Simplified Canadian Definition for Familial Hypercholesterolemia |
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Authors: | Isabelle Ruel Diane Brisson Sumayah Aljenedil Zuhier Awan Alexis Baass Alexandre Bélanger Jean Bergeron David Bewick James M. Brophy Liam R. Brunham Patrick Couture Robert Dufour Gordon A. Francis Jiri Frohlich Claude Gagné Daniel Gaudet Jean C. Grégoire Milan Gupta Jacques Genest |
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Affiliation: | 1. Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montreal, Quebec, Canada;2. Lipidology Unit, Community Genomic Medicine Centre and ECOGENE-21, Department of Medicine, Université de Montréal, Saguenay, Quebec, Canada;3. Department of Clinical Biochemistry, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia;4. Division of Experimental Medicine and Medical Biochemistry, Department of Medicine, McGill University, Quebec, Canada;5. Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Quebec, Canada;6. Lipid Research Centre, CHU de Québec-Université Laval, Québec City, Quebec, Canada;g. Division of Cardiology, Department of Medicine, Dalhousie University, St John, New Brunswick, Canada;h. Department of Medicine, McGill University, Royal Victoria Hospital, Montreal, Quebec, Canada;i. Healthy Heart Program Prevention Clinic, St Paul’s Hospital, Vancouver, British Columbia, Canada, Department of Medicine, University of British Columbia, Vancouver, British Columbia, and Centre for Heart Lung Innovation, Providence Health Care Research Institute, University of British Columbia, Vancouver, British Columbia, Canada;j. Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Quebec, Canada, Department of Nutrition, Université de Montréal, Quebec, Canada;k. Healthy Heart Program Prevention Clinic, St Paul’s Hospital, Vancouver, British Columbia, Canada, Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada;l. Montreal Heart Institute, Montreal, Quebec, Canada;m. McMaster University, Hamilton, Ontario, Canada, Canadian Collaborative Research Network, Brampton, Ontario, Canada;n. Departments of Medicine and Biochemistry, Schulich School of Medicine and Robarts Research Institute, Western University, London, Ontario, Canada;o. Department of Medicine, Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada;p. Division of Cardiology, The Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Ontario, Canada;q. School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Australia;r. Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, Alberta, Canada;s. Faculty of Medicine, University of Toronto, Institute for Clinical Evaluative Sciences, Schulich Heart Centre, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada;t. Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, Perth, Australia |
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Abstract: | Familial hypercholesterolemia (FH) is an autosomal codominant lipoprotein disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease. Definitions for FH rely on complex algorithms that are on the basis of levels of total or LDL-C, clinical features, family history, and DNA analysis that are often difficult to obtain. We propose a novel simplified definition for FH. Definite FH includes: (1) elevated LDL-C (≥ 8.50 mmol/L); or (2) LDL-C ≥ 5.0 mmol/L (for age 40 years or older; ≥ 4.0 mmol/L if age younger than 18 years; and ≥ 4.5 mmol/L if age is between 18 and 39 years) when associated with at least 1 of: (1) tendon xanthomas; or (2) causal DNA mutation in the LDLR, APOB, or PCSK9 genes in the proband or first-degree relative. Probable FH is defined as subjects with an elevated LDL-C (≥ 5.0 mmol/L) and the presence of premature atherosclerotic cardiovascular disease in the patient or a first-degree relative or an elevated LDL-C in a first-degree relative. LDL-C cut points were determined from a large database comprising > 3.3 million subjects. To compare the proposed definition with currently used algorithms (ie, the Simon Broome Register and Dutch Lipid Clinic Network), we performed concordance analyses in 5987 individuals from Canada. The new FH definition showed very good agreement compared with the Simon Broome Register and Dutch Lipid Clinic Network criteria (κ = 0.969 and 0.966, respectively). In conclusion, the proposed FH definition has diagnostic performance comparable to existing criteria, but adapted to the Canadian population, and will facilitate the diagnosis of FH patients. |
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Keywords: | Corresponding author: Dr Isabelle Ruel, Research Institute of the McGill University Health Centre, 1001 Decarie Blvd, Block E, Office E01.2123, Montreal, Quebec H4A 3J1, Canada. Tel.: +1-514-934-1934 ×34852 fax: +1-514-933-6418. |
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