Objectives To assess the cost effectiveness of\ud strategies to screen for and treat familial\ud hypercholesterolaemia.\ud Design Cost effectiveness analysis. A care pathway for\ud each patient was delineated and the associated\ud probabilities, benefits, and costs were calculated.\ud Participants Simulated population aged 1654 years\ud in England and Wales.\ud Interventions Identification and treatment of patients\ud with familial hypercholesterolaemia by universal\ud screening, opportunistic screening in primary care,\ud screening of people admitted to hospital with\ud premature myocardial infarction, or tracing family\ud members of affected patients.\ud Main outcome measure Cost effectiveness calculated\ud as cost per life year gained (extension of life\ud expectancy resulting from intervention) including\ud estimated costs of screening and treatment.\ud Results Tracing of family members was the most cost\ud effective strategy (£3097 (&5066, $4479) per life year\ud gained) as 2.6 individuals need to be screened to\ud identify one case at a cost of £133 per case detected. If\ud the genetic mutation was known within the family\ud then the cost per life year gained (£4914) was only\ud slightly increased by genetic confirmation of the\ud diagnosis. Universal population screening was least\ud cost effective (£13 029 per life year gained) as 1365\ud individuals need to be screened at a cost of £9754 per\ud case detected. For each strategy it was more cost\ud effective to screen younger people and women.\ud Targeted strategies were more expensive per person\ud screened, but the cost per case detected was lower.\ud Population screening of 16 year olds only was as cost\ud effective as family tracing (£2777 with a clinical\ud confirmation).\ud Conclusions Screening family members of people\ud with familial hypercholesterolaemia is the most cost\ud effective option for detecting cases across the whole\ud population
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