Bilen Ozlem, Pokharel Yashashwi, Ballantyne Christie M
Department of Medicine, Baylor College of Medicine, 3131 Fannin Street, Houston, TX 77030, USA.
Section of Cardiovascular Research, Department of Medicine, Baylor College of Medicine, 6565 Fannin Street, Suite B157, Houston, TX 77030, USA; Center for Cardiovascular Disease Prevention, Methodist DeBakey Heart and Vascular Center, 6565 Fannin Street, M.S. A-601, Houston, TX 77030, USA.
Cardiol Clin. 2015 May;33(2):267-75. doi: 10.1016/j.ccl.2015.02.006.
Hereditary dyslipidemias are often underdiagnosed and undertreated, yet with significant health implications, most importantly causing preventable premature cardiovascular diseases. The commonly used clinical criteria to diagnose hereditary lipid disorders are specific but are not very sensitive. Genetic testing may be of value in making accurate diagnosis and improving cascade screening of family members, and potentially, in risk assessment and choice of therapy. This review focuses on using genetic testing in the clinical setting for lipid disorders, particularly familial hypercholesterolemia.
遗传性血脂异常常常诊断不足且治疗不充分，但却有着重大的健康影响，最重要的是会导致可预防的早发性心血管疾病。用于诊断遗传性血脂紊乱的常用临床标准具有特异性，但灵敏度不高。基因检测在准确诊断、改善对家庭成员的级联筛查以及潜在的风险评估和治疗选择方面可能具有价值。本综述重点关注在临床环境中对血脂紊乱，特别是家族性高胆固醇血症进行基因检测。
