1. Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement
- Author
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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, 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, Hegele, Robert A, Borén, Jan, Ginsberg, Henry N, Arca, Marcello, Averna, Maurizio, Binder, Christoph J, Calabresi, Laura, Chapman, M John, Cuchel, Marina, von Eckardstein, Arnold, Frikke-Schmidt, Ruth, Gaudet, Daniel, Hovingh, G Kee, Kronenberg, Florian, Lütjohann, Dieter, Parhofer, Klaus G, Raal, Frederick J, Ray, Kausik K, Remaley, Alan T, Stock, Jane K, Stroes, Erik S, Tokgözoğlu, Lale, Catapano, Alberico L, and University of Zurich
- Subjects
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 ,540 Chemistry ,Internal Medicine ,medicine ,geneome sequencing ,Humans ,genetics ,Genetic Predisposition to Disease ,Rare dyslipidemias ,treatment ,030212 general & internal medicine ,Disease management (health) ,Intensive care medicine ,Health policy ,Dyslipidemias ,10038 Institute of Clinical Chemistry ,business.industry ,Task force ,gene therapies ,Disease Management ,Atherosclerosis ,Phenotype ,1310 Endocrinology ,Europe ,2712 Endocrinology, Diabetes and Metabolism ,2724 Internal Medicine ,Practice Guidelines as Topic ,European atherosclerosis society ,lipids (amino acids, peptides, and proteins) ,business ,Quality information - Abstract
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.
- Published
- 2020