Abstract
BackgroundFamilial 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).MethodsApplanation 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.ResultsAdults 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.ConclusionsChildren 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.
Highlights
Familial hypercholesterolemia (FH) is an autosomal dominant hereditary disease, causing life-long elevated plasma Low-density lipoprotein (LDL) cholesterol (LDL-C) levels
Individuals with FH did not differ significantly according to determined additional risk factors of atherosclerosis (BMI, hypertension, tobacco exposure, increased concentration of Glycated hemoglobin (HbA1C))
Both parents and children with FH presented significantly higher values of Total cholesterol (TC), LDL cholesterol (LDL-C), non-High-density lipoprotein (HDL)-C and TG in comparison to their healthy counterparts, despite the fact that all adults were treated with statins
Summary
Familial hypercholesterolemia (FH) is an autosomal dominant hereditary disease, causing life-long elevated plasma LDL cholesterol (LDL-C) levels. Atherosclerotic cardiovascular disease (ASCVD) that usually starts in middle age or letter was reported to progresses rapidly at an age of around 10 years in patients with FH. Even discreet morphological changes (thickening of intima-media complex [IMC] evaluated with ultrasound [6, 7]), may be absent while the function of the arterial wall is impaired already. This stiffening process can be assessed with applanation tonometry, with the pulse wave velocity (PWV) and augmentation index (AI) being its two common surrogates. 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)
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