TY - JOUR
T1 - CTCA in children with severe heterozygous familial hypercholesterolaemia
T2 - Screening for subclinical atherosclerosis
AU - Reijman, M. Doortje
AU - van den Bosch, Sibbeliene E.
AU - Kusters, D. Meeike
AU - Corpeleijn, Willemijn E.
AU - Hutten, Barbara A.
AU - Kuipers, Irene M.
AU - Planken, R. Nils
AU - Wiegman, Albert
N1 - Funding Information: AW reports research support from pharmaceutical trials of lipid modification agents from Amgen, Regeneron, Novartis, Sanofi, Esperion, Silence Therapeutics and Ultragenyx, and is a member of the safety board at Amryt. BAH and AW received a research grant from Silence Therapeutics. SEvdB, MDR, DMK, IMK, RNP and WEC have no conflicts of interest. Publisher Copyright: © 2023 The Authors
PY - 2024/3/1
Y1 - 2024/3/1
N2 - Familial hypercholesterolemia (FH) is one of the most common genetically inherited disorders in the world. Children with severe heterozygous FH (HeFH), i.e. untreated low-density lipoprotein cholesterol (LDL-C) levels above the 90th percentile for age and sex among FH mutation carriers, can have LDL-C levels that overlap levels of children with homozygous FH (HoFH), but treatment regimen and cardiovascular follow-up to prevent cardiovascular disease are less intensive in children with severe HeFH. In children with HoFH, subclinical atherosclerosis can already be present using computed tomography coronary angiography (CTCA). The question remains whether this is also the case in children with severe HeFH who have a high exposure to elevated LDL-C levels from birth onwards as well. We calculated the cumulative LDL-C exposure (CEtotal [mmol]) in four children with severe HeFH and performed computed tomography coronary angiography (CTCA). These children, aged 13, 14, 15 and 18 years, had CEtotal of 71.3, 97.8, 103.6 and 136.1 mmol, respectively. None of them showed abnormalities on cardiovascular imaging, despite high LDL-C exposure. The results of this study, do not give us an indication to recommend performing CTCA routinely in children with severe HeFH.
AB - Familial hypercholesterolemia (FH) is one of the most common genetically inherited disorders in the world. Children with severe heterozygous FH (HeFH), i.e. untreated low-density lipoprotein cholesterol (LDL-C) levels above the 90th percentile for age and sex among FH mutation carriers, can have LDL-C levels that overlap levels of children with homozygous FH (HoFH), but treatment regimen and cardiovascular follow-up to prevent cardiovascular disease are less intensive in children with severe HeFH. In children with HoFH, subclinical atherosclerosis can already be present using computed tomography coronary angiography (CTCA). The question remains whether this is also the case in children with severe HeFH who have a high exposure to elevated LDL-C levels from birth onwards as well. We calculated the cumulative LDL-C exposure (CEtotal [mmol]) in four children with severe HeFH and performed computed tomography coronary angiography (CTCA). These children, aged 13, 14, 15 and 18 years, had CEtotal of 71.3, 97.8, 103.6 and 136.1 mmol, respectively. None of them showed abnormalities on cardiovascular imaging, despite high LDL-C exposure. The results of this study, do not give us an indication to recommend performing CTCA routinely in children with severe HeFH.
KW - Atherosclerosis
KW - CTCA
KW - Children
KW - Familial hypercholesterolemia
KW - Imaging
KW - LDL-C
KW - Severe HeFH
UR - http://www.scopus.com/inward/record.url?scp=85180359320&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.athplu.2023.12.002
DO - https://doi.org/10.1016/j.athplu.2023.12.002
M3 - Article
C2 - 38188455
SN - 2667-0909
VL - 55
SP - 1
EP - 4
JO - Atherosclerosis Plus
JF - Atherosclerosis Plus
ER -