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Familial hypercholesterolaemia (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 United Kingdom 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.
DIAGNOSIS OF FH
The clinical diagnosis of FH is based on personal and family history, physical examination and cholesterol concentrations. Three groups have developed clinical diagnostic tools for FH: the UK Simon Broome Register Group,2 the US MedPed Program3 and the Dutch Lipid Clinic Network.4 The Simon Broome Register criteria include cholesterol concentrations, clinical characteristics, DNA diagnosis and family history2 (box 1). The Dutch Lipid Clinic Network criteria4 use a scoring system that is effectively similar to the Simon Broome Register criteria, while the MedPed criteria use different cholesterol thresholds for different age groups and first-degree and second-degree affected relatives.3
The major difference between these systems is the use of different cut-offs for premature coronary heart disease (CHD). The Simon Broome group recommends the use of CHD <60 years in first-degree relatives and <50 years in second-degree relatives.2 The Medped criteria recommend a cut-off at age 65,3 while the Dutch suggest <55 years for men and <65 years for women.4 The GDG decided that the Simon Broome criteria should be recommended for making a clinical diagnosis because they are developed from a UK cohort …
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