家族性高胆固醇血症的级联筛查必须继续进行。
Cascade screening of familial hypercholesterolemia must go on.
作者信息
Galema-Boers J M H, Versmissen J, Roeters van Lennep H W O, Dusault-Wijkstra J E, Williams M, Roeters van Lennep J E
机构信息
Pharmacology, Vascular and Metabolic Diseases Section of the Department of Internal Medicine and Pediatrics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
Pharmacology, Vascular and Metabolic Diseases Section of the Department of Internal Medicine and Pediatrics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
出版信息
Atherosclerosis. 2015 Oct;242(2):415-7. doi: 10.1016/j.atherosclerosis.2015.07.020. Epub 2015 Jul 11.
PURPOSE
This study assesses the success of the recently terminated Dutch nationwide cascade screening by examining whether children with familial hypercholesterolemia (FH) were identified through family screening or due to cardiovascular (CVD) events in the FH parent.
METHODS
We collected clinical information of all children (0-18 years) with FH with a pathogenic variant at our outpatient lipid clinic between 1992 and 2014 and their FH parents and FH grandparents.
RESULTS
We analysed 292 FH children from 205 parents with FH. A history of premature CVD was present in 20% of the parents (29% of the fathers, 9% of the mothers) and 49% of the FH grandparents.
CONCLUSION
The fact that CVD is still a presenting event of FH in especially fathers shows that nationwide screening might have been terminated too early. Therefore we recommend to proceed the cascade screening.
目的
本研究通过检查家族性高胆固醇血症（FH）患儿是通过家族筛查被识别，还是由于FH患儿父母发生心血管（CVD）事件而被识别，来评估最近终止的荷兰全国性级联筛查的成效。
方法
我们收集了1992年至2014年间在我们门诊血脂诊所确诊的所有携带致病变异的FH患儿（0至18岁）及其FH患儿父母和FH患儿祖父母的临床信息。
结果
我们分析了来自205名FH患儿父母的292名FH患儿。20%的父母（29%的父亲，9%的母亲）和49%的FH患儿祖父母有过早发生CVD的病史。
结论
尤其是在父亲中，CVD仍是FH的首发事件，这一事实表明全国性筛查可能终止得太早。因此，我们建议继续进行级联筛查。
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