Haralambos K, Whatley S D, Edwards R, Gingell R, Townsend D, Ashfield-Watt P, Lansberg P, Datta D B N, McDowell I F W
Wales Heart Research Institute, Cardiff University School of Medicine, University Hospital of Wales, Cardiff CF14 4XN, UK.
Wales FH Service c/o Cardiff and Vale University Health Board, UK.
Atherosclerosis. 2015 May;240(1):190-6. doi: 10.1016/j.atherosclerosis.2015.03.003. Epub 2015 Mar 6.
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.
623 patients who presented to lipid clinics across Wales had DNA testing following application of these criteria.
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.
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.
背景/目的：家族性高胆固醇血症（FH）由低密度脂蛋白（LDL）受体途径的基因突变引起。FH的确诊可通过证实致病突变来实现。威尔士FH服务机构制定了评分标准，用于指导对转诊至高胆固醇血症诊所的患者进行DNA检测的选择。这些标准基于对荷兰脂质诊所评分标准的修改，采用了脂质值、体征、过早发生心血管疾病的个人和家族史相结合的方法。其目的是提供临床指导，并以具有成本效益的方式确定资源的使用目标。
威尔士各地脂质诊所的623名患者在应用这些标准后进行了DNA检测。
致病突变患者的比例在评分5分及以下的患者中为4%，在评分15分及以上的患者中高达85%。低密度脂蛋白胆固醇是最强的鉴别因素。根据体征、家族史、冠心病和甘油三酯获得的评分在突变检出率方面也显示出随评分的梯度变化。
这些标准为有FH临床经验的卫生专业人员在应用时指导患者进行DNA检测的选择提供了有用的工具。
