Gene puts thousands at risk of early heart attack death
Charity wants better screening for defect more common than diabetes
ONE in every 250 people in Scotland carries a gene for a potentially deadly cholesterol disorder which, if undiagnosed, puts them at risk of dying from a heart attack at an early age, a charity has warned.
The British Heart Foundation is calling for improved screening to pinpoint those affected by the inherited condition, known as familial hypercholesterolaemia (FH), after new estimates indicated the genetic defect is more common in Scottish children than type one diabetes and is likely to affect around 21,000 people in Scotland.
FH causes abnormally high levels of cholesterol in a person’s blood, meaning that otherwise healthy individuals are at a much greater risk of having a heart attack at a young age.
Without treatment, people with FH can die prematurely in their 20s, 30s or 40s. Each child of a parent who has FH has a 50 per cent chance of inheriting the condition.
Early treatment with statins can bring a carrier’s life expectancy back to that of someone without the condition. However, the BHF warns that people are needlessly dying because most people are not diagnosed and treated for the condition, despite one of the faulty genes responsible for the majority of FH cases first being discovered 30 years ago.
While official guidance recommends routine genetic testing for at-risk families and pilot projects show these so-called “cascade genetic testing services” are highly cost effective, access to the test is a postcode lottery across the UK.
Wales offers a nationwide detection service, and funding from the BHF has led to FH testing schemes in the Western Isles and Grampian. The programmes have identified more than 2,000 people with the condition to date, but it is estimated that wider use could save the NHS around £3 million per year in avoided heart attacks, strokes and other cardiovascular events.
James Cant, BHF Scotland director, said: “Most people remain undiagnosed and despite cascade testing proving to be a highly cost effective and efficient way of saving lives, services 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.”
Katherine Robertson, 60, from Lossiemouth was diagnosed with FH last year after genetic testing revealed her family were affected by the condition.
She said: “My dad died suddenly aged 40 from a heart attack when I was young, and there was a history of early deaths on his side of the family. I’ve known for years that I had high cholesterol but I’d never heard of FH. In 2014 my sister was found to have high cholesterol and her GP referred her to the lipid clinic, from where she was referred to the genetic testing service in Aberdeen.
“My sister and I both tested positive and so did both my children. I’d been hoping so much that they didn’t have the gene, but it’s obviously better to know. With medication, we can look forward to a normal life.
“But if this service hadn’t been available in our area, we would have been another family that slipped through the net.”