Screening call for genetic heart disease

“A national Medicare-funded screening program for genetic high cholesterol is urgently required to provide a powerful weapon in the fight against heart disease.”

This is the call from Professor Ian Hamilton-Craig, Professor of Preventive Cardiology at Griffith Health Institute, who is working to increase Australian awareness of genetic high cholesterol – otherwise known as familial hypercholesterolemia – and reduce premature heart disease.

More widely known about and addressed in the Netherlands, Scandinavia, the UK and the US, the FH gene causes excess cholesterol to accumulate in the arteries of those who carry the gene, leading to increased risk of early heart attack.

“FH is one of the most common metabolic diseases of genetic origin,” said Professor Hamilton-Craig.

“We think it may be even more common than Type 1 Diabetes and it’s all due to a single gene mutation affecting cholesterol.

“We estimate that around one in 300 people are born with the gene mutation. It explains the high cholesterol levels in people who die at 45-55 years of age due to coronary disease who were previously symptom-free.

“Unfortunately, FH very often goes unreported in patients due to the misconception that it is much rarer than it actually is. This has consequently led to a limited awareness within the general Australian community.

“Additionally, there is currently no Federal reimbursement for FH DNA screening and private testing comes at considerable cost to patients.

“What we need is a national screening program, including DNA testing, like those in the Netherlands and Scandinavia. In these countries the governments pay for
DNA testing in people with high cholesterol, including children who can be diagnosed at any age. Treatment with diet is started from the age of 2, and in the Netherlands, medications to lower cholesterol are recommended from the age of 10.

“Testing for FH – whether with a cholesterol or DNA test – should be done at the latest by the age of 21, before significant hardening of the arteries occurs. Earlier treatment, consequently, is likely to be much more effective,” Professor Hamilton-Craig said.

“My research colleagues and I agree that a Medicare-funded 20-25 year old health check which includes cholesterol testing and a detailed family history is the best option.

“This will not be yet another drain on the public purse. Economic analysis has shown FH treatment to be very cost-effective.

“This is because downstream costs of heart attack admissions, coronary bypass surgery and coronary angioplasty are greatly reduced by effective treatment in FH. The screening will save the community money by identifying and treating people early.”