It’s a sad fact that all of us in Scotland know of families who have been devastated by heart disease. Too often, those affected are young, apparently fit men and women, struck down in their prime, many leaving families behind. In the past it’s been put down to tragic bad luck But thanks to groundbreaking research funded by the British Heart Foundation (BHF), we know that some of these cases are actually caused by a genetic condition.
What’s more, it’s one that we can easily test for and treat. Around 20,000 people in Scotland have familial hypercholesterolaemia (we’ll call it FH for short), an inherited condition that means their cholesterol levels are much higher than normal. It’s caused by a faulty gene and, despite it putting people at high risk of early heart disease, most of the estimated one in 250 people who are affected don’t even know they have it.
If FH is left untreated, about 50 per cent of men and 30 per cent of women with the condition will develop coronary heart disease by their fifties. It can cause heart attacks, often sudden and severe, and shorten life expectancy by as much as 30 years. However, a study part-funded by the BHF has offered new hope to people with FH. Researchers found that, if people are diagnosed and treated before they develop heart disease, they will generally live as long as the rest of the population. Early diagnosis can literally mean the difference between life and death. Treatment is very simple – taking a cholesterol-lowering statin. Lifestyle changes can also help reduce the risk.
The BHF has been at the forefront of research into the causes of FH. Recently I met Professor Steve Humphries, BHF Chair of Cardiovascular Genetics at University College London. Prof Humphries’ team has been studying the gene mutations responsible for the condition. If someone carries a faulty gene, and therefore has FH, there is a 50/50 chance they will pass it on to each of their children. There are three genes in which we know mutations can cause FH. Looking at those three genes in people with FH, there are mutations in about 80 per cent of cases. The UCL team are now investigating what’s happening in the other 20 per cent, which may be caused by another gene. According to Prof Humphries, if that gene is found, a drug could be developed to treat it. This is what happened in 2003, when the third FH gene was found – less than ten years later, a drug targeting the protein made by this gene was being trialled, and it seems to be effective in lowering cholesterol. While he’s pleased to see progress being made, there’s still work to be done. Prof Humphries is particularly keen to see more effort to identify families affected. That’s where the BHF is helping in other ways. To help find affected families, we invested £1.5 million UK-wide in 2014, including around £200,000 to provide FH testing in NHS Grampian, covering Grampian, Highland and Tayside, and NHS Western Isles.
Specialist nurses identify patients who may be eligible for the initial genetic testing using a blood test and, where appropriate, support the close family members – parents, children, brothers and sisters – who also need to be tested. After the initial diagnosis, other relatives are checked using a simple saliva test.
It’s encouraging that Scotland has begun tackling FH, and we welcome the Scottish Government’s investment in diagnostic labs for genetic conditions. But current BHF funding is coming to an end, and we hope that this life-saving testing will continue in these areas, and be made available in other health boards. Because we know it works. In the first year of the project in Highland, the number of patients identified with FH increased by 120 per cent. Up until June 2015, the number of known FH patients was only 24. In year one of the project, 29 new patients were identified, taking the total to 53. That’s an extra 29 people whose lives may have been saved. As well as saving lives, this investment should save the NHS money as the FH test is extremely cost effective (approximately £250 for the initial test and around £75 for a cascade test), particularly compared with the cost of treating heart attacks caused by undiagnosed FH. A diagnosis of FH may sound scary, but it’s actually to be celebrated. If you carry the gene, starting treatment makes a huge difference to your risk of developing heart disease and you are giving the gift of a longer, healthier life to your children and their children. And with more research, we can hope for even better diagnosis and treatment in the future.
l James Cant, BHF Scotland Director. For more on FH and other heart conditions, visit bhf.org.uk/conditions