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Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales

Haralambos, Kate ORCID:, Whatley, S.D., Edwards, R., Gingell, R., Townsend, D., Ashfield-Watt, Pauline Annie L., Lansberg, P., Datta, D.B.N. and McDowell, Ian Frederick 2015. Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales. Atherosclerosis 240 (1) , pp. 190-196. 10.1016/j.atherosclerosis.2015.03.003

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Background/Objective Familial Hypercholesterolaemia (FH) is caused by mutations in genes of the Low Density Lipoprotein (LDL) receptor pathway. A definitive diagnosis of FH can be made by the demonstration of a pathogenic mutation. The Wales FH service has developed scoring criteria to guide selection of patients for DNA testing, for those referred to clinics with hypercholesterolaemia. The criteria are based on a modification of the Dutch Lipid Clinic scoring criteria and utilise a combination of lipid values, physical signs, personal and family history of premature cardiovascular disease. They are intended to provide clinical guidance and enable resources to be targeted in a cost effective manner. Methods 623 patients who presented to lipid clinics across Wales had DNA testing following application of these criteria. Results The proportion of patients with a pathogenic mutation ranged from 4% in those scoring 5 or less up to 85% in those scoring 15 or more. LDL-cholesterol was the strongest discriminatory factor. Scores gained from physical signs, family history, coronary heart disease, and triglycerides also showed a gradient in mutation pick-up rate according to the score. Conclusion These criteria provide a useful tool to guide selection of patients for DNA testing when applied by health professionals who have clinical experience of FH.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Uncontrolled Keywords: Familial Hypercholesterolaemia; Genetics; Cholesterol; Diagnosis; Criteria
Publisher: Elsevier
ISSN: 0021-9150
Date of Acceptance: 5 March 2015
Last Modified: 31 Oct 2022 10:23

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