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

Czech version

Authors: Robert; 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 Tokgözo Lu; Alberico L Catapano
Authors‘ workplace: Department of Vascular Medicine, Academic Medical Center, Amsterdam, Netherlands (Prof G K Hovingh MD, Prof E S Stroes MD) ; Department of Molecular and Clinical Medicine, University of Gothenburg and Sahlgrenska University Hospital, Gothenburg, Sweden (Prof J Borén MD) ; and Lipid Clinic, Chicoutimi Hospital, Chicoutimi, QC, Canada (Prof D Gaudet) ; European Atherosclerosis Society, Gothenburg, Sweden (J K Stock PhD) ; Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, Milan, Italy (Prof A L Catapano PhD) ; Medizinische Klinik IV-Grosshadern, University of Munich, Munich, Germany (Prof K G Parhofer MD) ; Imperial Centre for Cardiovascular Disease Prevention, Department of Primary Care and Public Health, Imperial College London, London, UK (Prof K K Ray MD) ; National Institute for Health and Medical Research (INSERM), Sorbonne University and Pitié-Salpétrière University Hospital, Paris, France (Prof M J Chapman DSc) ; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA (M Cuchel MD) ; Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria (Prof C J Binder MD) ; Centro Grossi Paoletti, Dipartimento di Scienze Farmacologichee Biomolecolari, Università degli Studi di Milano, Milan, Italy (Prof L Calabresi PhD) ; Department of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialities, University of Palermo, Palermo, Italy (Prof M Averna MD) ; Department of Internal Medicine and Allied Sciences, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome, Italy (M Arca MD) ; Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA (Prof H N Ginsberg MD) ; Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria (Prof F Kronenberg MD) ; Institute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland (Prof A von Eckardstein MD) ; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany (D Lütjohann PhD) ; Department of Clinical Medicine, Faculty of Health and Medical Science, University of Copenhagen, Copenhagen, Denmark (Prof R Frikke-Schmidt MD) ; 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 (Prof F J Raal MD) ; Department of Clinical Biochemistry, Rigshospitalet Copenhagen University Hospital, Copenhagen, Denmark (Prof R Frikke-Schmidt) ; Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA (Prof A T Remaley MD) ; Clinical Lipidology and Rare Lipid Disorders Unit, Community Genomic Medicine Center, Department of Medicine, Université de Montréal, Montreal, QC, Canada (Prof D Gaudet MD) ; Department of Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey (Prof L Tokgözoğlu MD) ; ECOGENE, Clinical and Translational Research Center (Prof D Gaudet) ; and IRCCS MultiMedica, Milan, Italy (Prof A L Catapano) ; Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (Prof R A Hegele MD)
Published in: AtheroRev 2021; 6(Supplementum 1): 3-18
Category: Guidelines

Overview

Sekvenování genomu a genové terapie jsou slibnými strategiemi, které by měly zkvalitnit péči o pacienty se vzácnými poruchami lipoproteinů a souvisejícími dyslipidemiemi. V praxi je však běžné „poddiagnostikování“ a nedostatečná léčba zejména z důvodu významné interindividuální variability v genetické příčině i výsledném fenotypu. Evropská společnost pro aterosklerózu tedy jmenovala pracovní skupinu, aby vypracovala praktická klinická doporučení zaměřená na pacienty s extrémními (nízkými nebo vysokými) plazmatickými koncentracemi cholesterolu v lipoproteinech o nízké hustotě, triglyceridů nebo cholesterolu v lipoproteinech o vysoké hustotě. Tato doporučení rovněž reflektují nedostatek kvalitních dat o prevalenci a důsledcích těchto onemocnění. Pro zlepšení opatření v péči o pacienty se vzácnými dyslipidemiemi jsou nutné rozsáhlejší registry.

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