Iacocca, M.A.Chora, J.R.Freiberger, T.Carrie, A.Sijbrands, E.J.Wand, H.Williams, M.Kurtz, C.L.Tichy, L.Alves, A.C.Zimmermann, H.Meredith, A.Wang, J.Cuchel, M.Hooper, A.J.Humphries, S.E.Defesche, J.C.Santos, R.D.Kullo, I.J.Brunham, L.R.Hegele, R.A.Knowles, J.W.Bourbon, M.2021-04-232021-04-232020-10http://hdl.handle.net/10400.18/7695Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since childhood → increased risk of atherosclerotic cardiovascular disease; High heterozygote prevalence (1/250); Homozygous rare (1/1 000 000); Caused by pathogenic variants in LDLR (>90%), APOB (5-10%) and PCSK9 (1-3%) genes.engFamilial HypercholesterolemiaGuidelinesDoenças Cardio e Cérebro-vascularesSpecification of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia: On behalf of the ClinGen FH Variant Curation Expert Panelconference object