Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry
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- 作者：Rodrigo Alonso ; MD ; PhDa ; b ; rodrigoalonsok@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Jose Luis Dí ; az-Dí ; az ; MD ; PhDc ; Francisco Arrieta ; MDd ; Francisco Fuentes-Jimé ; nez ; MD ; PhDe ; Raimundo de André ; s ; MD ; PhDf ; Pedro Saenz ; MD ; PhDg ; Gema Ariceta ; MDh ; José ; I. Vidal-Pardo ; MD ; PhDi ; Fatima Almagro ; MD ; PhDj ; Rosa Argueso ; MDi ; Pablo Prieto-Matos ; MD ; PhDk ; José ; P. Miramontes ; MD ; PhDl ; Xavier Pintó ; MD ; PhDm ; Johana Rodriguez-Urrego ; MDa ; Leopoldo Perez de Isla ; MD ; PhDa ; n ; Pedro Mata ; MD ; PhDa ; pmata@colesterolfamiliar.org" class="auth_mail" title="E-mail the corresponding author
- 关键词：Homozygous familial hypercholesterolemia ; Coronary artery disease ; Aortic valve stenosis ; Genetic ; LDL apheresis
- 刊名：Journal of Clinical Lipidology
- 出版年：2016
- 出版时间：July-August 2016
- 年：2016
- 卷：10
- 期：4
- 页码：953-961
- 全文大小：308 K
文摘
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HoFH is not restricted to very young patients or those with very high LDL-C levels.
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A wide range of LDL-C levels was seen in HoFH, regardless of LDLR mutation status.
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HoFH patients with null mutations express a more severe phenotype.
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Half of HoFH with genetic status do not met LDL-C values for diagnosis.