Department of Diagnostic Imaging of Polish Mother's Memorial Hospital Research Institute, 281/289 Rzgowska Street, 93-338, Lodz, Poland.
Department of Pediatrics and Immunology with Nephrology Unit of Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Lipids Health Dis. 2020 Jul 14;19(1):169. doi: 10.1186/s12944-020-01335-2.
Familial hypercholesterolemia (FH) increases the risk of atherosclerosis in children and adults. Atherosclerotic cardiovascular disease in young patients FH is usually subclinical but recognition of children with more pronounced changes is crucial for adjusting effective management. Aim of this research was to use ultrasonography with two-dimensional speckle tracking (2DST) and tonometry to evaluate atherosclerotic changes in patients with FH (parents and their offspring).
Applanation tonometry and carotid arteries sonography with evaluation of the intima-media complex thickness (IMCT) and application of the 2DST were performed in 20 families with FH (20 parents and 29 children). The same size control group (age and sex matched) was included. Results were compared between peers and between generations together with the correlation analysis.
Adults with FH, in comparison with healthy peers, presented significantly more atherosclerotic plaques (9 vs. 2, p = 0.0230), had significantly thicker IMC (0.84 ± 0.19 vs. 0.56 ± 0.06 mm, p < 0.0001) and had stiffer arterial wall (for stain: 6.25 ± 2.3 vs. 8.15 ± 2.46, p = 0.0103). In children from both groups there were no atherosclerotic plaques and IMCT did not differ significantly (0.42 ± 0.07 vs. 0.39 ± 0.04, p = 0.1722). However, children with FH had significantly stiffer arterial wall according to 2DST (for strain: 9.22 ± 3.4 vs. 11.93 ± 3.11, p = 0.0057) and tonometry (for the pulse wave velocity: 4.5 ± 0.64 vs.3.96 ± 0.62, p = 0.0047). These parameters correlated with atherosclerosis surrogates in their parents (p < 0.001) but were not significantly affected by presence of presumed pathogenic gene variant.
Children with FH presented subclinical atherosclerosis manifested as decreased arterial wall elasticity. Degree of stiffening was associated with advancement of atherosclerosis in their parents but did not present significant association with gene variants. Sonography with application of 2DST seems to be a good candidate for comprehensive evaluation of atherosclerosis in families with FH.
家族性高胆固醇血症（FH）会增加儿童和成人患动脉粥样硬化的风险。年轻患者 FH 的动脉粥样硬化性心血管疾病通常是亚临床的，但识别出变化更明显的儿童对于调整有效的管理至关重要。本研究的目的是使用二维斑点追踪（2DST）和眼压测量法评估 FH 患者（父母及其后代）的动脉粥样硬化变化。
对 20 个 FH 家族（20 名父母和 29 名儿童）进行了平板眼压测量和颈动脉超声检查，评估了内膜中层厚度（IMCT）和 2DST 的应用。纳入了相同大小的对照组（年龄和性别匹配）。将同龄人之间和代际之间的结果进行了比较，并进行了相关性分析。
与健康同龄人相比，FH 成年人的动脉粥样硬化斑块明显更多（9 例比 2 例，p=0.0230），IMC 明显更厚（0.84±0.19 毫米比 0.56±0.06 毫米，p<0.0001），动脉壁更硬（应变比：6.25±2.3 比 8.15±2.46，p=0.0103）。两组儿童均无动脉粥样硬化斑块，IMCT 无显著差异（0.42±0.07 毫米比 0.39±0.04 毫米，p=0.1722）。然而，FH 儿童的动脉壁明显更硬，根据 2DST（应变比：9.22±3.4 比 11.93±3.11，p=0.0057）和眼压测量（脉搏波速度：4.5±0.64 毫米/秒比 3.96±0.62 毫米/秒，p=0.0047）。这些参数与父母的动脉粥样硬化替代标志物相关（p<0.001），但不受假定致病性基因突变的显著影响。
FH 儿童表现出亚临床动脉粥样硬化，表现为动脉壁弹性降低。僵硬程度与父母的动脉粥样硬化进展有关，但与基因变异无显著相关性。应用 2DST 的超声检查似乎是 FH 家族动脉粥样硬化综合评估的良好候选方法。
