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The National Institute for Healthcare and Clinical Excellence (NICE) guidance on the identification and management of familial hypercholesterolaemia (FH) is welcome and much needed.1 FH is among the most common autosomal dominant inherited conditions, affecting around 1 in 500 people in the UK, with an estimated 116 000 heterozygotes (although homozygotes occur only in around 1 per million). The condition is characterised by a number of well-defined genetic defects mainly in the low-density lipoprotein (LDL) receptor, less commonly in apolipoprotein B, and rarely in proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. These gene defects lead to abnormal receptor-LDL interactions, reduced LDL metabolism, consequent high levels of LDL cholesterol and a high propensity to oxidation of cholesterol leading to atherosclerosis. FH is an important preventable cause of premature coronary heart disease (CHD), as high levels of mortality and morbidity are seen in people with untreated FH; cumulative risk of premature cardiovascular disease with heterozygous FH (age at onset before 50 years) are around 50% in men and 30% in women.2 With the advent of statins, the standardised mortality rate for patients aged 20–60 years with FH has fallen from 8.1 to 3.7, equating to almost a decade of extra life years.3
This NICE guidance coincides with a raft of other cardiovascular guidelines recently published, including stroke, type 2 diabetes and lipid modification. A mantra common to all new NICE guidelines is that of patient-centred care—the involvement of patients in therapeutic decisions is strongly encouraged. As FH may be detected in childhood, involvement of families in screening and therapeutic decisions, and managing transition from paediatric to adult care is also emphasised.
With respect to the diagnosis of FH, NICE advocates the use of the “Simon Broome criteria” for stratification into definite, or possible FH. These criteria are widely accepted and …