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

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

Journal

The lancet. Diabetes & endocrinology
ISSN: 2213-8595
Titre abrégé: Lancet Diabetes Endocrinol
Pays: England
ID NLM: 101618821

Informations de publication

Date de publication:
01 2020
Historique:
received: 20 06 2019
revised: 23 07 2019
accepted: 27 07 2019
pubmed: 5 10 2019
medline: 1 7 2020
entrez: 5 10 2019
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/S2213-8587(19)30264-5 PMID: 31582260
pubmed: 31582260
pii: S2213-8587(19)30264-5
doi: 10.1016/S2213-8587(19)30264-5
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

50-67

Informations de copyright

Copyright © 2020 Elsevier Ltd. All rights reserved.

Auteurs

Robert A Hegele (RA)

Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada. Electronic address: hegele@robarts.ca.

Jan Borén (J)

Department of Molecular and Clinical Medicine, University of Gothenburg and Sahlgrenska University Hospital, Gothenburg, Sweden.

Henry N Ginsberg (HN)

Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.

Marcello Arca (M)

Department of Internal Medicine and Allied Sciences, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome, Italy.

Maurizio Averna (M)

Department of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialities, University of Palermo, Palermo, Italy.

Christoph J Binder (CJ)

Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.

Laura Calabresi (L)

Centro Grossi Paoletti, Dipartimento di Scienze Farmacologiche e Biomolecolari, Università degli Studi di Milano, Milan, Italy.

M John Chapman (MJ)

National Institute for Health and Medical Research (INSERM), Sorbonne University and Pitié-Salpétrière University Hospital, Paris, France.

Marina Cuchel (M)

Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Arnold von Eckardstein (A)

Institute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland.

Ruth Frikke-Schmidt (R)

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.

Daniel Gaudet (D)

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.

G Kees Hovingh (GK)

Department of Vascular Medicine, Academic Medical Center, Amsterdam, Netherlands.

Florian Kronenberg (F)

Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria.

Dieter Lütjohann (D)

Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany.

Klaus G Parhofer (KG)

Medizinische Klinik IV-Grosshadern, University of Munich, Munich, Germany.

Frederick J Raal (FJ)

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.

Kausik K Ray (KK)

Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, Imperial College London, London, UK.

Alan T Remaley (AT)

Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Jane K Stock (JK)

European Atherosclerosis Society, Gothenburg, Sweden.

Erik S Stroes (ES)

Department of Vascular Medicine, Academic Medical Center, Amsterdam, Netherlands.

Lale Tokgözoğlu (L)

Department of Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Alberico L Catapano (AL)

Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan, Italy; IRCCS MultiMedica, Milan, Italy.

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Classifications MeSH

questionsmedicales.fr › Maladies cardiovasculaires › Maladies vasculaires › Artériopathies oblitérantes › Artériosclérose › Athérosclérose › Rare dyslipidaemias, from phenotype to...
questionsmedicales.fr › Phénomènes psychologiques › Processus mentaux › Pensée (activité mentale) › Prise de décision › Consensus › Rare dyslipidaemias, from phenotype to...
questionsmedicales.fr › Administration des services de santé › Gestion des soins aux patients › Prise en charge de la maladie › Rare dyslipidaemias, from phenotype to...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles du métabolisme lipidique › Dyslipidémies › Rare dyslipidaemias, from phenotype to...
questionsmedicales.fr › Régions géographiques › Europe › Rare dyslipidaemias, from phenotype to...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Rare dyslipidaemias, from phenotype to...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Rare dyslipidaemias, from phenotype to...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Rare dyslipidaemias, from phenotype to...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Rare dyslipidaemias, from phenotype to...
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Assurance de la qualité des soins de santé › Recommandations comme sujet › Guides de bonnes pratiques cliniques comme sujet › Rare dyslipidaemias, from phenotype to...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladies rares › Rare dyslipidaemias, from phenotype to...