Progress in the care of familial hypercholesterolaemia: 2016
Familial hypercholesterolaemia (FH) is the most common autosomal dominant condition.1 FH reduces the catabolism of low-density lipoprotein cholesterol (LDL-c) and increases rates of premature atherosclerotic cardiovascular disease (CVD). This review focuses on recent advances in the management of FH, and the implications for both primary and secondary care, noting that the majority of individuals with FH remain undiagnosed.2
FH was previously considered to have a prevalence of one in 500 in the general community, including in Australia.3 Recent evidence, however, suggests the prevalence is between one in 200 and one in 350, which equates to over 30 million people estimated to have FH worldwide.4,5 These prevalence figures relate to the general population, and while FH is present in all ethnic groups, communities with gene founder effects and high rates of consanguinity, such as the Afrikaans, Christian Lebanese and Québécois populations, have a higher prevalence of the condition.
Further, the prevalence of homozygous or compound heterozygous FH has been demonstrated to be at least three times more common than previously reported, with a prevalence of about one in 300 000 people in the Netherlands.4 The detection…