Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis

• Published in: Health technology assessment (Winchester, England) England), 2000, Vol.4 (29), p.1-123
• Main Authors: Marks, D, Wonderling, D, Thorogood, M, Lambert, H, Humphries, S E, Neil, H A
• Format: Article
• Language: English
• Subjects: Adult; Aged; Algorithms; Attitude to Health; Child; Cost-Benefit Analysis; Decision Trees; Female; Humans; Hyperlipoproteinemia Type II - diagnosis; Hyperlipoproteinemia Type II - epidemiology; Hyperlipoproteinemia Type II - therapy; Male; Mass Screening - adverse effects; Mass Screening - economics; Mass Screening - methods; Mass Screening - psychology; Middle Aged; Models, Econometric; Morbidity; Needs Assessment; Practice Guidelines as Topic; Research Design; Technology Assessment, Biomedical; United Kingdom - epidemiology
• ISSN: 1366-5278; 2046-4924
• DOI: 10.3310/hta4290

In the majority of people with familial hypercholesterolaemia (FH) the disorder is caused by a mutation of the low-density lipoprotein receptor gene that impairs its proper function, resulting in very high levels of plasma cholesterol. Such levels result in early and severe atherosclerosis, and hence substantial excess mortality from coronary heart disease. Most people with FH are undiagnosed or only diagnosed after their first coronary event, but early detection and treatment with hydroxymethylglutaryl-coenzyme (HMG CoA) reductase inhibitors (statins) can reduce morbidity and mortality. The prevalence of FH in the UK population is estimated to be 1 in 500, which means that approximately 110,000 people are affected. To evaluate whether screening for FH is appropriate. To determine which system of screening is most acceptable and cost-effective. To assess the deleterious psychosocial effects of genetic and clinical screening for an asymptomatic treatable inherited condition. To assess whether the risks of screening outweigh potential benefits. Relevant papers were identified through a search of the electronic databases. Additional papers referenced in the search material were identified and collected. Known researchers in the field were contacted and asked to supply information on unpublished or ongoing studies. INCLUSION/EXCLUSION CRITERIA: SCREENING AND TREATMENT: The review included studies of the mortality and morbidity associated with FH, the effectiveness and cost of treatment (ignoring pre-statin therapies in adults), and of the effectiveness or cost of possible screening strategies for FH. PSYCHOSOCIAL EFFECTS OF SCREENING: The search for papers on the psychological and social effects of screening for a treatable inherited condition was limited to the last 5 years because recent developments in genetic testing have changed the nature and implications of such screening tests. Papers focusing on genetic testing for FH and breast cancer were included. Papers relating to the risk of coronary heart disease with similarly modifiable outcome (non-FH) were also included. DATA EXTRACTION AND ASSESSMENT OF VALIDITY: A data assessment tool was designed to assess the quality and validity of the papers which reported primary data for the social and psychological effects of screening. Available guidelines for systematically reviewing papers concentrated on quantitative methods, and were of limited relevance. An algorithm was developed which could be used for both