Chora, Joana R.Iacocca, Michael A.Carrié, AlainFreiberger, TomášLeigh, Sarah E.Defesche, Joep C.Kurtz, C. LisaDiStefano, Marina T.Santos, Raul D.Humphries, Steve E.Mata, PedroJannes, Cinthia E.Hooper, Amanda J.Wilemon, Katherine A.Benlian, PascaleO'Connor, RobertGarcia, JohnWand, HannahTichý, LukášSijbrands, Eric J.Hegele, Robert A.Bourbon, MafaldaKnowles, Joshua W.On behalf of the ClinGen FH Variant Curation Expert Panel2019-02-182019-02-182018-10http://hdl.handle.net/10400.18/5882Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since birth - elevated cardiovascular risk if untreated; High heterozygote prevalence (1/250-500); Homozygous rare (1/300 000-1 000 000); Caused by pathogenic variants in LDLR (>90%), APOB (5-10%) and PCSK9 (1-3%) genes.engFamilial HypercholesterolemiaDoenças Cardio e Cérebro-vascularesconference object