Chora, J.R.Iacocca, M.Tichy, L.Wand, H.Kurtz, L.C.Zimmermann, H.Meredith, A.L.Williams, M.Humphries, S.E.Hooper, A.J.Brunham, L.Pereira, A.C.Chen, M.Wang, J.Trinder, M.Jannes, C.E.Chonis, J.Kim, S.Pesaran, T.Johnston, T.Carrie, A.Leigh, S.Hegele, R.A.Sijbrands, E.Freiberger, T.Knowles, J.W.Bourbon, M.2021-04-302021-04-302020-11http://hdl.handle.net/10400.18/7716Familial Hypercholesterolemia (FH): - Lipid metabolism autosomal dominant condition; - Elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since childhood → increased risk of atherosclerotic cardiovascular disease; - High heterozygote prevalence (1/250-1/500); Homozygous rare (1/ 300 000- 1/ 1 000 000); - Caused by pathogenic variants in LDLR (>90%), APOB (5- 10%) and PCSK9 (1-3%) genes; -Marked increase in FH variants submitted to ClinVar; -45% of variants were classified with more than one method and 466 variants submitted with potential clinical significance had conflicting or no classifications.engFamilial HypercholesterolemiaRecommendationsLDLR VariantDoenças Cardio e Cérebro-vascularesconference object