TY - JOUR
T1 - Rare dyslipidaemias, from phenotype to genotype to management
T2 - a European Atherosclerosis Society task force consensus statement
AU - Hegele, Robert A.
AU - Borén, Jan
AU - Ginsberg, Henry N.
AU - Arca, Marcello
AU - Averna, Maurizio
AU - Binder, Christoph J.
AU - Calabresi, Laura
AU - Chapman, M. John
AU - Cuchel, Marina
AU - von Eckardstein, Arnold
AU - Frikke-Schmidt, Ruth
AU - Gaudet, Daniel
AU - Hovingh, G. Kees
AU - Kronenberg, Florian
AU - Lütjohann, Dieter
AU - Parhofer, Klaus G.
AU - Raal, Frederick J.
AU - Ray, Kausik K.
AU - Remaley, Alan T.
AU - Stock, Jane K.
AU - Stroes, Erik S.
AU - Tokgözoğlu, Lale
AU - Catapano, Alberico L.
PY - 2020/1
Y1 - 2020/1
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.
U2 - 10.1016/S2213-8587(19)30264-5
DO - 10.1016/S2213-8587(19)30264-5
M3 - Review
C2 - 31582260
AN - SCOPUS:85074768982
VL - 8
SP - 50
EP - 67
JO - The Lancet Diabetes & Endocrinology
JF - The Lancet Diabetes & Endocrinology
SN - 2213-8587
IS - 1
ER -