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BACKGROUND Familial hypercholesterolaemia (FH) affects approximately 1 in 500 people (10 million world-wide) and the elevated serum cholesterol concentrations lead to a more than 50% risk of fatal or non-fatal coronary heart disease by age 50 years in men and at least 30% in women aged 60 years. Based on a systematic literature search, we review the natural(More)
BACKGROUND Family tracing is a method recognized to find new patients with familial hypercholesterolaemia (FH). We have implemented family tracing led by FH Nurses and have determined acceptability to patients, feasibility and costs. METHODS Nurses were located at five National Health Service (NHS) Trusts; they identified FH patients and offered them(More)
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. (More)
OBJECTIVE To estimate the probabilistic cost-effectiveness of cascade screening methods in familial hypercholesterolaemia (FH) from the UK NHS perspective. DESIGN Economic evaluation (cost utility analysis) comparing four cascade screening strategies for FH: Using low-density lipoprotein (LDL) cholesterol measurements to diagnose affected relatives(More)
OBJECTIVES To determine what proportion of cases of heterozygous familial hypercholesterolaemia would be identified by cascade screening conducted by a specialist hospital clinic, and by how much this would increase the prevalence of diagnosed cases. SETTING Hospital clinic serving a population of 605,900 in Oxfordshire, UK. METHODS A specialist nurse(More)
Familial hypercholesterolemia (FH) is associated with pronounced atherosclerosis leading to premature cardiovascular disease and untimely death. Despite the availability of effective preventative drug treatments, many affected individuals remain undiagnosed and untreated until they become symptomatic with cardiovascular disease. To assess the(More)
BACKGROUND Screening for familial hypercholesterolaemia (FH) through family tracing of relatives is cost-effective, but access to the index patient through specialist lipid clinics is a determinant of the programme's success. This paper reports on numbers of FH patients and on specialist lipid clinic provision in the United Kingdom. RESULTS One hundred(More)
BACKGROUND Approximately 110,000 people in the United Kingdom are affected with familial hypercholesterolaemia (FH). At least 75 per cent are undiagnosed. Treatment with statins is effective but effective primary prevention requires early diagnosis. The best strategy to achieve this is unclear. This paper compares the costs and benefits over a 10 year(More)
BACKGROUND 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(More)