Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales. Issue 1 (May 2015)

• Record Type: Journal Article
• Authors: Haralambos, K.; Whatley, S.D.; Edwards, R.; Gingell, R.; Townsend, D.; Ashfield-Watt, P.; Lansberg, P.; Datta, D.B.N.; McDowell, I.F.W.
• Is Part Of: Atherosclerosis. Volume 240:Issue 1(2015)
• Page Start: 190
• Page End: 196
• Publication Date: 2015-05
• Subjects: Arteriosclerosis -- Periodicals; Electronic journals; 616.136
• DOI: 10.1016/j.atherosclerosis.2015.03.003
• Languages: English
• ISSNs: 0021-9150

Abstract

<abstract xml:lang="en" abstract-type="author" id="abs0010"> <title id="sectitle0010">Abstract</title> <sec> <title id="sectitle0015">Background/Objective</title> <p id="abspara0010">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.</p> </sec> <sec> <title id="sectitle0020">Methods</title> <p id="abspara0015">623 patients who presented to lipid clinics across Wales had DNA testing following application of these criteria.</p> </sec> <sec> <title id="sectitle0025">Results</title> <p id="abspara0020">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.</p> </sec> <sec> <title id="sectitle0030">Conclusion</title> <p id="abspara0025">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.</p> </sec> </abstract>