Recent Advances on Familial Hypercholesterolemia in Children and Adolescents

Mainieri, Francesca; Tagi, Veronica Maria; Chiarelli, Francesco

doi:10.3390/biomedicines10051043

Cited by 15 publications

(26 citation statements)

References 105 publications

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“…However, the HDL2 TC/TP ratio was elevated in HOFH patients compared to the HEFH group, which could reflect increased plasma cholesterol levels in HOFH. Reduced PL content of the HDL3 particles was previously reported in FH patients relative to healthy controls [ 30 ]. Moreover, TG-rich HDL3 particles were present in FH patients with premature coronary heart disease [ 31 ].…”

Section: Discussionmentioning

confidence: 78%

Capacity of HDL to Efflux Cellular Cholesterol from Lipid-Loaded Macrophages Is Reduced in Patients with Familial Hypercholesterolemia

et al. 2023

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This study aimed to evaluate the high-density lipoprotein (HDL) capacity to efflux cellular cholesterol from lipid-loaded macrophages to find a reliable and low-cost biomarker with the purpose of better evaluating the risk of premature cardiovascular (CV) events in FH patients. This case-controlled study comprised 16 homozygous (HOFH) and 18 heterozygous (HEFH) FH patients, as well as 20 healthy subjects recruited as controls. Two main subfractions of HDL (HDL2 (d = 1.063–1.125 g/mL) and HDL3 (d = 1.125–1.210 g/mL)) were isolated from the patients’ serum samples using sequential ultracentrifugation. After compositional characterization, the capacity of HDL to efflux cholesterol (CEC%) from lipid-laden macrophages was measured. The HDL2 and HDL3 subfractions showed some differences in lipid and protein composition between the studied groups. In addition, both HDL subfractions (p < 0.001) revealed significantly reduced CEC% in HOFH patients (HDL2: 2.5 ± 0.1 and HDL3: 3.2 ± 0.2) in comparison with the HEFH (HDL2: 3.2 ± 0.1% and HDL3: 4.1 ± 0.2%) and healthy (HDL2: 3.3 ± 0.2% and HDL3: 4.5 ± 0.3%) subjects. Additionally, multinomial logistic regression results indicated that the CEC% of both HDL2 (OR: 0.091; 95% CI: 0.018–0.452, p < 0.01) and HDL3 (OR: 0.118; 95% CI: 0.035–0.399, p < 0.01) subfractions are strongly and inversely associated with the homozygous form of FH. A decreased capacity of HDL particles to efflux cholesterol from macrophages might identify homozygous FH patients who are at elevated risk for premature CVDs. Prospective studies with a large sample size are warranted to evaluate this hypothesis.

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Section: Discussionmentioning

confidence: 78%

Capacity of HDL to Efflux Cellular Cholesterol from Lipid-Loaded Macrophages Is Reduced in Patients with Familial Hypercholesterolemia

et al. 2023

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“…Different screening methods have been proposed to detect hyperlipidemias in children and adolescents: a universal method, a population screening for a specific age group, a selective method, evaluating a specific high-risk population, a cascade method, screening from an index case to family members, a reverse cascade method, evaluating from pediatric affected patients to other members of the family, and child-parent method, from children screening at a specific age to parents [ 125 ]. Assessing the pediatric population is recognized as a universal method of screening [ 126 ]. Risk factors for atherosclerosis and early ASCVD in childhood have been listed above [ 2 , 71 ].…”

Section: Screening For Hyperlipidemiamentioning

confidence: 99%

Hyperlipidemia and Cardiovascular Risk in Children and Adolescents

2023

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Atherosclerotic cardiovascular disease (ASCVD) represents the major cause of morbidity and mortality worldwide. The onset of the atherosclerosis process occurs during childhood and adolescence, subsequently leading to the onset of cardiovascular disease as young adults. Several cardiovascular risk factors can be identified in children and adolescents; however, hyperlipidemia, in conjunction with the global obesity epidemic, has emerged as the most prevalent, playing a key role in the development of ASCVD. Therefore, screening for hyperlipidemia is strongly recommended to detect high-risk children presenting with these disorders, as these patients deserve more intensive investigation and intervention. Treatment should be initiated as early as possible in order to reduce the risk of future ASCVD. In this review, we will discuss lipid metabolism and hyperlipidemia, focusing on correlations with cardiovascular risk and screening and therapeutic management to reduce or almost completely avoid the development of ASCVD.

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“…Increased risk of premature mortality and early ACD is disapprovingly reported even for statin-treated patients with homozygous FH [ 27 ]. Raal and co-workers evaluated the occurrence of major ACV events in 149 homozygous FH patients from South Africa.…”

Section: Ldl Cholesterolmentioning

confidence: 99%

Familial Hypercholesterolaemia as a Predisposing Factor for Atherosclerosis

et al. 2022

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Lipid metabolism alterations are an important component of the pathogenesis of atherosclerosis. However, it is now clear that the atherogenesis process involves more than one mechanism, and more than one condition can predispose this condition. Multiple risk factors contribute to the atherosclerosis initiation and define its course. Familial hypercholesterolaemia is a disorder of lipid metabolism that often leads to atherosclerosis development. As is clear from the disease name, the hallmark is the increased levels of low-density lipoprotein cholesterol (LDL-C) in blood. This creates favourable conditions for atherogenesis. In this review, we briefly described the familial hypercholesterolaemia and summarized data on the relationship between familial hypercholesterolaemia and atherosclerosis.

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Recent Advances on Familial Hypercholesterolemia in Children and Adolescents

Cited by 15 publications

References 105 publications

Capacity of HDL to Efflux Cellular Cholesterol from Lipid-Loaded Macrophages Is Reduced in Patients with Familial Hypercholesterolemia

Capacity of HDL to Efflux Cellular Cholesterol from Lipid-Loaded Macrophages Is Reduced in Patients with Familial Hypercholesterolemia

Hyperlipidemia and Cardiovascular Risk in Children and Adolescents

Familial Hypercholesterolaemia as a Predisposing Factor for Atherosclerosis

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