Medical School

Postgraduate research profiles


Damon Bell

Start date

Jan 2012

Submission date

Curriculum vitae

Damon Bell CV
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Updated 30 Sep 2014

Damon Bell


Optimising strategies for the detection of familial hypercholesterolaemia in Australia


Background: Familial hypercholesterolaemia (FH) is an autosomal co-dominant disorder of lipoprotein metabolism characterised by elevated low-density lipoprotein cholesterol (LDL-cholesterol) and premature cardiovascular disease (CVD). FH fulfills the disease screening criteria described by the World Health Organisation. However, despite this, most countries have not implemented systematic FH screening programs, and only a minority of individuals with FH are currently diagnosed, and those who are diagnosed are often under treated.

Aims: The principal hypothesis of this thesis was that FH detection could be enhanced by establishing and optimising strategies for opportunistic FH detection using the lipid testing currently being performed for systematic cardiovascular risk assessment. The second aim was to determine the efficacy of genetic FH cascade screening in an Australasian setting in terms of detection yield and optimisation of CVD risk factors.

Scope: To undertake a literature review on cardiovascular disease screening, and FH screening specifically. To examine the hypotheses, a series of studies were conducted to determine the potential to screen for FH using the LDL-cholesterol measurement performed at a community laboratory, and then to establish the diagnostic yield of appending an interpretative comment and/or calling the requesting general practitioner of individuals found to be at high risk of FH. To optimise FH detection, studies of general practitioners knowledge and practices regarding FH, and to establish whether the Dutch lipid clinic network criteria could be used to identify people at high risk of FH in primary care were conducted. Finally, to a study to determine the yield and effectiveness of genetic cascade screening in Australia was performed.

Why my research is important

The studies in this thesis have established that opportunistic FH detection can occur using the lipid profiles already performed in the community. Interpretative comments were associated with significant LDL-cholesterol reductions. A telephone call to the requesting GP of high risk individuals significantly improved FH detection, 72% of whom were diagnosed with FH. Genetic FH cascade screening is effective in Australasia, and additional reductions in LDL-cholesterol are achieved despite the increase use of lipid lowering medications in the community.


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