NICE Guidance on Familial Hypercholesterolaemia: All sugar and Spice?

Gerald Watts, I. Hamilton-Craig, D. Sullivan

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    11 Citations (Web of Science)


    Familial hypercholesterolaemia (FH), due to dominant mutations of genes affecting the function of the LDL receptor, is the most common and serious form of inherited hyperlipidaemia [1]. It accelerates the onset of all forms of atherosclerotic cardiovascular disease by one to four decades. There is evidence that opportunistic and cascade screening can detect individuals at an early stage of FH [2]. This is important because lifestyle measures and cholesterol-lowering drugs, particularly statins [2], [3] and [4], can substantially decrease the risk of coronary disease in affected people. It is estimated that only 20% of FH cases have been diagnosed in most western healthcare systems, and only approximately 7% are adequately treated [4]. If anything, Australia and New Zealand lag behind these statistics [5]. A recent audit of hospital patients with premature coronary disease in Western Australia emphasised the large gap in the detection and management of FH.
    Original languageEnglish
    Pages (from-to)181-183
    JournalHeart, Lung and Circulation
    Issue number3
    Publication statusPublished - 2009


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