In updated guidance published today, NICE recommends that primary care medical records are systematically checked to find people who may be at risk of familial hyperchelosterolaemia (FH), an inherited form of high cholesterol.
Familial hypercholesterolaemia is caused by a genetic defect (or mutation) which affects the body’s ability to break down cholesterol, causing high levels to accumulate in the blood from birth.
At the moment only 15% of the estimated 260,000 people in the UK with FH have been diagnosed, including just 600 of the 56,000 children thought to have the condition. In men FH can lead to a 1 in 2 chance of having a heart attack or stroke, before they are 50 years old. In women the risk is nearly 1 in 3 by the time they are 60 years old. Siblings and children of people with FH have a 50% risk of inheriting the condition.
The guideline recommends that primary care records are examined to identify people who have a total cholesterol level greater than 7.5 mmol/l if they are under 30 years old, or 9.0 mmol/l if they are aged 30 or over. These thresholds will identify people at risk of FH.
The updated guidance recognises that DNA testing is now considered to be the gold standard for identifying affected relatives (cascade testing) and no longer recommends using lipoprotein cholesterol (LDL-C) measurement because some people with an identified mutation and diagnosis of FH may not have an LDL-C concentration above the diagnostic threshold.
Diagnosis is key
Talking about the importance of diagnosing the condition, Professor Mark Baker, director of the centre for guidelines at NICE, said: “Familial hypercholesterolaemia is a serious, often undiagnosed but relatively common condition which, if treated early, ideally in childhood, will not affect normal life expectancy for the majority of people with it. However, without treatment people with FH have a high chance of developing CVD earlier than most people. Starting on the right treatment, usually with a high-intensity statin, as soon as possible is important, but only a fraction of people with the condition know they have it."
Our Medical Director, Professor Sir Nilesh Samani, said: “It’s disappointing that we have the ability to diagnose and treat people with FH, yet 85% remain undiagnosed and at risk of a potentially fatal heart attack or stroke. These new guidelines, based on the best available evidence, provide a clear approach to managing FH that could ultimately save lives.
“The BHF is committed to working with the NHS to implement this guidance as quickly as possible, including through the widespread rollout of genetic testing for families affected by FH. Cascade testing is a highly cost-effective and efficient way of saving lives. If we are to avoid sudden and unexpected deaths from FH, we need to ensure that everyone at risk has access to these tests."
The BHF is working in partnership with NHS England, Public Health England, Heart UK and NICE to aid implementation of the guideline.
From the lab to the clinic
BHF Professor Steve Humphries made many important discoveries about the faulty genes which cause FH. It is thanks to his research that scientists were able to develop a blood test to show whether someone has a fault in one of three key genes. We piloted cascade testing in Wales and evaluated it to prove that it reduced the risk of premature cardiovascular disease, and is cost-effective. As a result, it’s been rolled out across the UK.
Changing lives with research