Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018.

摘要：Familial hypercholesterolemia (FH) is the most common monogenic disorder causing premature atherosclerotic cardiovascular disease. It affects 1 in 250 individuals worldwide, and of the approximately 145,000 Canadians estimated to have FH, most are undiagnosed. Herein, we provide an update of the 2014 Canadian Cardiovascular Society position statement on FH addressing the need for case identification, prompt recognition, and treatment with statins and ezetimibe, and cascade family screening. We provide a new Canadian definition for FH and tools for clinicians to make a diagnosis. The risk of atherosclerotic cardiovascular disease in patients with "definite" FH is 10- to 20-fold that of a normolipidemic individual and initiating treatment in youth or young adulthood can normalize life expectancy. Target levels for low-density lipoprotein cholesterol are proposed and are aligned with the Canadian Cardiovascular Society guidelines on dyslipidemia. Recommendation for the use of inhibitors of proprotein convertase kexin/subtilisin type 9 are made in patients who cannot achieve therapeutic low-density lipoprotein cholesterol targets on maximally tolerated statins and ezetimibe. The writing committee used the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology in the preparation of the present document, which offers guidance for practical evaluation and management of patients with FH. This position statement also aims to raise awareness of FH nationally, and to mobilize patient support, promote knowledge translation, and availability of treatment and health care resources for this under-recognized, but important medical condition.

作者：Liam R,Brunham [1] ; Isabelle,Ruel [2] ; Sumayah,Aljenedil [2] ; Jean-Baptiste,Rivière [2] ; Alexis,Baass [3] ; Jack V,Tu [4] ; G B John,Mancini [5] ; Paolo,Raggi [6] ; Milan,Gupta [7] ; Patrick,Couture [8] ; Glen J,Pearson [6] ; Jean,Bergeron [8] ; Gordon A,Francis [9] ; Brian W,McCrindle [10] ; Katherine,Morrison [11] ; Julie,St-Pierre [12] ; Mélanie,Henderson [13] ; Robert A,Hegele [14] ; Jacques,Genest [15] ; Jeannette,Goguen [16] ; Daniel,Gaudet [17] ; Guillaume,Paré [18] ; Jacques,Romney [19] ; Thomas,Ransom [20] ; Sophie,Bernard [21] ; Pamela,Katz [22] ; Tisha R,Joy [23] ; David,Bewick [24] ; James,Brophy [15]

作者单位：Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada; Centre for Heart Lung Innovation, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address: Liam.brunham@ubc.ca. [1] Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montréal, Quebec, Canada. [2] Department of Medicine, McGill University, Montréal, Quebec, Canada; Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Montréal, Quebec, Canada. [3] Faculty of Medicine, University of Toronto, Institute for Clinical Evaluative Sciences, Schulich Heart Centre, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada. [4] Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada. [5] Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, Alberta, Canada. [6] Department of Medicine, McMaster University, Hamilton, and Canadian Collaborative Research Network, Brampton, Ontario, Canada. [7] Departments of Medicine and Laboratory Medicine, CHU de Québec-Université Laval, Québec City, Quebec, Canada. [8] Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada; Centre for Heart Lung Innovation, University of British Columbia, Vancouver, British Columbia, Canada. [9] Department of Pediatrics, The Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. [10] Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada. [11] Department of Pediatrics, McGill University, Clinique 180, Montréal, Quebec, Canada. [12] Department of Pediatrics, Université de Montréal, CHU Sainte-Justine, Montréal, Quebec, Canada. [13] Departments of Medicine and Biochemistry, Schulich School of Medicine and Robarts Research Institute, Western University, London, Ontario, Canada. [14] Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montréal, Quebec, Canada; Department of Medicine, McGill University, Montréal, Quebec, Canada. [15] Department of Medicine, University of Toronto and Division of Endocrinology, St Michael's Hospital, Toronto Ontario, Canada. [16] Lipidology Unit, Community Genomic Medicine Centre and ECOGENE-21, Department of Medicine, Université de Montréal, Saguenay, Quebec, Canada. [17] Department of Pathology and Molecular Medicine, Department of Clinical Epidemiology and Biostatistics, Population Health Research Institute and Thrombosis and Atherosclerosis Research Institute, Hamilton Health Sciences, McMaster University, Hamilton, Ontario, Canada. [18] Division of Endocrinology and Metabolism, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada. [19] Queen Elizabeth II Health Sciences Centre, Dalhousie University, Halifax, Nova Scotia, Canada. [20] Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Montréal, Quebec, Canada; Department of Medicine, Division of Endocrinology, Université de Montreal, Montréal, Quebec, Canada. [21] Department of Medicine, Section of Endocrinology and Metabolism, University of Manitoba, St Boniface Hospital, Winnipeg, Manitoba, Canada. [22] Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada. [23] Division of Cardiology, Department of Medicine, Dalhousie University, St John, New Brunswick, Canada. [24]

期刊：《The Canadian journal of cardiology》 2018年34卷12期1553-1563页

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