Rare Dyslipidaemias: From Phenotype to Genotype to Management. A European Atherosclerosis Society Task Force Consensus Statement

European Atherosclerosis Society (EAS)

Publication in full

• The Lancet Diabetes & Endocrinology 2019;
  DOI:https://doi.org/10.1016/S2213-8587(19)30264-5
  https://www.thelancet.com/journals/landia/article/PIIS2213-8587(19)30264-5/fulltext

Authors

Hegele RA, Borén J, Ginsberg HN, Arca M, Averna M, Binder C, Calabresi L, Chapman MJ, Cuchel M, von Eckardstein A, Frikke-Schmidt R, Gaudet D, Hovingh GK, Kronenberg F, Lütjohann D, Parhofer KG, Raal FJ, Ray KK, Remaley AT, Stock JK, Stroes ES, Tokgözoglu L, Catapano AL.

Summary

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.

Press release

Breaking news - Rare lipid disorder Task Force statement published by Jane K. Stock