Screening call for genetic heart disease

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

This is the call from Professor Ian Hamilton-Craig, Professor of PreventiveCardiology at Griffith Health Institute, who is working to increase Australianawareness of genetic high cholesterol – otherwise known as familialhypercholesterolemia – and reduce premature heart disease.

More widely known about and addressed in the Netherlands, Scandinavia, the UKand the US, the FH gene causes excess cholesterol to accumulate in the arteriesof 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,” saidProfessor Hamilton-Craig.

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

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

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

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

“What we need is a national screening program, including DNA testing, like thosein the Netherlands and Scandinavia. In these countries the governments pay for
DNA testing in people with high cholesterol, including children who can bediagnosed at any age. Treatment with diet is started from the age of 2, and in theNetherlands, medications to lower cholesterol are recommended from the age of10.

“Testing for FH — whether with a cholesterol or DNA test — should be done at thelatest by the age of 21, before significant hardening of the arteries occurs. Earliertreatment, 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 oldhealth check which includes cholesterol testing and a detailed family history is thebest option.

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

“This is because downstream costs of heart attack admissions, coronary bypasssurgery and coronary angioplasty are greatly reduced by effective treatment inFH. The screening will save the community money by identifying and treatingpeople early.”