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

6533b7d7fe1ef96bd126860f

RESEARCH PRODUCT

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

Robert A. Hegele Erik S.g. Stroes Frederick J. Raal Marina Cuchel Florian Kronenberg Maurizio Averna Daniel Gaudet M. John Chapman Alan T. Remaley Jane K Stock G. Kees Hovingh Ruth Frikke-schmidt Ruth Frikke-schmidt Christoph J. Binder Kausik K. Ray Lale Tokgozoglu Marcello Arca Alberico L. Catapano Arnold Von Eckardstein Klaus G. Parhofer Laura Calabresi Dieter Lütjohann Jan Borén Henry N. Ginsberg

subject

medicine.medical_specialty Rare dyslipidaemia Consensus Settore MED/09 - Medicina Interna Genotype diagnosis Endocrinology Diabetes and Metabolism MEDLINE 030209 endocrinology & metabolism 610 Medicine & health 03 medical and health sciences 0302 clinical medicine Endocrinology Rare Diseases Genotype 540 Chemistry Internal Medicine medicine geneome sequencing Humans genetics Genetic Predisposition to Disease Rare dyslipidemias; genetics; diagnosis; treatment 030212 general & internal medicine Disease management (health)Intensive care medicine Health policy Dyslipidemias 10038 Institute of Clinical Chemistry treatment business.industry Task force gene therapies Disease Management Atherosclerosis Phenotype 1310 Endocrinology Europe 2712 Endocrinology Diabetes and Metabolism Phenotype 2724 Internal Medicine Practice Guidelines as Topic Rare dyslipidemias European atherosclerosis society lipids (amino acids peptides and proteins)business Quality information

description

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.

year	journal	country	edition	language
2020-01-01

10.1016/s2213-8587(19)30264-5 http://hdl.handle.net/10447/387938