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 Stock; Erik S Stroes; Lale Tokgözoğlu; Alberico L Catapano

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

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

Lancet Diabetes Endocrinol. 2020 Jan;8(1):50-67. doi: 10.1016/S2213-8587(19)30264-5. Epub 2019 Sep 30.

Authors

Robert A Hegele¹, Jan Borén², Henry N Ginsberg³, Marcello Arca⁴, Maurizio Averna⁵, Christoph J Binder⁶, Laura Calabresi⁷, M John Chapman⁸, Marina Cuchel⁹, Arnold von Eckardstein¹⁰, Ruth Frikke-Schmidt¹¹, Daniel Gaudet¹², G Kees Hovingh¹³, Florian Kronenberg¹⁴, Dieter Lütjohann¹⁵, Klaus G Parhofer¹⁶, Frederick J Raal¹⁷, Kausik K Ray¹⁸, Alan T Remaley¹⁹, Jane K Stock²⁰, Erik S Stroes¹³, Lale Tokgözoğlu²¹, Alberico L Catapano²²

Affiliations

¹ Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada. Electronic address: hegele@robarts.ca.
² Department of Molecular and Clinical Medicine, University of Gothenburg and Sahlgrenska University Hospital, Gothenburg, Sweden.
³ Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.
⁴ Department of Internal Medicine and Allied Sciences, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome, Italy.
⁵ Department of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialities, University of Palermo, Palermo, Italy.
⁶ Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
⁷ Centro Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy.
⁸ National Institute for Health and Medical Research (INSERM), Sorbonne University and Pitié-Salpétrière University Hospital, Paris, France.
⁹ Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
¹⁰ Institute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland.
¹¹ Department of Clinical Medicine, Faculty of Health and Medical Science, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Biochemistry, Rigshospitalet Copenhagen University Hospital, Copenhagen, Denmark.
¹² Clinical Lipidology and Rare Lipid Disorders Unit, Community Genomic Medicine Center, Department of Medicine, Université de Montréal, Montreal, QC, Canada; ECOGENE, Clinical and Translational Research Center, Chicoutimi, QC, Canada; Lipid Clinic, Chicoutimi Hospital, Chicoutimi, QC, Canada.
¹³ Department of Vascular Medicine, Academic Medical Center, Amsterdam, Netherlands.
¹⁴ Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.
¹⁵ Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany.
¹⁶ Medizinische Klinik IV-Grosshadern, University of Munich, Munich, Germany.
¹⁷ Carbohydrate and Lipid Metabolism Research Unit, Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand, Parktown, Johannesburg, South Africa.
¹⁸ Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, Imperial College London, London, UK.
¹⁹ Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
²⁰ European Atherosclerosis Society, Gothenburg, Sweden.
²¹ Department of Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
²² Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan, Italy; IRCCS MultiMedica, Milan, Italy.

PMID: 31582260
DOI: 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 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.

Publication types

Review

MeSH terms

Atherosclerosis / genetics
Atherosclerosis / physiopathology
Atherosclerosis / therapy
Consensus
Disease Management
Dyslipidemias* / genetics
Dyslipidemias* / metabolism
Dyslipidemias* / therapy
Europe
Genetic Predisposition to Disease
Genotype
Humans
Phenotype
Practice Guidelines as Topic
Rare Diseases / genetics
Rare Diseases / physiopathology
Rare Diseases / therapy