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, 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.
It’s encouraging that Scotland has begun tackling FH, and we welcome the Scottish Government’s investment in diagnostic labs for genetic conditions.
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.
James Cant is Scotland Director of the British Heart Foundation