Graça, R.Rossi, N.Alves, A.C.Medeiros, A.Zimon, M.Raush, T.Benes, V.Pepperkok, R.Bourbon, M.2019-04-012019-04-012018-08Atherosclerosis. 2018 Aug;275:e99. doi: 10.1016/j.atherosclerosis.2018.06.2700021-9150http://hdl.handle.net/10400.18/6352Aim: Familial Hypercholesterolemia (FH) is characterized clinically by high LDL plasma concentrations from birth leading to premature atherosclerosis and CHD. Only 40% of the patients enrolled in the Portuguese FH Study carry a putative pathogenic mutation. The remaining individuals may have polygenic forms of dyslipidaemia or mutations in genes not yet associated with FH.engFamilial HypercholesterolemiaDoenças Cardio e Cérebro-vascularesImproving familial dyslipidaemia diagnosisconference object10.1016/j.atherosclerosis.2018.06.270