Simplified Canadian Definition for Familial Hypercholesterolemia

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Presentation transcript:

Simplified Canadian Definition for Familial Hypercholesterolemia Isabelle Ruel, PhD, Diane Brisson, PhD, Sumayah Aljenedil, MD, Zuhier Awan, MD, PhD, Alexis Baass, MD, MSc, Alexandre Bélanger, BSc, Jean Bergeron, MD, MSc, David Bewick, MD, James M. Brophy, MD, PhD, Liam R. Brunham, MD, PhD, Patrick Couture, MD, PhD, Robert Dufour, MD, MSc, Gordon A. Francis, MD, Jiri Frohlich, MD, Claude Gagné, MD, Daniel Gaudet, MD, PhD, Jean C. Grégoire, MD, Milan Gupta, MD, Robert A. Hegele, MD, G.B. John Mancini, MD, Brian W. McCrindle, MD, Jing Pang, PhD, Paolo Raggi, MD, PhD, Jack V. Tu, MD, PhD, Gerald F. Watts, DSc, MD, Jacques Genest, MD Canadian Journal of Cardiology Volume 34, Issue 9, Pages 1210-1214 (September 2018) DOI: 10.1016/j.cjca.2018.05.015 Copyright © 2018 The Authors Terms and Conditions

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], medication, especially antiretroviral agents); LDL-C ≥ 4.0 mmol/L for age younger than 18 years; and LDL-C ≥ 4.5 mmol/L for age 18 years to younger than 40 years. ** Causal DNA mutation refers to the presence of a known FH-causing variant in the LDLR, APOB, or PCSK9 gene on the basis of the presence of the variant in ClinVar, The Human Gene Mutation Database (HGMD), or Western Database of Lipid Variants (WDLV) databases, in the proband or a first-degree relative. FH diagnosis in a patient with a DNA mutation but normal LDL-C levels is unclear. Yearly follow-up of the proband is suggested and cascade screening of family members should be initiated. Note: In any case, cascade screening should be implemented; treatment decision should be at the discretion of the treating physician. Canadian Journal of Cardiology 2018 34, 1210-1214DOI: (10.1016/j.cjca.2018.05.015) Copyright © 2018 The Authors Terms and Conditions