Blood from Guthrie test samples taken at birth could be used to detect a child’s future risk of hypercholesterolaemia and heart disease,  according to a leading cardiologist.

Associate Professor Roger Allan, cardiologist and chair of the National Heart Foundation’s clinical issues committee, said lymphotoxin-alpha (LTa) was a protein that carried components of cholesterol and could be measured in blood at birth.

“The LTa is a very good guide to the risk of hypercholesterolaemia, probably one of our better measures rather than just total cholesterol or HDL or LDL cholesterol,” he said.

Professor Allan’s comments follow publication of a 20-year follow-up study of 3258 participants that found that non-optimal LDL and HDL cholesterol levels during young adulthood were associated with coronary atherosclerosis two decades later.

The findings, published in the Annals of Internal Medicine have challenged the widely held assumption that non-optimal LDL, HDL and triglycerides are non-significant in adults in their 20s and 30s.

Atherosclerotic changes that persisted into middle age probably contributed to higher rates of CHD events such as heart attacks and death, the authors said.

Professor Allan said LTa testing at birth should be considered because it would help identify at-risk parents and siblings.

If a baby was found to be at risk, the aim would be to treat them with healthy diet and exercise measures throughout childhood and adolescence then potentially initiate statins at age 18 to 20 years, he said.

“We do know that if we intervene earlier, you will prevent the progression of vascular disease using statins,” Professor Allan said.

LTa testing had been used in research to trace parents with high cholesterol who were identified using blood from their baby’s Guthrie test sample, but a commercially available clinical test would need to be developed for wider use, Professor Allan said.

He said arterial fatty deposits had been identified in children as young as seven, marking the beginning of atherosclerosis, but its acceleration depended on many factors, including serum cholesterol.


Annals Intern Med 2010; 153:137-146.
Posted 9 August, 2010

One thought on “Test at birth could guide future cholesterol management

  1. barjammar says:

    Did you know that the West Australian Health Department deliberately destroyed thousands of Guthrie Tests rather than let them be available for future medical research?
    To prevent more of this waste, legal immunity needs to be given to protect all medical specimens from forensic examination.

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