Familial hypercholesterolaemia: a silent killer
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
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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
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
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.
today to help support our work.