BMJ 2002;324:1303 ( 1 June )

Papers

Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia

Dalya Marks, research fellow, ^a David Wonderling, research fellow, ^a Margaret Thorogood, reader in public health and preventative medicine, ^a Helen Lambert, senior lecturer, ^b Steve E Humphries, professor, ^c H Andrew W Neil, honorary consultant physician. ^d

^a London School of Hygiene and Tropical Medicine, London WC1E 7HT, ^b Department of Social Medicine, University of Bristol, Bristol BS8 2PR, ^c Centre for Cardiovascular Genetics, University College London Medical School, London WC1E 6JF, ^d Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Infirmary, Oxford OX2 6HE

Correspondence to: M Thorogood Margaret.Thorogood{at}lshtm.ac.uk

Objectives: To assess the cost effectiveness of strategies to screen for and treat familial hypercholesterolaemia.
Design: Cost effectiveness analysis. A care pathway for each patient was delineated and the associated probabilities, benefits, and costs were calculated.
Participants: Simulated population aged 16-54 years in England and Wales.
Interventions: Identification and treatment of patients with familial hypercholesterolaemia by universal screening, opportunistic screening in primary care, screening of people admitted to hospital with premature myocardial infarction, or tracing family members of affected patients.
Main outcome measure: Cost effectiveness calculated as cost per life year gained (extension of life expectancy resulting from intervention) including estimated costs of screening and treatment.
Results: Tracing of family members was the most cost effective strategy (£3097 (5066, $4479) per life year gained) as 2.6 individuals need to be screened to identify one case at a cost of £133 per case detected. If the genetic mutation was known within the family then the cost per life year gained (£4914) was only slightly increased by genetic confirmation of the diagnosis. Universal population screening was least cost effective (£13 029 per life year gained) as 1365 individuals need to be screened at a cost of £9754 per case detected. For each strategy it was more cost effective to screen younger people and women. Targeted strategies were more expensive per person screened, but the cost per case detected was lower. Population screening of 16 year olds only was as cost effective as family tracing (£2777 with a clinical confirmation).
Conclusions: Screening family members of people with familial hypercholesterolaemia is the most cost effective option for detecting cases across the whole population.

What is already known on this topic In the United Kingdom there are an estimated 110 000 men and women with familial hypercholesterolaemia, only a small percentage of whom have been identified to date Without identification and treatment, over half of these people will have a fatal or non-fatal coronary heart disease event by the age of 50 (men) or 60 (women) Effective treatment of high cholesterol concentrations reduces total and coronary heart disease mortality No recommended screening strategy currently exists in the United Kingdom for familial hypercholesterolaemia What this study adds Computer modelling has shown that the earlier familial hypercholesterolaemia is diagnosed the more cost effective the screening strategy becomes Identifying relatives of people with familial hypercholesterolaemia is the most cost effective screening option for all age groups As technology improves and the cost of statins falls all strategies will become more cost effective

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