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Identifying patients with familial hypercholesterolaemia in primary care
  1. Steve E Humphries1,2,
  2. Gaye Hadfield1,2
  1. 1
    Centre for Cardiovascular Genetics, British Heart Foundation Laboratories, Royal Free and University College London Medical School, London, UK
  2. 2
    London IDEAS Genetics Knowledge Park, London, UK
  1. Professor S E Humphries, University College London Medical School Centre for Cardiovascular Studies, 5 University Street, London WC1E 6JJ, UK; rmhaseh{at}ucl.ac.uk

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In the current issue of Heart, Gray et al report the results of a pilot study to identify patients with familial hypercholesterolaemia (FH) in general practice (see article on page 754).1 Why is this important and how did they do it?

FH is a common disorder where subjects have markedly raised low-density lipoprotein-cholesterol (LDL-C), and consequently have premature coronary heart disease (CHD) and myocardial infarction. Studies carried out in the 1970s in the UK and the USA2 3 suggest that, if untreated, 50% of men with FH will have developed CHD by the age of 55 years and 50% of women by the age of 65 years (women show the same degree of elevation of LDL-C but are protected somewhat from the atherosclerosis until after the menopause). Thankfully, patients with FH are now well treated by statins and their overall standardised CHD mortality rate has fallen from 8.1 in 20–59-year-olds before statins to 3.7 after statins.4 This translates into roughly 9 life-years gained, and models have shown that treatment of patients with FH, even at a young age, is highly cost effective as measured by the cost for each life-year gained.5 Management of other CHD risk factors is also important in patients with FH, the dietary and lifestyle advice, particular smoking cessation, being a benefit, and with the new and more powerful statins now available, it is a realistic possibility for people with FH to have a normal life expectancy.

How many patients with FH are there in the UK, and are they being well managed? The estimated prevalence of FH is 1 in 500, suggesting that there are probably more than 100 000 people with FH in the UK. A recent survey of the 130 lipid clinics currently active in the UK suggests that …

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