Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)
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DOI：
10.1016/j.atherosclerosissup.2017.07.001
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发表时间：
2017-10-01
影响因子：
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通讯作者：
Tarugi, Patrizia
中科院分区：
文献类型：
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作者：
Averna, Maurizio;Cefalu, Angelo B.;Tarugi, Patrizia
背景和目的：原发性血脂异常是一组以循环脂蛋白水平异常为特征的异质性疾病。其中，家族性高胆固醇血症是最常见的脂质紊乱，易患早发性心血管疾病。我们建立了一个意大利全国性的网络，旨在促进遗传性血脂异常的临床和遗传学诊断命名LIPIGEN（LIPID运输障碍意大利遗传网络）。方法：观察性，多中心，回顾性和前瞻性研究，涉及约40个意大利临床中心。在作为全国DNA诊断中心的六个分子诊断实验室之一进行适当候选基因的基因检测。结果和结论：从2012年到2016年10月，根据荷兰脂质临床网络（DLCN）评分确定的3480例家族性高胆固醇血症受试者的可用生化和临床信息被纳入数据库，并在97.8%的受试者中进行了遗传分析。的受试者，DLCN评分≥ 6的患者突变检出率为92.0%。LIPIGEN网络的建立将对临床管理产生重要影响，并将改善意大利原发性血脂异常的整体识别和治疗。(C)2017作者出版社：Elsevier爱尔兰Ltd.
Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network).Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers.Results and conclusions: From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score >= 6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy. (C) 2017 The Authors. Published by Elsevier Ireland Ltd.