Medeiros, A.M.Alves, A.C.Bourbon, M.2013-02-112013-02-112012-11http://hdl.handle.net/10400.18/1250Ana 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 2010-2012Familial hypercholesterolemia (FH) is an autossomal dominant disorder associated with high levels of plasma cholesterol with a frequency of 1/500 heterozygous 1/1million homozygous. The increased level of circulating LDL cholesterol leads to lipid accumulation in tendons (xanthomas) and arteries, accelerating the process of atherosclerosis and increased risk of premature coronary heart disease (pCHD). FH is mainly due to loss of function mutations LDLR gene or APOB gene. Gain of function mutations in PCSK9 gene, or even in others genes yet to be described, are a rare cause of FHengDoenças Cardio e Cérebro-vascularesconference object