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

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

Research output: Contribution to journalReview article

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.

Original languageEnglish
Pages (from-to)50-67
Number of pages18
JournalThe Lancet Diabetes and Endocrinology
Volume8
Issue number1
DOIs
Publication statusPublished - Jan 2020

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    Hegele, R. A., Borén, J., Ginsberg, H. N., Arca, M., Averna, M., Binder, C. J., Calabresi, L., Chapman, M. J., Cuchel, M., von Eckardstein, A., Frikke-Schmidt, R., Gaudet, D., Hovingh, G. K., Kronenberg, F., Lütjohann, D., Parhofer, K. G., Raal, F. J., Ray, K. K., Remaley, A. T., ... Catapano, A. L. (2020). Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement. The Lancet Diabetes and Endocrinology, 8(1), 50-67. https://doi.org/10.1016/S2213-8587(19)30264-5