School of Medicine, University of Western Australia, Perth, Australia (Drs Loh, Pang, Chakraborty, Chan, Hooper, Bell, Burnett, Watts); Department of Endocrinology, Changi General Hospital, Singapore (Dr Loh); Duke-NUS Medical School, Singapore (Dr Loh).
School of Medicine, University of Western Australia, Perth, Australia (Drs Loh, Pang, Chakraborty, Chan, Hooper, Bell, Burnett, Watts).
J Clin Lipidol. 2024 Jan-Feb;18(1):e33-e37. doi: 10.1016/j.jacl.2023.11.007. Epub 2023 Nov 17.
Elevated plasma lipoprotein(a) [Lp(a)] is a common, inherited condition independently causing cardiovascular disease. Recent expert recommendations suggest opportunistically testing for elevated Lp(a) during cascade testing for familial hypercholesterolaemia (FH). We investigated the effectiveness of detecting elevated Lp(a) in 103 children and adolescents who were first-degree relatives of 66 adult index FH cases as part of an established FH cascade screening program. The yield of detection of elevated Lp(a) using a threshold of ≥30 mg/dL in children and adolescents was assessed. Cascade testing from FH index cases with elevated Lp(a) ≥50 mg/dL identified 1 case of Lp(a) ≥30 mg/dL for every 2 children or adolescents tested. In contrast, opportunistic screening from index cases with FH but normal Lp(a) levels demonstrated 1 case of Lp(a) ≥30 mg/dL for every 7.5 children or adolescents tested (p < 0.001). In conclusion, cascade testing for elevated Lp(a) from index cases with FH and elevated Lp(a) is effective in identifying new cases of elevated Lp(a).
血浆脂蛋白(a) [Lp(a)]升高是一种常见的遗传性疾病，可独立导致心血管疾病。最近的专家建议在家族性高胆固醇血症 (FH) 的级联检测中，机会性地检测升高的 Lp(a)。我们调查了在 66 例成年 FH 指数病例的一级亲属中，对 103 名儿童和青少年进行升高的 Lp(a)检测的有效性，这是既定 FH 级联筛查计划的一部分。评估了使用≥30mg/dL 阈值在儿童和青少年中检测升高的 Lp(a)的检出率。从 Lp(a)≥50mg/dL 的 FH 指数病例进行级联检测，每检测 2 名儿童或青少年即可检出 1 例 Lp(a)≥30mg/dL。相比之下，从 FH 但 Lp(a)水平正常的指数病例进行机会性筛查，每检测 7.5 名儿童或青少年即可检出 1 例 Lp(a)≥30mg/dL（p<0.001）。总之，从 Lp(a)升高的 FH 指数病例进行 Lp(a)的级联检测，可有效识别新的 Lp(a)升高病例。
J Am Coll Cardiol. 2019-3-12
Atherosclerosis. 2019-11-29
Am J Prev Cardiol. 2022-4-21
J Med Screen. 2018-10-14
Front Cardiovasc Med. 2025-2-14
Curr Opin Lipidol. 2024-12-1
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