Department of Internal Medicine, Beilinson Hospital, Rabin Medical Center, Petah Tikva, Israel.
Clalit Research Institute.
QJM. 2020 Jun 1;113(6):411-417. doi: 10.1093/qjmed/hcz327.
Familial hypercholesterolemia (FH) is an under-diagnosed condition.
We applied standard laboratory criteria across a large longitudinal electronic medical record database to describe cross-sectional population with possible FH.
A cross-sectional study of Clalit Health Services members. Subjects who met the General Population MED-PED laboratory criteria, excluding: age <10 years, documentation of thyroid, liver, biliary or autoimmune diseases, a history of chronic kidney disease stage 3 or greater, the presence of urine protein >300 mg/l, HDL-C>80 mg/dl, active malignancy or pregnancy at the time of testing were considered possible FH. Demographic and clinical characteristics are described at time of diagnosis and at a single index date following diagnosis to estimate the burden on the healthcare system. The patient population is also compared to the general population.
The study cohort included 12 494 subjects with out of over 4.5 million members of Clalit Health Services. The estimated prevalence of FH in Israel was found to be 1:285. These patients are notably positive for, and have a family history of, cardiovascular disease and risk factors. For most of them the LDL-C levels are not controlled, and only a quarter of them are medically treated.
By using the modified MED-PED criteria in a large electronic database, patients with possible FH can be identified enabling early intervention and treatment.
家族性高胆固醇血症(FH)是一种未被充分诊断的病症。
我们在一个大型的纵向电子病历数据库中应用标准实验室标准,以描述可能患有 FH 的横断面人群。
对 Clalit 健康服务成员进行横断面研究。符合一般人群 MED-PED 实验室标准的受试者,但排除以下情况:年龄<10 岁、有甲状腺、肝脏、胆道或自身免疫性疾病病史、慢性肾脏病 3 期或更严重疾病史、尿液蛋白>300mg/l、HDL-C>80mg/dl、在检测时患有活动性恶性肿瘤或妊娠的人被认为可能患有 FH。描述诊断时和诊断后的单一索引日期的人口统计学和临床特征,以估计对医疗保健系统的负担。还将患者人群与一般人群进行比较。
该研究队列包括 12494 名受试者,他们是超过 450 万 Clalit 健康服务成员中的一部分。以色列 FH 的估计患病率为 1:285。这些患者明显存在心血管疾病和危险因素,且有家族病史。他们中的大多数 LDL-C 水平没有得到控制,只有四分之一的人接受了药物治疗。
通过在大型电子数据库中使用改良的 MED-PED 标准,可以识别出可能患有 FH 的患者,从而实现早期干预和治疗。