老年家族性高胆固醇血症患者的低密度脂蛋白胆固醇负担：来自真实世界数据的见解
LDL cholesterol burden in elderly patients with familial hypercholesterolemia: Insights from real-world data.
作者信息
Melnes Torunn, Bogsrud Martin P, Christensen Jacob J, Rundblad Amanda, Retterstøl Kjetil, Narverud Ingunn, Aukrust Pål, Halvorsen Bente, Ulven Stine M, Holven Kirsten B
机构信息
Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.
Unit for Cardiac and Cardiovascular Genetics, Department of Medical Genetics, Oslo University Hospital Ullevål, Norway.
出版信息
Am J Prev Cardiol. 2025 Mar 29;22:100986. doi: 10.1016/j.ajpc.2025.100986. eCollection 2025 Jun.
BACKGROUND AND AIMS
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) and increased risk of premature coronary heart disease (CHD). While current LDL-C levels usually guides therapy, the cumulative exposure to LDL-C (the LDL-C burden) is suggested to offer a more precise estimate of cardiovascular risk in people with FH. Therefore, using real-world data, this study aimed to estimate the LDL-C burden at different ages in elderly FH patients with and without CHD, and to assess the LDL-C burden at CHD onset.
METHODS
Data was retrospectively collected from the medical records of elderly (>60 years) FH patients at the Lipid Clinic in Oslo. The LDL-C burden (mM-years) was estimated based on repeated LDL-C measurements and information on lipid-lowering medication. Time-weighted average (TWA) LDL-C was calculated as LDL-C burden divided by years.
RESULTS
We included 112 FH patients, of which 55 (49 %) had experienced at least one CHD-event, and 58 (52 %) were females. Median age at first and last visit were 50 years and 68 years, respectively, with a median of 9 (range; 2-14) available LDL-C measurements. Subjects with CHD had higher LDL-C burden at all ages tested (45, 50 and 60 years) compared with the non-CHD group ( < 0.01, also after adjusting for sex), and had higher TWA LDL-C before treatment at the Lipid Clinic ( = 0.004), but not during follow-up ( = 0.6). There were no sex differences in LDL-C burden at all ages tested, also after adjusting for CHD ( > 0.1). However, women had higher TWA LDL-C during follow-up at the Lipid Clinic ( = 0.01). Median LDL-C burden at CHD onset was 352 mM-years; numerically lower in women than in men (320 vs. 357 mM-years, respectively. = 0.1).
CONCLUSION
Elderly FH patients with CHD had higher estimated LDL-C burden compared with FH patients without CHD, due to higher burden , highlighting the importance of earlydetection and treatment.
背景与目的
家族性高胆固醇血症（FH）是一种遗传性疾病，其特征为低密度脂蛋白胆固醇（LDL-C）升高以及早发冠心病（CHD）风险增加。虽然目前LDL-C水平通常指导治疗，但累积LDL-C暴露量（LDL-C负担）被认为能更精确地估计FH患者的心血管风险。因此，本研究利用真实世界数据，旨在估计有和没有CHD的老年FH患者在不同年龄的LDL-C负担，并评估CHD发病时的LDL-C负担。
方法
回顾性收集奥斯陆脂质门诊老年（>60岁）FH患者的病历数据。基于重复的LDL-C测量值和降脂药物信息估计LDL-C负担（mmol·年）。时间加权平均（TWA）LDL-C计算为LDL-C负担除以年数。
结果
我们纳入了112例FH患者，其中55例（49%）经历过至少一次CHD事件，58例（52%）为女性。首次和末次就诊的中位年龄分别为50岁和68岁，中位有9次（范围：2 - 14次）可用的LDL-C测量值。与无CHD组相比，CHD患者在所有测试年龄（45、50和60岁）的LDL-C负担更高（P<0.01，调整性别后也是如此），且在脂质门诊治疗前的TWA LDL-C更高（P = 0.004），但随访期间无差异（P = 0.6）。在所有测试年龄，调整CHD后LDL-C负担也无性别差异（P>0.1）。然而，女性在脂质门诊随访期间的TWA LDL-C更高（P = 0.01）。CHD发病时的LDL-C负担中位数为352 mmol·年；女性数值上低于男性（分别为320和357 mmol·年，P = 0.1）。
结论
与无CHD的FH患者相比，有CHD的老年FH患者估计的LDL-C负担更高，这归因于更高的负担，凸显了早期检测和治疗的重要性。
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