Chakraborty Anindita, Chan Dick C, Ellis Katrina L, Pang Jing, Barnett Wendy, Woodward Ann Marie, Vorster Mary, Norman Richard, Moses Eric K, Watts Gerald F
Medical School, University of Western Australia, Perth, Western Australia, Australia.
Lipid Disorders Clinic, Department of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Western Australia, Australia.
Am J Prev Cardiol. 2022 Apr 21;10:100343. doi: 10.1016/j.ajpc.2022.100343. eCollection 2022 Jun.
OBJECTIVE: Elevated lipoprotein(a) [Lp(a)] is a common inherited condition associated with cardiovascular disease. This study investigated whether cascade testing for Lp(a) was effective in detecting new cases of elevated Lp(a) in families. METHODS: Relatives from adult probands with Lp(a) concentration ≥100 mg/dL were tested for elevated Lp(a) (≥50 mg/dL) via a cascade testing program in a tertiary hospital setting. The prevalence and yield of detecting new cases of elevated Lp(a) among the relatives were assessed. RESULTS: Of the 83 probands, 43.4% had familial combined hyperlipidemia (FCHL) and 34.9% common hypercholesterolemia (CH). Among 182 relatives tested (151 adults and 31 children), elevated Lp(a) was found in 68.1%, with 32.9% having Lp(a) between 50 and 99 mg/dL and 35.2% having Lp(a) ≥100 mg/dL. One new case of elevated Lp(a) ≥50 mg/dL was identified for every 1.5 relatives tested and 1 new case of elevated Lp(a) ≥100 mg/dL for every 2.8 relatives tested. The proportion of relatives detected with elevated Lp(a) was significantly higher when tested from probands with Lp(a) >150 mg/dL compared with those with Lp(a) between 100 and 150 mg/dL (81.1% vs. 55.5%; = 0.001). The concordance rates (kappa coefficient) for the detection of elevated Lp(a) with FCHL and CH were 34.8% (0.026) and 53.2% (0.099), respectively. CONCLUSION: Cascade testing for elevated Lp(a) from affected probands with phenotypic dyslipidemia is highly effective in identifying new cases of high Lp(a) in families. The yield of detecting elevated Lp(a) is greater when probands have higher levels of Lp(a) and exceeds the detection of relatives with FCHL and CH.
目的：脂蛋白(a)[Lp(a)]升高是一种与心血管疾病相关的常见遗传病症。本研究调查了对Lp(a)进行级联检测在发现家族中Lp(a)升高的新病例方面是否有效。 方法：通过一家三级医院的级联检测程序，对Lp(a)浓度≥100mg/dL的成年先证者的亲属进行Lp(a)升高（≥50mg/dL）检测。评估亲属中检测到Lp(a)升高新病例的患病率和检出率。 结果：在83名先证者中，43.4%患有家族性混合型高脂血症（FCHL），34.9%患有普通高胆固醇血症（CH）。在接受检测的182名亲属（151名成年人和31名儿童）中，68.1%的人Lp(a)升高，其中32.9%的人Lp(a)在50至99mg/dL之间，35.2%的人Lp(a)≥100mg/dL。每检测1.5名亲属就可发现1例Lp(a)≥50mg/dL的新病例，每检测2.8名亲属就可发现1例Lp(a)≥100mg/dL的新病例。与Lp(a)在100至150mg/dL之间的先证者相比，Lp(a)>150mg/dL的先证者检测出Lp(a)升高的亲属比例显著更高（81.1%对5
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