- World’s most advanced targeted test for UK families with gene-mutation disorder
- One of the most common and most underdiagnosed inherited diseases – FH affects at least 120,000 people in the UK, yet less than 12% are diagnosed
- Causes dangerously high levels of cholesterol, leading to early onset cardiovascular disease
- New molecular blood test makes diagnosis faster and easier
Celebrating World Heart Day, a UK diagnostics company has unveiled a rapid, highly accurate diagnostic test to identify individuals with familial hypercholesterolemia (FH), a common disorder that is passed from parents to their children. FH is often called the ‘silent killer’ as it is characterised by dangerously high levels of cholesterol, leading to early onset cardiovascular disease. The good news is that if diagnosed, FH can be effectively treated; the even better news on World Heart Day is that this new test has just made diagnosis across the UK much simpler.
Thousands of families in the UK are affected by FH, as not only is heart disease the number one killer across the globe, there is a 50:50 chance that a parent with FH will pass it onto their children1,2. The condition can lead to higher risk of a heart attack in men before the age of 50, or before the age of 60 in women6.
A common disease, at least 1 in every 500 people in the UK are living with FH, although new international research suggests that 1 in every 200 people could be affected, which would mean as many as 300,000 people in the UK1,3,5. Worryingly, it is substantially underdiagnosed and less than 12% of people with FH in the UK are aware that they have this potentially life-threatening condition1.
The current recommended screening techniques are costly and time consuming, limiting the number of individuals who benefit from a timely diagnosis. Under NHS guidelines, when a person is found to have FH, their closest blood relatives should get tested too – including children before the age of 104. The new test allows definitive diagnosis within one day, rather than the usual weeks or even months for current tests, removing unnecessary anxiety and allowing people to take immediate action before it’s too late.
The new molecular test that has been developed by Randox Laboratories in Crumlin, Northern Ireland, in partnership with the Belfast Health and Social Care Trust, enables detection of the 40 most common genetic mutations that cause FH in the UK, with results available in just three hours. With early and appropriate treatment, such as adopting a healthy lifestyle and taking cholesterol-lowering medication, risk of heart disease can be significantly reduced so that someone with FH can live as long as a person who doesn’t have the condition5.
Professor John Chapman, Past- President of the European Atherosclerosis Society, which promotes study into the causes of accelerated atherosclerosis and cardiovascular disease, has welcomed the new test for suspected cases of FH:
“FH is a serious condition for those with a family history of accelerated atherosclerosis and premature cardiovascular disease. With this information, preventative measures including diet, lifestyle and lipid lowering drugs can be successfully introduced. Indeed, early identification and prevention can significantly benefit all family members potentially with this condition. In fact, we are entering an exciting time in the treatment of those with cardiovascular disease as new and highly effective drugs for lipid management are becoming available.”
The test, which is available through Randox Health Clinics, has been adopted by medical professionals within the NHS, including Dr. Colin Graham, recently retired Consultant Clinical Scientist and former Head of the Regional Genetics Lab in the Belfast Health and Social Care Trust, who introduced the test within his Belfast Laboratory screen for suspected cases of FH:
“The launch of this new clinically available test is a key milestone in the detection and diagnosis of FH. Current FH diagnostic tests require a large volume of samples to be batched, leading to lengthy turnaround times of two to three months. With the new test, the turnaround time is dramatically reduced, enabling more rapid patient diagnosis.”
Dr. Graham also highlighted the importance of improving detection rates through the screening of wider patient populations:
“This new test has the potential to enable FH screening to become routine in the clinical setting for improved detection and earlier identification of familial cases.”
Dr. Peter FitzGerald, Managing Director of Randox Laboratories said:
“In the battle against cardiovascular disease, people with FH are on the front line. On World Heart Day it is important to raise awareness of FH as many people do not even know that they and their family members have this life-threatening condition. There is so much that can be done to support families with FH and with this readily available and much-needed test, detecting and treating entire families with FH is now possible.”
References for further information:
1Nordestgaard, B.G. et. al., Familial Hypercholesterolemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart J 2013.
2 Fahed, A.C., Nemer, G.M. Familial Hypercholesterolemia: The Lipids or the Genes? Nutrition and Metabolism. 2011; 8:23.