Santos Raul D
Lipid Clinic Heart Institute (InCor) University of Sao Paulo Medical School Hospital and Preventive Medicine Center and Cardiology Program, Hospital Israelita Albert Einstein, Sao Paulo, Brazil.
Curr Opin Lipidol. 2017 Apr;28(2):130-135. doi: 10.1097/MOL.0000000000000391.
Familial hypercholesterolemia is associated with a high lifetime risk of atherosclerotic cardiovascular disease (ASCVD). However, this risk is variable. This review evaluates recent evidence related to ASCVD risk stratification in familial hypercholesterolemia considering aspects of phenotype and genotype.
The heterogeneity in clinical, laboratory characteristics, and in ASCVD risk in both homozygous and heterozygous familial hypercholesterolemia individuals in part can be attributed to the type of molecular defect. In most individuals with LDL cholesterol more than 190 mg/dl, a familial hypercholesterolemia-causing variant is not encountered, however, when present, a variant implicates an even higher ASCVD risk for such individuals. Previous ASCVD events, elevated blood lipoprotein(a), cutaneous markers of cholesterol deposit are among other factors that indicate a higher ASCVD risk in familial hypercholesterolemia individuals underlying a more severe form of the phenotype.
Both clinical and genetic parameters help identify higher ASCVD risk among severe familial hypercholesterolemia individuals.
家族性高胆固醇血症与动脉粥样硬化性心血管疾病（ASCVD）的高终生风险相关。然而，这种风险是可变的。本综述评估了与家族性高胆固醇血症中ASCVD风险分层相关的最新证据，同时考虑了表型和基因型方面。
纯合子和杂合子家族性高胆固醇血症个体在临床、实验室特征以及ASCVD风险方面的异质性部分可归因于分子缺陷类型。在大多数低密度脂蛋白胆固醇超过190mg/dl的个体中，未发现导致家族性高胆固醇血症的变异，但如果存在变异，则意味着此类个体的ASCVD风险更高。既往ASCVD事件、血液中脂蛋白（a）升高、胆固醇沉积的皮肤标志物等因素表明，家族性高胆固醇血症个体中存在更严重表型时，其ASCVD风险更高。
临床和遗传参数均有助于识别严重家族性高胆固醇血症个体中更高的ASCVD风险。
