UT Southwestern Medical Center, Dallas, TX, USA.
Department of Internal Medicine, USA; Division of Nutrition and Metabolic Disease, USA; UT Southwestern Medical Center, Dallas, TX, USA.
J Clin Lipidol. 2022 Jul-Aug;16(4):508-515. doi: 10.1016/j.jacl.2022.04.001. Epub 2022 Apr 12.
Familial hypercholesterolemia (FH) remains underdiagnosed and undertreated. The optimal electronic health record (EHR) screening strategy for FH is unclear.
To evaluate an LDL-C threshold-based approach of identifying patients with FH from the EHR to determine the optimal LDL-C range for FH consideration.
Individuals from UT Southwestern Medical Center with an LDL-C level ≥190mg/dL at any time were enrolled in an FH registry. These 5,786 patients were divided into four categories of LDL-C (190- 219, 220 - 249, 250 - 299, and ≥ 300mg/dL) with 100 individuals randomly selected for manual chart review in each category. Chart review included 1) the presence of secondary causes of dyslipidemia, 2) diagnosis of possible/definite FH by modified Simon Broome criteria, and 3) probable/definite FH by modified Dutch Lipid Clinic Network (DLCN) criteria.
Of the 400 individuals with an LDL-C level ≥190mg/dL (mean age 52 years ± 14), the presence of secondary causes increased across each LDL-C category (p < 0.001) with the greatest prevalence in those ≥ 300mg/dL (52%). The prevalence of possible/probable or definite FH also varied by LDL-C category, with the highest prevalence of FH by Simon Broome criteria in the 220 - 249mg/dL category (52%) and by DLCN criteria in the 250 - 299mg/dL category (46%).
Among those with LDL-C ≥ 190mg/dL, the prevalence of secondary causes increased markedly with higher LDL-C, while the diagnosis of FH has a parabolic relationship. Patients with intermediate LDL-C (220 - 299mg/dL) may be the optimal group to prioritize for FH screening.
家族性高胆固醇血症（FH）仍未得到充分诊断和治疗。FH 的最佳电子健康记录（EHR）筛查策略尚不清楚。
评估一种基于 LDL-C 阈值的方法，从 EHR 中识别 FH 患者，以确定考虑 FH 的最佳 LDL-C 范围。
在任何时候 LDL-C 水平≥190mg/dL 的来自德克萨斯西南医学中心的个体被纳入 FH 登记处。这 5786 名患者被分为四个 LDL-C 类别（190-219、220-249、250-299 和≥300mg/dL），每个类别随机选择 100 名个体进行手动图表审查。图表审查包括 1）是否存在血脂异常的继发性原因，2）通过改良 Simon Broome 标准诊断可能/确定的 FH，和 3）通过改良荷兰脂质诊所网络（DLCN）标准诊断可能/确定的 FH。
在 400 名 LDL-C 水平≥190mg/dL 的个体（平均年龄 52 岁±14 岁）中，继发性原因的存在随着 LDL-C 类别而增加（p<0.001），在≥300mg/dL 类别中最为常见（52%）。FH 的患病率也因 LDL-C 类别而异，Simon Broome 标准的 FH 患病率在 220-249mg/dL 类别中最高（52%），而 DLCN 标准的 FH 患病率在 250-299mg/dL 类别中最高（46%）。
在 LDL-C≥190mg/dL 的患者中，继发性原因的患病率随着 LDL-C 的升高而显著增加，而 FH 的诊断呈抛物线关系。具有中间 LDL-C（220-299mg/dL）的患者可能是 FH 筛查的最佳优先群体。
