A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy).
Sign Up to like & getrecommendations! Published in 2018 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2018.05.037
Abstract: BACKGROUND AND AIMS Familial hypercholesterolaemia (FH) is an autosomal dominant lipoprotein disorder characterized by significant elevation of low-density lipoprotein cholesterol (LDL-C) and markedly increased risk of premature cardiovascular disease (CVD). Because of the very high… read more here.
Keywords: hypercholesterolaemia; treatment; familial hypercholesterolaemia; strategy ... See more keywords
Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-83392-w
Abstract: Familial hypercholesterolaemia increases circulating LDL-C levels and leads to premature cardiovascular disease when undiagnosed or untreated. Current guidelines support genetic testing in patients complying with clinical diagnostic criteria and cascade screening of their family members.… read more here.
Keywords: machine learning; hypercholesterolaemia; learning modelling; familial hypercholesterolaemia ... See more keywords
Prevalence of SLCO1B1 single nucleotide variations and their association with hypercholesterolaemia in hypercholesterolemic patients in Gauteng, South Africa
Sign Up to like & getrecommendations! Published in 2021 at "Xenobiotica"
DOI: 10.1080/00498254.2021.1945165
Abstract: Abstract Statins, the standard treatment for hypercholesterolaemia, among the most widely prescribed, have been associated with side effects, including statin intolerance. The aim of this study was to determine the background prevalence of SLCO1B1 SNVs… read more here.
Keywords: hypercholesterolaemia; statin intolerance; prevalence; prevalence slco1b1 ... See more keywords
PAEDIATRIC FAMILIAL HYPERCHOLESTEROLAEMIA SCREENING IN EUROPE - PUBLIC POLICY BACKGROUND AND RECOMMENDATIONS.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of preventive cardiology"
DOI: 10.1093/eurjpc/zwac200
Abstract: Familial hypercholesterolaemia (FH) is under-recognized and under-treated in Europe leading to significantly higher risk for premature heart disease in those affected. As treatment beginning early in life is highly effective in preventing heart disease and… read more here.
Keywords: familial hypercholesterolaemia; europe public; hypercholesterolaemia screening; hypercholesterolaemia ... See more keywords
Genomics of familial hypercholesterolaemia.
Sign Up to like & getrecommendations! Published in 2019 at "Current Opinion in Lipidology"
DOI: 10.1097/mol.0000000000000584
Abstract: DOI:10.1097/MOL.0000000000000584 Familial hypercholesterolaemia is an autosomal dominant disorder of lipid metabolism characterized by elevated levels of LDL-C and increased cardiovascular risk. Although the disorder can be diagnosed based on established clinical criteria, only the genetic… read more here.
Keywords: unique variants; medicine; responsible cases; familial hypercholesterolaemia ... See more keywords
Documenting family history in children with hypercholesterolaemia: A lost opportunity
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.13457
Abstract: To determine whether information about a family history of hypercholesterolaemia or early cardiovascular disease was documented by paediatricians in children and adolescents with elevated low‐density lipoprotein (LDL)‐cholesterol levels. read more here.
Keywords: family history; documenting family; hypercholesterolaemia; history children ... See more keywords
Estimation of the prevalence of cholesteryl ester storage disorder in a cohort of patients with clinical features of familial hypercholesterolaemia
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical Biochemistry"
DOI: 10.1177/0004563218793165
Abstract: Background and aim Familial hypercholesterolaemia is caused by variants in the low-density lipoprotein cholesterol metabolic pathway involving LDLR, APOB and PCSK9 genes. A national genetic testing service in Wales, UK has observed that no familial… read more here.
Keywords: hypercholesterolaemia; ester storage; cholesteryl ester; familial hypercholesterolaemia ... See more keywords
Integration of child–parent screening and cascade testing for familial hypercholesterolaemia
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Medical Screening"
DOI: 10.1177/0969141318796856
Abstract: Objective To integrate child–parent screening and cascade testing into a single pathway-child-parent cascade screening (CPCS), for the identification of familial hypercholesterolaemia in the population and to estimate the number of new familial hypercholesterolaemia cases identified… read more here.
Keywords: hypercholesterolaemia; parent screening; familial hypercholesterolaemia; child parent ... See more keywords
Treatment of hypercholesterolaemia with PCSK9 inhibitors in patients after cardiac transplantation
Sign Up to like & getrecommendations! Published in 2019 at "PLoS ONE"
DOI: 10.1371/journal.pone.0210373
Abstract: Background Hypercholesterolaemia is common in patients after cardiac transplantation. Monoclonal antibodies that inhibit proprotein convertase subtilisin-kexin type 9 (PCSK9) reduce low-density lipoprotein (LDL) cholesterol levels and subsequently the risk of cardiovascular events in patients with… read more here.
Keywords: pcsk9 inhibitors; patients cardiac; hypercholesterolaemia; cardiac transplantation ... See more keywords
LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.845498
Abstract: Background: Monogenic familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by elevated low-density lipoprotein cholesterol (LDL-C) concentrations due to monogenic mutations in LDLR, APOB, PCSK9, and APOE. Some mutation-negative patients have a polygenic cause… read more here.
Keywords: ldl concentrations; snp score; hypercholesterolaemia; ethnic groups ... See more keywords
Early Prevention of Atherosclerosis: Detection and Management of Hypercholesterolaemia in Children and Adolescents
Sign Up to like & getrecommendations! Published in 2021 at "Life"
DOI: 10.3390/life11040345
Abstract: Coronary heart disease (CHD) is the main cause of death and morbidity in the world. There is a strong evidence that the atherosclerotic process begins in childhood and that hypercholesterolaemia is a CHD major risk… read more here.
Keywords: detection; hypercholesterolaemia; management hypercholesterolaemia; prevention ... See more keywords