Familial hypercholesterolaemia: your questions answered
We answer your questions about this common condition.
What is FH?
FH is a genetic condition that causes high cholesterol levels from birth. About one in 250 people in the UK have FH, putting them at risk of developing coronary heart disease at a younger age.
If a parent has FH, each of their children has a one in two chance of inheriting it. It cannot skip generations – you can’t pass on a gene if you don’t have it yourself.
How is FH diagnosed?
The initial diagnosis of FH is based on personal and family history, a physical examination and a blood test.
A genetic test may also be done to confirm the diagnosis and to find the gene alteration that has caused FH, or to find out if you have the same gene alteration that has been identified in other members of your family.
In some families, it is not possible to identify the gene that is causing it.
How is FH treated?
Treatment for FH is focused on lowering the risk of developing coronary heart disease by taking statins, which both lower the cholesterol level and save lives. It is also essential that lifestyle factors, such as smoking, diet and physical activity, are addressed.
Read our feature on living with FH
Five minutes with Peter Weissberg, former Medical Director of the BHF
Why is the BHF focusing on FH?
A high blood cholesterol level is one of the major risk factors for coronary heart disease (CHD) and stroke. If left untreated, people with FH are at high risk of having a heart attack or stroke at a younger age, so it’s an important area for the BHF and those who support us.
We funded BHF Professor Steve Humphries to hunt down the genes responsible for causing FH and develop a genetic test to screen people for the condition. In 2003, the Department of Health asked Professor Humphries to pilot his genetic testing service for FH. However, FH screening was never fully implemented across the UK, so in 2010 the BHF joined the Welsh Assembly to fund a screening programme in Wales (the Welsh FH nurses are pictured above).
What have been the key successes from this programme?
We know that more than 1,200 families have been tested in Wales, of which 650 new cases have been identified and are now on treatment to reduce their risk of CHD.
There are plans to extend the BHF-funded programme across England and Scotland – can you tell us more about this?
The plan is to roll out genetic cascade testing in the rest of the UK. We have kick-started the programme with up to £1.5m of BHF funding on the understanding that, once established, it will be continued by the NHS.
How can this help us in the fight against cardiovascular disease?
Early identification and treatment of FH not only could prevent people from having a heart attack in their 30s or 40s, it could give them back a normal life expectancy. So it is crucial in our fight against heart disease.