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

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

Research output: Contribution to journalArticle

7 Citations (Scopus)

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 & ENDOCRINOLOGY
Volume8
Publication statusPublished - 2020

All Science Journal Classification (ASJC) codes

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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  • Cite this

    Averna, M., Ray, K. K., Hegele, R. A., Kronenberg, F., Hegele, R. A., Gaudet, D., Borén, J., Frikke-Schmidt, R., Ginsberg, H. N., Tokgözoğlu, L., Von Eckardstein, A., Hovingh, G. K., Frikke-Schmidt, R., Cuchel, M., Raal, F. J., Stroes, E. S., Calabresi, L., Lütjohann, D., Parhofer, K. G., ... Chapman, M. J. (2020). Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement. THE LANCET DIABETES & ENDOCRINOLOGY, 8, 50-67.