Abstract
Objective: To describe demographic characteristics, current local clinical management and outcomes for patients with familial hypercholesterolaemia (FH) managed at the Royal Brompton and Harefield ...
Highlights
Familial hypercholesterolaemia (FH) is an inherited genetic defect characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth leading to early atherosclerotic heart disease and increased risk of premature death
LDL-receptor gene (LDLR), gene coding for apolipoprotein B and the gene encoding proprotein convertase subtilsim/kexin 9 are responsible for causing FH
The 306 patients included in the evaluation were genetically tested for FH at RBHT between October 2005 and April 2016
Summary
Familial hypercholesterolaemia (FH) is an inherited genetic defect characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth leading to early atherosclerotic heart disease and increased risk of premature death. In the UK the 2008 National Institute for Health and Care Excellence (NICE) guidelines on FH [4] and the associated Quality Standard [5] recommend cascade screening for first degree relatives of all patients with FH. This results in early diagnosis for many individuals with FH and once identified, individuals will be offered healthy lifestyle advice and appropriate lipid lowering therapies. Recent Northern European population studies suggest that prevalence of heterozygous FH is likely to be 1 in 200 to 270 and homozygous FH 1 in 640,000 [7,8,9,10]
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