TY - JOUR
T1 - Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement
AU - Averna, Maurizio
AU - Ray, Kausik K
AU - Hegele, Robert A
AU - Kronenberg, Florian
AU - Remaley, Alan T
AU - Hegele, Robert A
AU - Gaudet, Daniel
AU - Borén, Jan
AU - Frikke-Schmidt, Ruth
AU - Ginsberg, Henry N
AU - Tokgözoğlu, Lale
AU - Von Eckardstein, Arnold
AU - Hovingh, G Kees
AU - Frikke-Schmidt, Ruth
AU - Cuchel, Marina
AU - Raal, Frederick J
AU - Stroes, Erik S
AU - Calabresi, Laura
AU - Lütjohann, Dieter
AU - Parhofer, Klaus G
AU - Catapano, Alberico L
AU - Remaley, Alan T
AU - Arca, Marcello
AU - Binder, Christoph J
AU - Von Eckardstein, Arnold
AU - Stock, Jane K
AU - Chapman, M John
PY - 2020
Y1 - 2020
N2 - Genome sequencing and gene-based therapies appear poised to advance the management of rare lipoprotein disorders and associated dyslipidaemias. However, in practice, underdiagnosis and undertreatment of these disorders are common, in large part due to interindividual variability in the genetic causes and phenotypic presentation of these conditions. To address these challenges, the European Atherosclerosis Society formed a task force to provide practical clinical guidance focusing on patients with extreme concentrations (either low or high) of plasma low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol. The task force also recognises the scarcity of quality information regarding the prevalence and outcomes of these conditions. Collaborative registries are needed to improve health policy for the care of patients with rare dyslipidaemias.
AB - Genome sequencing and gene-based therapies appear poised to advance the management of rare lipoprotein disorders and associated dyslipidaemias. However, in practice, underdiagnosis and undertreatment of these disorders are common, in large part due to interindividual variability in the genetic causes and phenotypic presentation of these conditions. To address these challenges, the European Atherosclerosis Society formed a task force to provide practical clinical guidance focusing on patients with extreme concentrations (either low or high) of plasma low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol. The task force also recognises the scarcity of quality information regarding the prevalence and outcomes of these conditions. Collaborative registries are needed to improve health policy for the care of patients with rare dyslipidaemias.
UR - http://hdl.handle.net/10447/387938
M3 - Article
SN - 2213-8587
VL - 8
SP - 50
EP - 67
JO - THE LANCET DIABETES & ENDOCRINOLOGY
JF - THE LANCET DIABETES & ENDOCRINOLOGY
ER -