Heart disease experts have suggested today that toddlers get tested for an inherited form of the condition, from as early as twelve months old.

Familial hypercholesterolemia (FH) is a genetic disorder characterised by very high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL – so-called ‘bad’ cholesterol). FH is the main cause of heart disease and increases by 10-fold the chance of someone having a heart attack under the age of 40. However people who have been diagnosed can control their cholesterol levels by taking a daily dose of statins.

Currently testing is carried out when an adult who had has heart problems is found to be FH positive. Doctors then recommend testing for others in the family. It’s estimated that currently between 80-90% of FH cases remain undiagnosed.

However a new study led by a team from Queen Mary University of London took a different approach. They tested a group of one-year-old children for known genetic mutations which are linked to FH. Out of 10,000, 40 were found to be FH positive. Not only has this group of children been identified early, but because the condition is genetic, one or both of their parents must have it too. For every one positive FH test, at least two people were diagnosed.

According to the lead researcher Dr David Wald, preventive diagnostic testing for FH could prevent up to 600 heart attacks a year among the under-40s in England and Wales. He told the BBC,

“This is the only screening method that stands a reasonable chance of covering the whole population and identifying those at highest risk of an early heart attack.”

The broadcaster also spoke to the British Heart Foundation’s Medical Director Professor Sir Nilesh Samani who said,

“Early diagnosis in children is likely to substantially improve treatment of their condition and will help find other family members with FH. But before nationwide screening is adopted by the NHS, more work needs to be done to show it’s a cost-effective way for picking up individuals with FH which will be acceptable to families.”

Randox Biosciences have developed a FH test in partnership with the Belfast Health and Social Care Trust to proactively diagnose FH. Utilised on our patented Biochip Array Technology, our FH arrays simultaneously detect 40 of the most common FH-causing mutations within the LDLR, ApoB and PCSK9 genes, with results available in just three hours.

The test, which is available through Randox Health Clinics, has also 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.

He said the availability of this test marked a key milestone in the detection of the condition,

“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. 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. 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.”