Introduction: Familial hypercholesterolemia (FH) is one of the most common monogenic inherited conditions in clinical practice and has a prevalence of about 1 in 500, similar to type 1 diabetes. In the UK over 85% of the estimated 120,000 people who are thought to be affected remain undiagnosed. The National Institute for Health and Clinical Excellence (NICE) has recently developed a clinical guideline for the identification and management of FH 1. This review summarises some of the key controversies appraised by the guideline development group (GDG) in its consideration of the evidence, including assessing the cost-effectiveness of alternative diagnostic and identification strategies and of different low density lipoprotein cholesterol (LDL-C) lowering treatments.
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