Many people with inherited high cholesterol remain undiagnosed

Familial hypercholesterolaemia (FH) is a potentially deadly inherited condition which, if undiagnosed, can cause people to have heart attacks at an early age.

The condition is thought to affect around one in every 250 people and is more common than Type 1 diabetes in children. But according to the British Heart Foundation (BHF), the majority of people with FH aren’t diagnosed and treated for it.

FH causes abnormally high levels of cholesterol in your blood, and even if you’re otherwise healthy, your risk of having a heart attack at a young age is much greater than normal. Without treatment, people with FH can die prematurely in their 20s, 30s or 40s. And if you’re a parent with FH, your children have a 50 percent chance of inheriting the condition too.

Life-saving research

Thirty years of BHF research has led to the discovery of one of the faulty genes responsible for the majority of FH cases. Immediate family members of those affected are recommended to have cascade genetic testing, which has already identified more than 2,000 people with FH to date. But access to this type of genetic testing still isn’t widespread across the country, BHF experts explain.

“We are now able to diagnose people with FH and prevent them from a potentially sudden and unexpected death at a young age,” says the BHF’s Catherine Kelly. “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.

“If we are to avoid sudden and unexpected deaths from FH, we need to ensure that everyone at risk has access to these tests.”

Coming to terms with FH

Thirty-nine-year-old Joanne Tidmarsh has FH and has been taking cholesterol-lowering drugs from the age of three. Joanne’s father, Christopher, had a heart attack at just 30 years old and her son, Alfie, 5, also has the condition.

“Growing up was hard – knowing your dad had a heart attack at such a young age and thinking ‘that could happen to me’,” says Joanne.

“I never really understood the condition until I was in my 20s. It’s difficult coming to terms with the fact that, despite being fit and healthy, you have this condition which means you’re at increased risk of having a heart attack. When I found out that I’d passed the condition on to my son Alfie, my heart sank.

“However we’re lucky that with medication, we can lead a relatively normal life, unlike many people who are undiagnosed and don’t know they’re at risk. That’s why it’s so important that people are detected early and can manage their condition, before it’s too late.”

The BHF recommends that everyone should talk to their families to see if they have a family history of high cholesterol or heart conditions. If you think you or a close family member has FH, contact your GP and ask to be referred to a lipid clinic or FH service. You can also contact the BHF’s Genetic Information Service on 0300 456 8383 for details of where FH services are and how you can contact them.

Even if you don’t have inherited high cholesterol, it’s a good idea to keep a check on your cholesterol levels, especially if you’re aged 40 or older. If you haven’t already done so, ask your GP about having a NHS Health Check, which includes a cholesterol test. You can also have your cholesterol checked at many Careway pharmacies – often without an appointment. Find your nearest participating Careway pharmacy by using our Pharmacy Finder.