Journal
CURRENT OPINION IN LIPIDOLOGY
Volume 21, Issue 4, Pages 366-371Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOL.0b013e32833c14e2
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Purpose of review To highlight the unmet need for identifying individuals with familial hypercholesterolaemia and exploring the implications that this will have for local and national healthcare services. Recent findings A pathway utilising DNA testing for the diagnosis of familial hypercholesterolaemia, and subsequent cascade testing has been developed in Wales. Summary Undiagnosed familial hypercholesterolaemia carries a high risk of cardiovascular disease, which is easily preventable with pharmacotherapy, if individuals are appropriately diagnosed, and affected family members identified. The use of DNA testing is cost-effective and allows for efficient cascade testing. This has implications for local services and highlights unmet educational and clinical requirements in clinical lipidology.
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