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Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018
Liam R. Brunham, MD, PhD, Isabelle Ruel, PhD, Sumayah Aljenedil, MD, Jean-Baptiste Rivière, PhD, Alexis Baass, MD, MSc, Jack V. Tu, MD, PhD, G.B. John Mancini, MD, Paolo Raggi, MD, PhD, Milan Gupta, MD, Patrick Couture, MD, PhD, Glen J. Pearson, PharmD, Jean Bergeron, MD, MSc, Gordon A. Francis, MD, Brian W. McCrindle, MD, MPH, Katherine Morrison, MD, Julie St-Pierre, MD, PhD, Mélanie Henderson, MD, PhD, Robert A. Hegele, MD, Jacques Genest, MD, Jeannette Goguen, MD, Daniel Gaudet, MD, MSc, Guillaume Paré, MD, MSc, Jacques Romney, MD, Thomas Ransom, MD, MSc, Sophie Bernard, MD, PhD, Pamela Katz, MD, Tisha R. Joy, MD, David Bewick, MD, James Brophy, MD, PhD Canadian Journal of Cardiology Volume 34, Issue 12, Pages (December 2018) DOI: /j.cjca Copyright © 2018 Canadian Cardiovascular Society Terms and Conditions
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Figure 1 Canadian definition for the clinical diagnosis of familial hypercholesterolemia (FH). ASCVD, atherosclerotic cardiovascular disease; LDL-C, low-density lipoprotein cholesterol. * Secondary causes of high LDL-C should be ruled out (severe or untreated hypothyroidism, nephrotic syndrome, hepatic disease [biliary cirrhosis], and medication especially antiretroviral agents). ** Causal DNA mutation refers to the presence of a known FH-causing variant in the LDLR, APOB, or PCSK9 gene on the basis of presence of the variant in ClinVar ( the Human Gene Mutation Database ( or Western Database of Lipid Variants ( databases, in the proband or a first-degree relative. Reproduced from Ruel et al.4 with permission from Elsevier. Canadian Journal of Cardiology , DOI: ( /j.cjca ) Copyright © 2018 Canadian Cardiovascular Society Terms and Conditions
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Figure 2 Diagnostic and treatment flow when familial hypercholesterolemia (FH) is suspected. ASCVD, atherosclerotic cardiovascular disease; LDL-C, low-density lipoprotein cholesterol. * LDL-C ≥ 4.0 mmol/L for age younger than 18 years; LDL-C ≥ 4.5 mmol/L for age 18 years and older and younger than 40 years. Canadian Journal of Cardiology , DOI: ( /j.cjca ) Copyright © 2018 Canadian Cardiovascular Society Terms and Conditions
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