- Anthony S Wierzbicki, consultant chemical pathologist1,
- Steve E Humphries, British Heart Foundation professor of cardiovascular genetics2,
- Rubin Minhas, coronary heart disease clinical lead3
- on behalf of the Guideline Development Group
- 1St Thomas’ Hospital, London SE1 7EH
- 2Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, London WC1E 6JJ
- 3Medway Primary Care Trust, Gillingham ME8 0NJ
- Correspondence to: R Minhas
Why read this summary?
The estimated prevalence of familial hypercholesterolaemia in the United Kingdom is 1 in 500. Heterozygous familial hypercholesterolaemia carries a high risk of premature coronary heart disease (>50% risk in men by the age of 50 years and >30% in women by 60 years), but the condition is underdiagnosed. This article summarises the most recent recommendations from the National Institute for Health and Clinical Excellence (NICE) on diagnosing and managing familial hypercholesterolaemia.1
NICE recommendations are based on systematic reviews of best available evidence. When minimal evidence is available, recommendations are based on the guideline development group’s opinion of what constitutes good practice. Evidence levels for the recommendations are given in italic in square brackets.
Consider the possibility of familial hypercholesterolaemia in adults with raised cholesterol (total cholesterol concentration typically >7.5 mmol/l), especially if they have a personal or family history of premature coronary heart disease. [Based on the experience of the Guideline Development Group]
Make the diagnosis using the Simon Broome criteria: a combination of family history of coronary heart disease (at age <60 years in a first degree relative or <50 years in a second degree relative), clinical examination (specifically tendon xanthomata), and total cholesterol concentration >7.5 mmol/l or low density lipoprotein cholesterol >4.9 mmol/l. [Based on one observational study of moderate quality]
Confirm the diagnosis by referral to a specialist with expertise in familial hypercholesterolaemia. [Based on the experience of the Guideline Development Group]
Management in primary care
Offer lifestyle advice, especially on smoking cessation.
Start treatment with a high intensity statin (such as simvastatin 80 mg or appropriate doses of atorvastatin and rosuvastatin) to achieve a >50% reduction in low density lipoprotein cholesterol concentrations, increasing to the maximum tolerated dose if necessary. [Based on one high quality randomised controlled trial using a surrogate outcome …