Approximately one in every 250 people in the UK has familial hypercholesterolaemia, a potentially deadly inherited heart condition.
Figures from the British Heart Foundation suggest that the condition affects around 250,000 people and is more common than type one diabetes in children, which affects around one in 500 children. If undiagnosed, the condition can cause people to die from a heart attack at an early age.
‘Our research has meant that we are now able to diagnose people with familial hypercholesterolaemia and prevent them from a potentially sudden and unexpected death at a young age,’ said Catherine Kelly, the British Heart Foundation’s director for prevention, survival and support.
Familial hypercholesterolaemia causes 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 the condition can die in their 20s, 30s or 40s. Each child of a parent who has hypercholesterolaemia has a 50% chance of inheriting the condition.
‘However the majority of people remain undiagnosed and despite cascade testing proving to be a highly cost effective and efficient way of saving lives, services across the UK are patchy,’ added Ms Kelly.