Family history focus isolates killer cholesterol gene

Searching South Australia’s Barossa Valley for carriers of the gene that causes genetic high cholesterol is the focus of new Griffith University research.

Led by Professor Ian Hamilton-Craig from the Griffith University School of Medicine, and working with local doctors in the region, the Barossa Family Heart Study aims to identify carriers of the familial hypercholesterolemia (FH) gene in a bid to provide them with treatment and reduce their risk of premature heart disease.

“When I was in cardiology practice in North Adelaide, I found that I had many patients from the Barossa area who were of German Lutheran background,” says Professor Hamilton-Craig.

“A significant number from the Silesian area had a special gene mutation of FH called FH Morocco which causes very high cholesterol levels and can lead to premature heart attack.

“I find it easier to call it genetic high cholesterol, however it can exist in thin people who have a good, low fat diet.

People with FH can even die prematurely

“People with FH, whose cholesterol is untreated, usually show very early coronary heart disease and can even die prematurely,” Professor Hamilton-Craig says. “For example, about 50% of untreated men with FH can have serious disease by the age of 50, and 30% of women by the age of 60. This is several times higher than for the normal population.”

The launch of the Barossa Family Heart Study follows a call by Professor Hamilton-Craig last year for a national Medicare-funded screening program for FH.

“FH is one of the most common metabolic diseases of genetic origin. We think it may be even more common than type 1 diabetes and it’s all due to a single gene mutation affecting cholesterol.

“Unfortunately it 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,” he says.

Coinciding with this year’s 175th anniversary of the arrival of the first group of German Silesian migrants to South Australia, the study will also be looking for a “founder effect,” says Professor Hamilton-Craig. “This occurs in a population which tends to inter-marry for successive generations, thus leading to an increased gene frequency.

“In the case of FH, a founder effect is particularly relevant, because it is associated with a greater rate of coronary heart disease and premature death in those who are not detected and treated.”

He says this is very important, as “studies around the world have shown consistently that FH is currently often under-recognised and therefore under-treated”.

Wider implications

The Barossa Family Heart Study has wider implications too.

“The study will extend into other, non-genetic issues of high cholesterol in an effort to better understand this problem, and to work out strategies for better management within the Australian population,” says Professor Hamilton-Craig.

“This is a major problem in our community. Coronary heart disease remains one of the most common causes of premature death, and of course, high cholesterol is one of the main causative factors that we are able to control effectively with modern treatment.”

For more information please visit www.barossaheart.com

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