Australians Face Hidden Risk from Genetic Cholesterol Condition
Thousands of Australians could be unknowingly at risk of premature death, as medical professionals highlight a critical gap in testing for a genetic disorder that leads to dangerously elevated cholesterol levels. Familial hypercholesterolaemia (FH), a hereditary defect, often goes undetected, putting individuals in grave danger without their awareness.
Personal Story Reveals Inherited Danger
Jenny Della-Vedova was completely unaware she had inherited what she describes as a ticking time bomb. Her family history provided early warnings, with her mother suffering a heart attack at age 46 and her uncle dying young, yet the underlying cause remained a mystery for years.
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 explained, reflecting on her struggle to manage her cholesterol through conventional methods. A simple blood test eventually uncovered the truth: she had FH, a condition where the liver fails to clear cholesterol properly, leading to artery blockages.
Her brother, Peter Della-Vedova, also carries the gene and has passed it on to his grandson, illustrating the familial nature of this disorder. It’s not a lifestyle situation. Ours is because our liver doesn’t clear out the cholesterol, Jenny emphasized, debunking common misconceptions about cholesterol management.
Widespread Impact and Testing Shortfalls
FH affects approximately one in every 250 Australians, yet experts estimate that the majority of those with the condition remain undiagnosed. This lack of detection can result in severe health consequences, including heart disease or sudden cardiac events if left untreated.
Gerald Watts, a cardiologist at Royal Perth Hospital and professor at the University of Western Australia, pointed out the impracticality of relying solely on general practitioners for widespread testing. 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, he stated, highlighting the need for a more systematic approach.
Calls for National Screening and Follow-Up Care
Currently, Australia lacks a centralized system to track and treat FH, allowing many families to fall through the cracks. Medical authorities are advocating for the establishment of a national screening hub, similar to those used for cancer and other life-threatening diseases, to improve detection rates and patient outcomes.
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 urged, stressing the importance of ongoing management for those diagnosed with FH. This proposed system would ensure that individuals receive consistent, high-quality care to mitigate the risks associated with this genetic condition.
By implementing such measures, Australia could significantly reduce the number of preventable deaths linked to FH, safeguarding the health of future generations.
