Can J Cardiol. 2018 Dec;34(12):1553-1563. doi: 10.1016/j.cjca.2018.09.005.
Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018.
Brunham LR1, Ruel I2, Aljenedil S2, Rivière JB2, Baass A3, Tu JV4, Mancini GBJ5, Raggi P6, Gupta M7, Couture P8, Pearson GJ6, Bergeron J8, Francis GA9, McCrindle BW10, Morrison K11, St-Pierre J12, Henderson M13, Hegele RA14, Genest J15, Goguen J16, Gaudet D17, Paré G18, Romney J19, Ransom T20, Bernard S21, Katz P22, Joy TR23, Bewick D24, Brophy J15.
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.