Table of Contents
J. Pers. Med., Volume 8, Issue 3 (September 2018)
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Cover Story (view full-size image) Familial hypercholesterolemia (FH) is a relatively prevalent genetic disorder associated with [...] Read more. Familial hypercholesterolemia (FH) is a relatively prevalent genetic disorder associated with increased risk of coronary heart disease. Early detection and treatment are needed to prevent adverse outcomes such as myocardial infarction and sudden cardiac death. Current guidelines recommend cascade screening of family members of patients with FH. However, the effectiveness of such screening in FH patients who do not have an identifiable pathogenic variant in an FH-related gene is unclear. The authors report the design of a clinical trial to compare the yield of cascade screening and cost effectiveness in FH patients with or without a pathogenic variant, termed the cascade screening in hypercholesterolemia (CASH) study. View this paper.