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Practitioner 2011; 255 (1737):25-27

GPs have key role in detecting familial hypercholesterolaemia

23 Feb 2011Pais-up subscribers

Currently the vast majority of people with familial hyper-cholesterolaemia (FH) in the UK remain undiagnosed, probably 85% of the predicted 120,000 cases.In FH families, patients sometimes feel guilty about passing on a defective gene, and there are often concerns about confidentiality surrounding genetic diagnoses. However, in general most people find that knowing the cause of the early heart disease in their family and, more importantly, that the risk can be very significantly reduced by adherence to statins, means that anxiety is easily dealt with and is very shortlived.  It is important that all members of the primary healthcare team have a good working knowledge of the simple Mendelian inheritance of FH, and can explain the elevated risk and how it can be reduced through medication and lifestyle changes.

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