Child-Parent Familial Hypercholesterolemia Screening in Primary Care
Child-Parent Familial Hypercholesterolemia Screening in Primary Care
复制标题
DOI：
10.1056/nejmoa1602777
复制
发表时间：
2016-10-27
影响因子：
158.5
通讯作者：
Wald, Nicholas J.
中科院分区：
文献类型：
--
作者：
Wald, David S.;Bestwick, Jonathan P.;Wald, Nicholas J.
研究背景已提出对家族性高胆固醇血症进行儿童父母筛查，以确定遗传性早发心血管疾病的高风险人群。我们评估了这种筛查在初级保健practice. METHODS的有效性和可行性，我们获得了毛细血管血样本，以测量胆固醇水平和测试家族性高胆固醇血症突变在10,095儿童1至2岁的常规免疫接种访问。如果儿童的胆固醇水平升高，并且他们有家族性高胆固醇血症突变或3个月后重复升高的胆固醇水平，则认为他们具有家族性高胆固醇血症的阳性筛查结果。如果每个孩子的父母具有家族性高胆固醇血症的阳性筛查结果，则如果他或她具有与孩子相同的突变，或者如果没有鉴定出突变，则具有父母双方的较高胆固醇水平，则认为他或她具有家族性高胆固醇血症的阳性筛查结果。（MoM，对应于百分位数99.2）确定了28名具有家族性高胆固醇血症阳性筛查结果的儿童（10，095名儿童中的0.3%; 95%置信区间[CI]，0.2至0.4），包括20例家族性高胆固醇血症突变和8例重复胆固醇水平至少为1.53 MoM。共有17名胆固醇水平低于1.53 MoM的儿童也有家族性高胆固醇血症突变。总体突变患病率为1/273（37/10，095; 95%CI，1/198至1/388）。使用1.35 MoM的初始胆固醇临界值（第95百分位数）加上突变，或两个胆固醇值至少为1.50 MoM（第99百分位数），确定了40名儿童谁具有阳性筛选结果的家族性高胆固醇血症（10，095名儿童中的0.4%，包括32名有家族性高胆固醇血症突变的儿童和8名没有突变的儿童）和40名父母谁有阳性的筛查结果家族性高胆固醇血症。CONCLUSIONSHIL-PARTNERS筛查是可行的，在初级保健的做法，在常规的儿童免疫接种访问。在每1000名接受筛查的儿童中，有8人（4名儿童和4名父母）被确定为家族性高胆固醇血症筛查结果阳性，因此处于心血管疾病的高风险中。（由医学研究理事会资助。）
BACKGROUNDChild-parent screening for familial hypercholesterolemia has been proposed to identify persons at high risk for inherited premature cardiovascular disease. We assessed the efficacy and feasibility of such screening in primary care practice.METHODSWe obtained capillary blood samples to measure cholesterol levels and to test for familial hypercholesterolemia mutations in 10,095 children 1 to 2 years of age during routine immunization visits. Children were considered to have positive screening results for familial hypercholesterolemia if their cholesterol level was elevated and they had either a familial hypercholesterolemia mutation or a repeat elevated cholesterol level 3 months later. A parent of each child with a positive screening result for familial hypercholesterolemia was considered to have a positive screening result for familial hypercholesterolemia if he or she had the same mutation as the child or, if no mutations were identified, had the higher cholesterol level of the two parents.RESULTSThe use of a prespecified cholesterol cutoff value of 1.53 multiples of the median (MoM, corresponding to a percentile of 99.2) identified 28 children who had positive screening results for familial hypercholesterolemia (0.3% of the 10,095 children; 95% confidence interval [CI], 0.2 to 0.4), including 20 with a familial hypercholesterolemia mutation and 8 with a repeat cholesterol level of at least 1.53 MoM. A total of 17 children who had a cholesterol level of less than 1.53 MoM also had a familial hypercholesterolemia mutation. The overall mutation prevalence was 1 in 273 children (37 in 10,095; 95% CI, 1 in 198 to 1 in 388). The use of an initial cholesterol cutoff value of 1.35 MoM (95th percentile) plus a mutation, or two cholesterol values of at least 1.50 MoM (99th percentile), identified 40 children who had positive screening results for familial hypercholesterolemia (0.4% of the 10,095 children, including 32 children who had a familial hypercholesterolemia mutation and 8 who did not have the mutation) and 40 parents who had positive screening results for familial hypercholesterolemia.CONCLUSIONSChild-parent screening was feasible in primary care practices at routine child immunization visits. For every 1000 children screened, 8 persons (4 children and 4 parents) were identified as having positive screening results for familial hypercholesterolemia and were consequently at high risk for cardiovascular disease. (Funded by the Medical Research Council.)