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Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement

Journal article
Authors R. A. Hegele
Jan Borén
H. N. Ginsberg
M. Arca
M. Averna
C. J. Binder
L. Calabresi
M. J. Chapman
M. Cuchel
A. von Eckardstein
R. Frikke-Schmidt
D. Gaudet
G. K. Hovingh
F. Kronenberg
D. Lutjohann
K. G. Parhofer
F. J. Raal
K. K. Ray
A. T. Remaley
J. K. Stock
E. S. Stroes
L. Tokgozoglu
A. L. Catapano
Published in Lancet Diabetes & Endocrinology
Volume 8
Issue 1
Pages 50-67
ISSN 2213-8587
Publication year 2020
Published at Institute of Medicine, Department of Molecular and Clinical Medicine
Pages 50-67
Language en
Keywords density-lipoprotein cholesterol, scavenger receptor bi, homozygous, familial hypercholesterolemia, of-function mutations, acyltransferase, deficiency, truncated apolipoprotein, clinical presentation, hdl, cholesterol, lcat deficiency, risk, Endocrinology & Metabolism
Subject categories Endocrinology and Diabetes


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 dinical 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.

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Utskriftsdatum: 2020-08-14