• Damon A Bell and Gerald F Watts.
• University of Western Australia, Perth, WA damon.bell@uwa.edu.au.
• Med. J. Aust. 2016 Sep 5; 205 (5): 232-6.

AbstractFamilial hypercholesterolaemia (FH) is the most common autosomal dominant condition, with a prevalence of between one in 200 and one in 350 people in the general population. Untreated FH is associated with premature atherosclerotic cardiovascular disease (CVD). The prevalence of homozygous or compound heterozygous FH is now considered to be about one in 300 000 people. Treating children with FH reduces progression of atherosclerotic CVD and future CVD events. Most individuals with FH are undiagnosed, which together with the recent frequency data in the population and in individuals with premature coronary disease creates a public health challenge and mandates a key role for primary care. Childhood is the optimal period for detecting FH, since low-density lipoprotein cholesterol (LDL-c) concentrations better differentiate affected from unaffected individuals. In an Australian community setting, over 70% of adults with an LDL-c level ≥ 6.5 mmol/L have clinical FH; of these, 30% have a detectable mutation. The community laboratory has an important role in identifying FH, with interpretive comments leading to additional reductions in LDL-c concentrations, and a phone call from the pathologist to the general practitioner improving detection of cases. Cascade screening using DNA testing is cost-effective and acceptable to screenees. Next generation genetic sequencing may differentiate people with polygenic hypercholesterolaemia alone from those with FH. Smoking, hypertension, elevated lipoprotein(a) levels, chronic kidney disease and diabetes are additional atherosclerotic CVD risk factors in FH. Equations for assessing absolute risk of CVD in primary prevention underestimate risk in FH. The adult LDL-c goal is a greater than 50% reduction in LDL-c levels, followed by a target of < 2.5 mmol/L, or < 1.8 mmol/L for individuals with CVD or other CVD risk factors. Proprotein convertase subtilisin/kexin type 9 inhibitors significantly reduce LDL-c and lipoprotein(a) levels in people with FH. Registries are essential for improving the care of people with FH.

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