Imperial College London

Imperial researchers call for improved screening to tackle cholesterol condition



A global campaign to map a genetic condition that causes abnormally high cholesterol levels has been launched by Imperial College London researchers.

Called Familial Hypercholesterolaemia (FH), the condition is hereditary, and is relatively common, affecting as many as 1 in 200 to 1 in 250 people worldwide and higher in communities where consanguinity is more common.

Many people think of cholesterol problems as belonging to overweight individuals with unhealthy lifestyles – but FH is a common genetic condition and a major public health challenge.

– Kausik Ray

Professor of Public Health

Most people with FH are unaware of their dangerously high cholesterol levels from birth until they suffer a heart attack or stroke or die suddenly – often before the age of 50 if they carry one 'bad' gene or before the age of 25 if they carry two 'bad' genes.

Although it is relatively easy to screen people for FH, many people go untested because awareness is low. In Britain alone, it is estimated about 320,000 people will have FH, but less than 10 per cent are detected.

The condition is hereditary, so when one person is diagnosed, systematic screening of relatives will identify new patients – on average, 50 per cent of close relatives will also have FH. This practice has not been widely adopted in the UK or in many other countries, partly due to low awareness.

In a bid to encourage governments to improve screening practices, a team at Imperial College London, working in collaboration with the European Atherosclerosis Society (EAS), has set up an international partnership called the FH Studies Collaboration (FHSC) to map how FH is detected and managed in different countries. Details are published in the journal Atherosclerosis.

“Many people think of cholesterol problems as belonging to overweight individuals with unhealthy lifestyles – but FH is a common genetic condition and a major public health challenge,” says Kausik Ray, Professor of Public Health at Imperial College London.

“To make widespread changes in screening practices, and to start treatment early we need robust data. This initiative will enable us to gather sufficient global information to present to governments and health authorities to drive these changes.”

The information will be made widely available so that healthcare professionals can use it to encourage improvements in FH screening in their own countries as well as improvements in treatment and care of FH patients.

Drugs such as statins can be effective in treating FH, and can bring cholesterol down by as much as 50% whilst additional treatments such as ezetemibe can reduce levels by a further 20%. However, because diagnosis is often very late, treatments may have less of an impact as patients have more advanced disease or consequences from lifelong elevations in cholesterol. Hence the key is to detect early and treat early. However, even with current treatments, levels of cholesterol may remain so high as to never completely normalise risk in these individuals. Newer treatments called PCSK9 inhibitors are emerging which when added to current therapies can reduce cholesterol levels much further by 50-60% which might further the risk of heart disease and stroke in this condition.

“We need to put in place more robust systems to detect and treat FH. If we can do this, we can provide much better care for FH patients, as well as significantly reducing the burden on healthcare systems,” says Professor Ray.

The FH Foundation, together with the EAS, and charities in the UK such as HEART UK, are also holding an FH Awareness Day on 24 September, to further raise the profile of the condition. Community outreach events and social media campaigns by FH experts and patients focus on the need for early detection and treatment and are targeted at the general public, as well as healthcare professionals and policy-makers.



Laura Gallagher

Laura Gallagher
Communications Division

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