9 documents found, page 1 of 1
To Correct or not to Correct (for treatment): Estimating Pre-treatment LDL-C Co...
Stevens, C.A.T.; Elshorbagy, A.; Vallejo-Vaz, A.J.; Dharmayat, K.; Lyons, A.; Bourbon, M.; Chora, J.; Humphries, S.E.; Catapano, A.L.; Hovingh, G.Background and Aims: Pretreatment LDL-C measurements aid familial hypercholesterolaemia (FH) diagnosis, and are crucial in epidemiologic studies investigating FH, but are often unavailable because individuals are already on lipid-lowering medication (LLM). Several formulae have been reported to estimate pre-treatment LDL-C in people on LLM by ‘correcting’ their LDL-C concentrations for LLM type and dosage, base...
Recommendations for LDLR variant interpretation by the ClinGen’s Familial Hyper...
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.Familial 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...
Specification of ACMG/AMP guidelines for standardized variant interpretation in...
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.Familial 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.
FH Phenotype: monogenic, polygenic and other causes
Mariano, C.; Alves, A.C.; Medeiros, A.M.; Chora, J.R.; Futema, M.; Humphries, S.E.; Bourbon, M.Familial Hypercholesterolaemia (FH) is a monogenic lipid disorder caused by mutations in LDLR, APOB, and PCSK9 genes. However, 50% of individuals with clinical diagnosis of FH do not have a mutation in one of these three genes, so other causes for their phenotype must exist. The FH phenotype has been associated recently to other monogenic disorders as lysosomal acid lipase deficiency (LALD) and sitosterolaemia ...
The familial hypercholesterolaemia phenotype: monogenic familial hypercholester...
Mariano, C.; Alves, A.C.; Medeiros, A.; Chora, J.R.; Antunes, M.; Futema, M.; Humphries, S.E.; Bourbon, M.Familial Hypercholesterolaemia (FH) is a monogenic disorder characterised by high LDL-C concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH-causing variant is only found in 40-50% of the cases. The aim of this work was to characterise the genetic cause of the FH phenotype in Portuguese clinical FH patients. Methods and Results Between 1999 and 2017, 731 i...
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipida...
Mariano, C.; Medeiros, A.M.; Alves, A.C.; Chora, J.R.; Futema, M.; Humphries, S.E.; Antunes, M.; Bourbon, M.Introduction: (i) Cardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide; (ii) Dyslipidaemia is an important but modifiable cardiovascular risk factor. For instance, Familial Hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk; (iii) ...
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipida...
Mariano, C.; Antunes, M.; Medeiros, A.M.; Alves, A.C.; Futema, M.; Humphries, S.E.; Bourbon, MafaldaFamilial hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk. FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found. The FH phenotype has been associated recently to other monogenic disorders as lysosomal acid lipase deficiency or can have a...
Applicability of the low-density lipoprotein cholesterol gene score in a south ...
Mariano, C.; Futema, M.; Humphries, S.E.; Bourbon, M.Aim: The correct identification of the dyslipidaemia is of great importance in order to implement specific interventions, especially for cardiovascular disease (CVD) prevention. The Global Lipids Genetics Consortium (GLGC) reported 158 loci associated with lipid traits, by genome-wide association studies (GWAS), although practical value of GWAS approach is still a subject of debate, half of these loci are previ...
The applicability of the low-density lipoprotein cholesterol gene score in the ...
Mariano, C.; Futema, M.; Humphries, S.E.; Bourbon, M.Aim: The correct identification of the dyslipidaemia is of great importance in order to implement specific interventions, especially for cardiovascular disease (CVD) prevention. The Global Lipids Genetics Consortium (GLGC) reported 158 loci associated with lipid traits, by genome-wide association studies (GWAS), although practical value of GWAS approach is still a subject of debate, half of these loci are previ...