What is familial haypercholesterolaemia? Familial hypercholesterolaemia (FH) is a common inherited disorder of low density lipoprotein (LDL) cholesterol metabolism. It is an autosomal dominant disease that occurs owing to a mutation in one of three genes associated with LDL-cho-lesterol metabolism. Patients with FH have raised cholesterol from birth, with serum triglyceride concentrations either normal or only slightly raised, unless there is a secondaiy cause. The FH genotype is either homozygous (prevalence 1 in 1 000 000) or heterozygous (prevalence 1 in 250-500) (Benn, Watts, Tybjaerg-Hansen, Nordestgaard, 2012). There are an estimated 120 000 patients with heterozygous FH in the UK and the majority remain undiagnosed (Ramaswami, Cooper, Humphries, 2016). FH has been labelled the 'silent killer', as patients are often not identified until they present with premature coronary artery disease. Patients with homozygous FH have a veiy high risk of coronary and aortic root atherosclerosis, with most developing overt disease before 20 years of age. The disease is generally fatal by 30 years of age (Cuchel et al., 2014). Patients with heterozygous FH are less severely affected: Untreated, the mean age of onset of coronary heart disease is 45 in men and 55 in women (Neil et al., 2004). Once identified and appropriately treated, these patients have a favourable long-term prognosis, with registry data indicating that statin treatment for primary prevention results in a 48 reduction in cardiovascular mortality in those with heterozygous FH, effectively reducing risk to that of the general population (Neil et al., 2008).
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