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CTCA in children with severe heterozygous familial hypercholesterolaemia: Screening for subclinical atherosclerosis
M Doortje Reijman1, Sibbeliene E van den Bosch1, D Meeike Kusters1
1Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.
Insights
Familial hypercholesterolemia (FH) is a common genetic disorder. In children with severe FH, computed tomography coronary angiography (CTCA) did not reveal abnormalities despite high LDL-C exposure, suggesting routine screening is not indicated.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Familial hypercholesterolemia (FH) is a prevalent inherited disorder.
- Severe heterozygous FH (HeFH) can present with very high LDL-C levels, overlapping with homozygous FH (HoFH).
- Subclinical atherosclerosis is observed in children with HoFH, but its presence in severe HeFH is less understood.
Purpose of the Study:
- To investigate the presence of subclinical atherosclerosis in children with severe HeFH.
- To assess cardiovascular imaging findings in relation to cumulative low-density lipoprotein cholesterol (LDL-C) exposure in this cohort.
Main Methods:
- Calculated cumulative LDL-C exposure (CE_total) in four children with severe HeFH.
- Performed computed tomography coronary angiography (CTCA) on these children.
- Analyzed cardiovascular imaging for abnormalities.
Main Results:
- The four children with severe HeFH were aged 13, 14, 15, and 18 years.
- Their cumulative LDL-C exposure ranged from 71.3 to 136.1 mmol.
- No abnormalities were detected on cardiovascular imaging (CTCA) in any of the participants.
Conclusions:
- Despite significant cumulative LDL-C exposure, children with severe HeFH did not exhibit signs of subclinical atherosclerosis via CTCA.
- Current findings do not support the routine recommendation of CTCA for children diagnosed with severe HeFH.
- Further research may be needed to understand long-term cardiovascular risk in severe HeFH.
Abstract:
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.
