Familial hypercholesterolaemia: a silent killer

Suzanne's story

I had a DNA test where scientists checked to see if I had a mutation

Suzanne didn’t know she had an inherited condition called familial hypercholesterolaemia, which put her at very high risk of heart disease. Thanks to BHF-funded research and a new testing service we part-funded in Wales, she’s got a diagnosis that could save her life.

Suzanne is 39 years old, works part-time as a paralegal, and has a five year old son. Despite a healthy lifestyle, Suzanne is at higher risk of heart disease than most people because of her genes. “I have a condition called familial hypercholesterolaemia or FH that causes me to have high cholesterol that if left untreated could mean I get heart disease at a younger age,” explains Suzanne. Her body can’t process cholesterol normally so it stays in the blood where it can begin to form fatty plaques on the walls of arteries.

Developing a test for FH

FH is caused by a genetic mutation – a slight variation in the DNA that makes up Suzanne’s genes. BHF Professor Steve Humphries has studied FH for almost 30 years and has made a major contribution to our knowledge of the condition. Professor Humphries was one of the first to show a DNA test could be used to see whether relatives of someone with FH also have the condition. “Since then we’ve put a lot of work into developing faster and faster, more accurate, and cheaper ways to test and find the genetic mutation in a person if he or she is suspected of having FH,” says Professor Humphries.

Suzanne was suspected of having FH because her cholesterol levels were unusually high. Doctors recommended checking her cholesterol because her father died of a heart attack aged just 41. “I had a DNA test where scientists checked to see if I had a mutation that causes FH,” says Suzanne. This test is now being used as part of a screening programme, part-funded by the BHF, in Wales.

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Screening saves lives

My son will be tested to see if I’ve passed my FH gene onto him

Now, if someone in Wales has an unusually high cholesterol level their DNA can be tested for FH genes. If one is found, then their immediate family can be contacted to see if they want to be tested. “My son will be tested to see if I’ve passed my FH gene onto him. Hopefully he won’t have it but if he does, thankfully we’ll know early so doctors can give him medication and advice to reduce its impact,” says Suzanne.

FH, once diagnosed, is a very manageable condition. Suzanne now takes cholesterol lowering drugs and is careful to lead a healthy lifestyle to keep her cholesterol as low as possible.

Without donations from the public, we couldn’t have funded the life-saving research to understand what causes FH and the screening project in Wales. We need your support if we're going to make diagnosis of FH even better and have a nationwide screening programme for this deadly condition. 

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