Humphries, SE and Neil, HAW (2010) Developing and applying clinically useful approaches to identify individuals with familial hypercholesterolemia in the UK. CLIN LIPIDOL , 5 (4) 497 - 507. 10.2217/CLP.10.39.
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Familial hypercholesterolemia (FH) meets internationally agreed criteria for screening, and systematic national screening programs should, therefore, be initiated. Cascade testing (to screen at-risk relatives) of known index cases with FH (using a combination of mutation information and lipid levels) is cost effective, and is an evidence-based method for the identification of undiagnosed cases, but calculations indicate that this approach will, at best, identify 40% of the predicted cases; therefore, additional strategies are needed. Modeling suggests that universal screening will not be cost effective; however, approaches such as identifying potentially affected individuals participating in national Vascular Health Check programs can complement cascade testing. Pilot studies to determine feasibility and practicality of FH patient identification by cholesterol-level screening in children, as well as by general practitioner electronic note searching, are also warranted.
|Title:||Developing and applying clinically useful approaches to identify individuals with familial hypercholesterolemia in the UK|
|Keywords:||cascade testing, DNA testing, early detection, DENSITY-LIPOPROTEIN CHOLESTEROL, RANDOMIZED CONTROLLED-TRIAL, COST-EFFECTIVENESS ANALYSIS, CASCADE TESTING PROJECT, MUTATION DETECTION RATE, CORONARY-HEART-DISEASE, MYOCARDIAL-INFARCTION, PROSPECTIVE REGISTRY, GENETIC CAUSES, DIAGNOSIS|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science|
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