• Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Familial hypercholesterolemia (FH) is the most common genetic disorder causing premature cardiovascular disease and death. Heterozygous FH conservatively affects approximately 1:500 Canadians, and the more serious homozygous form affects approximately 1:1,000,000 Canadians, although these numbers might be underestimated. Of approximately 83,500 Canadians estimated to have FH, most are undiagnosed, which represents a simultaneous public health deficit and opportunity, because early treatment of heterozygous FH can normalize life expectancy. Diagnostic algorithms for FH incorporate increased plasma low-density lipoprotein cholesterol, pathognomonic clinical features, and family history of early cardiovascular disease and hyperlipidemia. DNA-based detection of causative mutations in FH-related genes can help with diagnosis. Maximizing diagnosis and treatment of FH in Canada will involve a multipronged approach, including: (1) increasing awareness of FH among health care providers and patients; (2) creating a national registry for FH individuals; (3) setting standards for screening, including cascade screening in affected families; (4) ensuring availability of standard-of-care therapies, in particular optimization of plasma low-density lipoprotein cholesterol levels and timely access to future validated therapies; (5) promoting patient-based support and advocacy groups; and (6) forming alliances with international colleagues, resources, and initiatives that focus on FH. This document aims to raise awareness of FH nationally, and to mobilize knowledge translation, patient support, and availability of treatment and health care resources for this underrecognized, but important medical condition. Copyright © 2014 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
    The Canadian journal of cardiology 12/2014; 30(12):1471-81. DOI:10.1016/j.cjca.2014.09.028 · 3.94 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Context: Cardiovascular disease is a leading cause of morbidity and mortality. Early identification and treatment of risk factors that accelerate this condition are paramount to preventing disease. To this effect, the National Heart Lung and Blood Institute (NHLBI), endorsed by the American Academy of Pediatrics, issued updated pediatric guidelines for cardiovascular (CV) risk reduction in 2011. Integration of these guidelines into pediatric practice may lessen cardiovascular morbidity. Evidence Acquisition: In addition to reviewing the NHLBI guidelines, a detailed literature search was performed on Pub Med for clinical studies published between 2010-2013. Key search terms included pediatric dyslipidemia/hyperlipidemia, cardiovascular disease, atherosclerosis, familial hypercholesterolemia, hypertriglyceridemia, and diabetes. Additional citations from these publications were also reviewed. Final publications were selected for their relevance to the topic. Evidence Synthesis: These guidelines contain several important recommendations relative to lipid management, including screening all children with nonfasting non-HDL- C at ages 9-11 years, incorporation of aggressive lifestyle changes to meet cholesterol targets, and initiation of statin therapy for those with LDL-C elevation. In addition, both type 1 and type 2 diabetes are now considered high risk conditions and have stringent cholesterol targets. The primary aim is early identification of children with familial hypercholesterolemia; however, these recommendations have met with some controversy. The purpose of this update is to summarize these recent lipid guidelines, present the relevant controversies, highlight common cholesterol disorders, and discuss dyslipidemia specific to the pediatric diabetes population. Conclusion: Identification and treatment of youth with dyslipidemia is of paramount importance to the reduction of future cardiovascular disease. Increasing the comprehension and application of the newest NHLBI guidelines is critical to improving CV outcomes.
    Journal of Clinical Endocrinology &amp Metabolism 05/2014; 99(9):jc20133860. DOI:10.1210/jc.2013-3860 · 6.31 Impact Factor