Familial hypercholesterolaemia

Colourful imaging of a fatty plaque which has accumulated in an artery

250,000 people in the UK are estimated to have one of the faulty genes that cause familial hypercholesterolaemia, but many have not yet been identified. The condition often goes unnoticed until it causes a potentially fatal heart attack.

Familial hypercholesterolaemia (FH) is a genetic condition that causes dangerously high levels of harmful cholesterol in the blood from an early age. Too much 'bad' cholesterol in the blood increases the risk of cardiovascular disease, including heart attacks and strokes.

Treatment breakthroughs

Our research has made huge contributions towards the science used to detect the genes that cause high cholesterol, and the treatments we now use to control cholesterol levels.

As a result of this we now know how to minimise the dangers of FH with medication and lifestyle changes.

Gene-hunting research led by BHF Professor Steve Humphries at University College London has led to recommendations for a national screening service for families affected by FH.

Research suggests that if identified and treated early, people with FH are likely to have a normal life-expectancy.

Our work on statins

We’ve funded heart researchers who have played a vital role in helping us understand the relationship between high cholesterol and heart disease, particularly through the use of cholesterol-lowering drugs called statins.

Millions of people across the UK now benefit from cholesterol lowering statins every day.

A Scottish trial carried out in 1989 revealed that people with high cholesterol could reduce their risk of having a first-time heart attack by nearly a third by taking statins.

The Heart Protection Study

A few years later we collaborated with the Medical Research Council to fund the world’s largest trial of cholesterol-lowering medicines for people known to be at high risk of heart disease, but who had ‘normal’ cholesterol levels.

The Heart Protection Study, led by BHF Professor Sir Rory Collins, established that statins reduced the risk of a heart attack in these people by around 25 per cent. Statins are now thought to save more than 7,000 lives each year in UK. 

We continue to invest in research to help us maximise the heart-protective benefits of statin therapy, and to help us understand why some people are particularly susceptible to high levels of harmful cholesterol.

In 2008 Professor Collins' team – part of the BHF Centre of Research Excellence at Oxford University – found that people with a variation in a gene involved in processing statins are more susceptible to muscle pain, a rare side-effect of the medicines.

Their findings could evolve the way high-dose statins are prescribed and lead to more personalised treatment for high cholesterol.

Ongoing research 

Some people cannot take statins to lower their cholesterol because of coexisting conditions or receiving other treatments such as some immunosuppressive drugs.

We are funding Dr Gabriel Cavalli Petraglia at the University of Surrey to develop alternative ways of lowering cholesterol.

Gabriel is using nanomaterials which could be injected into the blood to gather up ‘bad-cholesterol’. This may reveal interesting new ways of lowering cholesterol in people who are at risk, and offer hope to those who cannot receive statins or other available treatments.

Support heart research

Help us to fund more life saving research to improve the outcomes for people diagnosed with FH and other potentially life threatening cardiovascular conditions.