Cascade Screening in Familial Hypercholesterolemia importance in early detection

Leitão, F.; Medeiros, A.M.; Berguete, S.; Alves, A.C.; Bourbon, M.

http://hdl.handle.net/10400.18/1251

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Abstract(s)

Familial hypercholesterolemia (FH) is a genetic condition mainly caused by mutations in LDLR but missense mutations in APOB and PCSK9 can cause similar phenotypes. FH is characterized by increased levels of LDL cholesterol, leading to premature cardiovascular diseases (CVD). Cascade screening (CS) allows the rapid identification of new FH cases within a family. The main goal of this work is to perform CS of FH families and to understand the importance of this approach to identify prematurely individuals that are at risk to develop CVD.

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Ana Margarida Medeiros was funded by Portuguese Society of Cardiology; Ana Catarina Alves was funded by FCT SFRH / BD / 27990 / 2006; project grant FCT_PTDC/SAU-GMG/101874/2008; project grant FCT PIC/IC/83333/2007; project grant from Portuguese Society of Cardiology 2006-2009 and 2010-2012 Porto, November 2012