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

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 Kees; Kronenberg, Florian; Lütjohann, Dieter; Parhofer, Klaus G; Raal, Frederick J; Ray, Kausik K; Remaley, Alan T; Stock, Jane K

doi:10.1016/S2213-8587(19)30264-5

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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 & Endocrinology, 8(1), 50–67. https://doi.org/10.1016/S2213-8587(19)30264-5

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