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

Risultato della ricerca: Article

12 Citazioni (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.
Lingua originaleEnglish
pagine (da-a)50-67
Numero di pagine18
RivistaTHE LANCET DIABETES & ENDOCRINOLOGY
Volume8
Stato di pubblicazionePublished - 2020

All Science Journal Classification (ASJC) codes

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    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.