Intended for healthcare professionals


Another way of screening for familial hypercholesterolaemia

BMJ 2002; 325 doi: (Published 10 August 2002) Cite this as: BMJ 2002;325:340
  1. Peter F Tyerman, general practitioner,
  2. Gillian V Tyerman (tyerman{at}, general practitioner
  1. Rotherham Road Medical Centre, Barnsley S70 3QF

    EDITOR—We would like to suggest that there is an easier and more cost effective method of screening the population for hyperlipidaemia than that discussed in Marks et al's paper.1

    The diagnosis of familial hyperlipidaemia requires a family history. In primary care one would expect patients to have a check of blood pressure at least every five years. A screen of family history might on average add 30 seconds to this consultation.

    In our practice (list size 5200), using a cost of £25/h, this would produce an additional cost of £436 if the 2097 eligible patients (aged over 25 and under 55) were screened. From the 95% we have screened we found 670 patients with a family history of coronary heart disease, of whom 22 have a cholesterol concentration of >7.5 mmol/l. Using the published figure for opportunistic screening in primary care on the 670, we calculate a cost of £6927, or £2487 per case (using the detection rate of 1 in 938), as compared to the £9072 in the paper.

    By using this method we have found 16 patients who have family history, fasting cholesterol concentration >7.5 mmol/l, and low density lipoprotein >4.9 mmol/l concentration—considerably higher than the suggested incidence of 1 in 938. Genetic testing is not available to us, so we are unable to confirm that these people have familial hyperlipidaemia, although many have convincing family histories.

    It would seem obvious that genetically determined conditions will occur in clusters, and therefore the incidence may vary in different areas. This needs further research to determine optimal screening protocols. However, it would seem to us that a combination of opportunistic screening in primary care and targeted testing could identify 95% of those at risk within five years, as we have done in our practice. It would also give the primary care team valuable information on its practice population so that other coronary heart disease prevention targets can be integrated.

    We use a computerised screening programme, which allows us to educate patients on the reduction of all their risk factors for coronary heart disease, and have achieved considerable reductions in these. The reduction in smoking in our practice, for example, is probably enough to pay for the screening in terms of life years added. In effect, this means that detection of familial hyperlipidaemia is achieved at no extra cost.

    We believe that if these methods were generally adopted the plan to detect all cases of familial hyperlipidaemia in patients aged over 25 by 2010 could be achieved at a cost that could easily be justified.


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