Have you heard of 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 this National Cholesterol Month is that a rapid and accurate diagnostic test for FH, developed by Randox Laboratories, has made diagnosis across the UK much simpler.

The prevalence of FH

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 children. 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 women.

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 UK. 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 condition.

Testing for FH

The current recommended screening techniques for Familial Hypercholesterolemia 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 10.

The Randox FH test, developed 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, and a  definitive diagnosis within one day.

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 condition.

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 Randox 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.”

For more information please contact the Randox PR team by email: randoxpr@randox.com, or by phoning 028 9442 2413