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

Abstract

T he overall aim of the NHS R&D Health Technology Assessment (HTA) programme is to ensure that high-quality research information on the costs, effectiveness and broader impact of health technologies is produced in the most efficient way for those who use, manage and work in the NHS. Research is undertaken in those areas where the evidence will lead to the greatest benefits to patients, either through improved patient outcomes or the most efficient use of NHS resources. The Standing Group on Health Technology advises on national priorities for health technology assessment. Six advisory panels assist the Standing Group in identifying and prioritising projects. These priorities are then considered by the HTA Commissioning Board supported by the National Coordinating Centre for HTA (NCCHTA). This report is one of a series covering acute care, diagnostics and imaging, methodology, pharmaceuticals, population screening, and primary and community care. It was identified as a priority by the Population Screening Panel and funded as project number 95/29/04. The views expressed in this publication are those of the authors and not necessarily those of the Standing Group, the Commissioning Board, the Panel members or the Department of Health. The editors wish to emphasise that funding and publication of this research by the NHS should not be taken as implicit support for the recommendations for policy contained herein. In particular, policy options in the area of screening will be considered by the National Screening Committee. This Committee, chaired by the Chief Medical Officer, will take into account the views expressed here, further available evidence and other relevant considerations. Reviews in Health Technology Assessment are termed 'systematic' when the account of the search, appraisal and synthesis methods (to minimise biases and random errors) would, in theory, permit the replication of the review by others.

NICE Guidance on Familial Hypercholesterolaemia: All Sugar and Spice?

“…The FH Guideline is consistent with several extensive reviews of the management of FH including two reports of WHO Consultations [11,12] and a Health Policy Advisory Consultation on Technology for the British National Health Service [13]. A recently completed Australia and New Zealand Horizon Scanning Network report by ASERNIP-S [14] concludes that, "In the context of the Australian and New Zealand healthcare system, the fact that there is no national screening program for FH is disconcerting considering the fact that FH is relatively common and can be effectively treated when early diagnosis is made."…”

Perceptions of control over heart disease in people with an inherited predisposition to raised cholesterol

“…Their elevated serum cholesterol levels greatly increase the incidence of early coronary heart disease. For untreated cases, the incidence of heart disease is greater than 50% in men below the age of 50 years and for women below the age of 60 years (cited in Marks et al, 2000). FH is one of the most common genetic diseases with an estimated prevalence of 1/500 of the population (Goldstein, Hobbs, & Brown, 1995).…”

Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects

“…The most costeffective strategy for FH diagnosis is the mutation screening in first-degree relatives of individuals molecularly identified with FH [10,11]. Initially, the first-degree relatives are genotyped.…”

“…In the heterozygous form, it is estimated that men until 50 years old present an approximately 50% risk of coronary disease onset. Before the age of 60 years, without lipidlowering treatment, that risk could attain 84% in men and 56% in women [10]. The molecular diagnosis within the family allows for both genetic counseling and immediate treatment establishment, which can lead to significant morbidity and mortality reduction [15].…”