Lorenzo Andrea De, Silva Juliana Duarte Lopes da, James Cinthia E, Pereira Alexandre C, Moreira Annie Seixas Bello
Instituto Nacional de Cardiologia, Rio de Janeiro, RJ - Brazil.
Laboratório de Genética e Cardiologia Molecular, Instituto do Coração (InCor) - Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP - Brazil.
Arq Bras Cardiol. 2018 Feb;110(2):119-123. doi: 10.5935/abc.20180005.
Familial hypercholesterolemia (FH) is a common autosomal dominant disorder, characterized by a high level of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature cardiovascular disease.
To evaluate clinical and anthropometric characteristics of patients with the familiar hypercholesterolemia (FH) phenotype, with or without genetic confirmation of FH.
Forty-five patients with LDL-C > 190 mg/dl were genotyped for six FH-related genes: LDLR, APOB, PCSK9, LDLRAP1, LIPA and APOE. Patients who tested positive for any of these mutations were considered to have genetically confirmed FH. The FH phenotype was classified according to the Dutch Lipid Clinic Network criteria.
Comparing patients with genetically confirmed FH to those without it, the former had a higher clinical score for FH, more often had xanthelasma and had higher LDL-C and apo B levels. There were significant correlations between LDL-C and the clinical point score for FH (R = 0.382, p = 0.037) and between LDL-C and body fat (R = 0.461, p = 0.01). However, patients with mutations did not have any correlation between LDL-C and other variables, while for those without a mutation, there was a correlation between LDL-C and the clinical point score.
LDL-C correlated with the clinical point score and with body fat, both in the overall patient population and in patients without the genetic confirmation of FH. In those with genetically confirmed FH, there were no correlations between LDL-C and other clinical or biochemical variables in patients.
家族性高胆固醇血症（FH）是一种常见的常染色体显性疾病，其特征是低密度脂蛋白胆固醇（LDL-C）水平升高以及早发性心血管疾病风险高。
评估具有家族性高胆固醇血症（FH）表型的患者的临床和人体测量学特征，无论是否有FH的基因确认。
对45例LDL-C>190mg/dl的患者进行6个与FH相关基因的基因分型：LDLR、APOB、PCSK9、LDLRAP1、LIPA和APOE。检测出这些突变中任何一种呈阳性的患者被认为具有基因确认的FH。FH表型根据荷兰脂质诊所网络标准进行分类。
将基因确认的FH患者与未确认的患者进行比较，前者的FH临床评分更高，更常出现睑黄瘤，且LDL-C和载脂蛋白B水平更高。LDL-C与FH临床评分（R=0.382，p=0.037）以及LDL-C与体脂之间存在显著相关性（R=0.461，p=于基因确认的FH患者，LDL-C与患者的其他临床或生化变量之间无相关性。
在总体患者群体以及未进行FH基因确认的患者中，LDL-C与临床评分和体脂均相关。在基因确认的FH患者中，LDL-C与患者的其他临床或生化变量之间无相关性。
