Study suggests testing people at a young age for Familial Hypercholesterolemia (FH) could prevent 600 heart attacks per year

Researchers at the Queen Mary University of London carried out cholesterol and genetic tests on 10,000 children between the age of one and two years old to further investigate the severely under diagnosed condition, commonly known as FH.

The disorder is not solely the result of an unhealthy lifestyle as those with the FH have a genetic mutation that makes their liver incapable of metabolizing (or removing) excess Low Density Lipoprotein (LDL-bad cholesterol), resulting in early heart disease.

As FH is genetic, if a parent has an FH mutation, there is a 50:50 chance that they will pass it onto their children. Additionally, if left untreated, men have a 50% higher chance of experiencing a heart attack before the age of 50 and untreated women have a 30% risk by the age of 60.1

Forty of the children tested positive for the FH mutation, highlighting a rate of 1 in 250. For the children diagnosed, this also revealed one of their parents had the condition.

Lead researcher, Professor David Wald said:

“This is the first demonstration that child-parent screening works on a large scale. It’s 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. Once high-risk children are identified, they can take steps to lower cholesterol, including exercise, avoiding smoking, maintaining a healthy diet, and – when older – taking statin medication.”

Randox Biosciences have developed a 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 3 hours.

Read the full story at The Guardian.

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1-The FH Foundation