Australians could be at risk of an early death without knowing it, as doctors warn not enough testing is being done for a genetic condition causing dangerously high cholesterol levels.
Jenny Della-Vedova had no idea she’d inherited a ticking time bomb.
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“It came out my mum had a heart attack at 46. Her brother died young,” she said.
Her arteries were clogged with cholesterol, but she couldn’t figure out why.
“We were like well we can’t diet out of this, we’ve tried that and we tried taking drugs and it’s not going down,” Jenny said.
Jenny Della-Vedova had no idea she’d inherited a ticking time bomb.. Credit: 7NEWS
A blood test revealed she had familial hypercholesterolaemia, also known as FH, a genetic defect that causes dangerously high cholesterol. Her brother had it too.
“My daughter, I passed the genetics on to her. She has two children. Her daughter doesn’t carry it but her son does,” Peter Della-Vedova said.
“It’s not a lifestyle situation. Ours is because our liver doesn’t clear out the cholesterol,” Jenny explained.
The Della-Vedova family. Credit: 7NEWS
FH can lead to heart disease or a sudden attack if it isn’t caught in time.
One in every 250 Australians suffer from the condition. Experts say most have no idea and that current testing doesn’t go far enough.
“Blood testing down the generation is, we know, to be highly effective. But to expect general practitioners to do it for everyone across the state and beyond is not practical,” Royal Perth Hospital cardiologist and University of Western Australia professor Gerald Watts said.
Royal Perth Hospital cardiologist and University of Western Australia professor Gerald Watts. Credit: 7NEWS
Right now, there’s no central system to track and treat the condition, so families can often slip through the cracks.
Experts are calling to have a national screening hub for the disease, the same way we do for cancer and other deadly conditions.
“It’s not just about detection. We actually need a follow-up system, a follow-up service that delivers a high-quality continuity of care,” Watts said.
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