Cardiovascular Division, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL, USA.
Department of Medicine, University of Miami Hospital/Jackson Memorial Hospital, Miami, FL, USA.
J Clin Lipidol. 2020 Jul-Aug;14(4):414-418. doi: 10.1016/j.jacl.2020.05.001. Epub 2020 May 12.
A classic finding in patients with familial hypercholesterolemia is the presence of markedly elevated levels of total and low-density lipoprotein cholesterol (LDL-C) with an LDL-C concentration of 190 mg/dL or greater. However, severe hypercholesterolemia is not inevitably present, and many patients who carry this diagnosis may have lower LDL-C levels. This case history describes a young woman whose mother and brother met clinical and genetic criteria for heterozygous familial hypercholesterolemia, but who had only a mild elevation in LDL-C, falling to <130 mg/dL after dietary intervention. Despite this finding, genetic testing revealed the presence of the same genetic variants as were noted in her mother and brother. In addition, a second genetic variant predisposing them to cholesterol gallstone formation was identified in all three family members. If genetic testing had not been performed, the diagnosis may have been missed or delayed, resulting in an increased risk for the vascular complications associated with familial hypercholesterolemia. This case supports the value of genetic testing of family members of those with familial hypercholesterolemia, even when LDL-C levels are not severely elevated.
在家族性高胆固醇血症患者中，一个典型的发现是总胆固醇和低密度脂蛋白胆固醇（LDL-C）水平明显升高，LDL-C 浓度为 190mg/dL 或更高。然而，严重的高胆固醇血症并非必然存在，许多患有这种疾病的患者 LDL-C 水平可能较低。本病史描述了一位年轻女性，其母亲和哥哥符合杂合子家族性高胆固醇血症的临床和遗传标准，但 LDL-C 仅轻度升高，经饮食干预后降至<130mg/dL。尽管存在这种情况，但基因检测显示，她的母亲和哥哥所具有的相同基因突变也存在于她身上。此外，在所有三名家庭成员中均发现了第二种导致胆固醇结石形成的遗传变异，这使他们易患该病。如果未进行基因检测，可能会漏诊或延迟诊断，从而增加与家族性高胆固醇血症相关的血管并发症的风险。本病例支持对家族性高胆固醇血症患者的家庭成员进行基因检测，即使 LDL-C 水平不严重升高也是如此。
