Intended for healthcare professionals


Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia

BMJ 2002; 324 doi: (Published 01 June 2002) Cite this as: BMJ 2002;324:1303

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  1. Dalya Marks, research fellowa,
  2. David Wonderling, research fellowa,
  3. Margaret Thorogood, reader in public health and preventative medicine (Margaret.Thorogood{at},
  4. Helen Lambert, senior lecturerb,
  5. Steve E Humphries, professorc,
  6. H Andrew W Neil, honorary consultant physiciand
  1. a London School of Hygiene and Tropical Medicine, London WC1E 7HT
  2. b Department of Social Medicine, University of Bristol, Bristol BS8 2PR
  3. c Centre for Cardiovascular Genetics, University College London Medical School, London WC1E 6JF
  4. d Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Infirmary, Oxford OX2 6HE
  1. Correspondence to: M Thorogood
  • Accepted 11 December 2001


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.


  • Funding Health Technology Assessment programme (project number 95/29/04). The opinions expressed therein are those of the authors and not necessarily those of the NHS Executive. DM was supported in the preparation of this paper by an unconditional grant from Merck Sharpe and Dohme. SEH and HAWN acknowledge grants RG2000025 and RG93008 from the British Heart Foundation.

  • Competing interests None declared.

  • Accepted 11 December 2001
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