dramatically reduce the chances of it affecting them in later life. While screening for the condition is now available - the University of Aberdeen's department of Medical Genetics performs the FH gene testing for all Scotland - HEART UK claims the uptake has been poor and is urging the Scottish Government to proactively promote testing in high risk individuals.
Working with the University of Aberdeen, the pilot programme showed that through early screening many people with FH can avoid serious heart disease and live fuller, more productive lives. The study also produced figures which suggested that early intervention and long term management of FH could ultimately reduce NHS expenditure in Scotland by around £7m a year.
University of Aberdeen Chemical Pathologist William Simpson, who chaired the Lipid Forum, said: “The results of our pilot show that early screening for FH has a significant moral, social and even economic benefit to the nation. Heart disease is devastating, especially to young people who would not normally expect to be at risk. Even if they survive a heart attack, they can be left unable to work and incapacitated for the rest of their lives. Early intervention could help prevent heart disease taking hold and ensure they are able to live productive lives and make a contribution to their community. By identifying this at a young age and taking long term steps to manage it, we can also save money which can be deployed elsewhere in the NHS, although £7m is a very crude estimate – the real cost is likely to be a great deal higher.
“Our political leaders had the foresight to endorse central funding of the genetic testing, and we are justifiably proud of our achievements in a short space of time, particularly compared with our neighbours in England, but we are still not seeing the majority of people with FH. Sadly, we know that for some, it will not become apparent until it is too late. We need to keep investing in FH; both to identify more people with the gene, and to create an infrastructure for ensuring that they can receive the appropriate treatment, wherever they are in Scotland”
Jules Payne, Chief Executive of HEART UK said: “The programme we have carried out with Dr Simpson shows the clear health and economic benefits of DNA cascade screening. By finding one case of FH, we can often identify several relatives who also have the condition. With effective treatment, we can then stop people dying prematurely. HEART UK is delighted that the Scottish Government has made a commitment to FH testing in families. However, there’s still a long way to go before the 10,000 Scots with FH have been identified. So we cannot afford to rest on our laurels. HEART UK would like to see an ongoing commitment to DNA cascade testing in Scotland, with funding and resources designated for its continuing rollout.”
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