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Diagnostic scoring for familial hypercholesterolaemia in practice

Haralambos, Kate; Ashfield-Watt, Pauline; McDowell, Ian F.W.

doi: 10.1097/MOL.0000000000000325
HYPERLIPIDAEMIA AND CARDIOVASCULAR DISEASE: Edited by Paul N. Durrington
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Purpose of review Diagnostic scoring for familial hypercholesterolaemia (FH) can be used either to screen for possible FH or guide the selection of patients for genetic (DNA) testing. We review the published diagnostic criteria and discuss the options for future development.

Recent findings Scoring systems have been developed internationally based on lipid values and various combinations of clinical signs and cardiovascular history. The predictive value varies according to the test population, be it lipid clinic referrals, general population, or relatives of patients with FH. Also, there is increasing recognition of genetic heterogeneity in FH so that criteria are of differing predictive value depending on the genetic variant of FH.

Summary These clinical scoring systems are increasingly used to guide selection of patients for FH genetic testing but no single approach has yet emerged as the system of choice. Further refinement of these scoring tools using more sophisticated calculators are superseding the more manual approaches. These are well suited to web-based tools or smartphone applications.

aCardiff University

bCardiff and Vale University Health Board, Cardiff, UK

Correspondence to Ian F.W. McDowell, Cardiff University School of Medicine, c/o Department of Medical Biochemistry, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK. Tel: +44 02920 743864/744851; e-mail: mcdowell@cardiff.ac.uk

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