Familial Hypercholesterolemia: A Reportable Disorder.

Familial Hypercholesterolemia: A Reportable Disorder.
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DOI:
10.1161/circulationaha.120.050548
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发表时间:
2020-11-24
期刊:
影响因子:
37.8
通讯作者:
Kullo IJ
Kullo IJ
中科院分区:
医学1区
文献类型:
--
作者:
Kullo IJ

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2020年11月24日流通。2020;142: 1999 - 2001。DOI: 10.1161 / CIRCULATIONAHA。120.050548 2000需要进行级联试验。在英国和荷兰,专门的协调员增加了高危亲属对FH级联检测的参与。4除了向先证者提供信件外,训练有素的级联检测协调员(CTC)可以联系亲属(在先证者同意的情况下),向亲属传递有关FH的信息,并跟进以确保亲属已被告知。为了解决与直接接触有关的伦理问题,可以询问先证者他们更喜欢哪种方法。如果他们希望直接联系,将要求他们提供联系信息,并通知他们的亲属,反恐委员会将与他们联系;如果先证者倾向于亲自与亲属联系,CTC会向先证者提供相关信件,并跟进以确保亲属已被告知(图)。
November 24, 2020 Circulation. 2020; 142: 1999–2001. DOI: 10.1161/CIRCULATIONAHA. 120.050548 2000 the need for cascade testing. Dedicated coordinators increased participation of at-risk relatives in cascade testing for FH in the United Kingdom and The Netherlands. 4 In addition to providing letters to the proband, a trained cascade testing coordinator (CTC) could contact relatives (with the proband’s consent), deliver information to relatives about FH, and follow up to ensure that the relatives have been informed. To address ethical concerns related to direct contact, probands could be asked which method they prefer. If they prefer direct contact, they would be requested to provide contact information and notify their relatives that they would be approached by a CTC; if the proband preferred to personally contact relatives, the CTC would provide the relevant letters to the proband and follow up to ensure that the relatives had been informed (Figure).