CTCA in children with severe heterozygous familial hypercholesterolaemia: Screening for subclinical atherosclerosis

M Doortje Reijman; Sibbeliene E van den Bosch; D Meeike Kusters; Willemijn E Corpeleijn; Barbara A Hutten; Irene M Kuipers; R Nils Planken; Albert Wiegman

doi:10.1016/j.athplu.2023.12.002

CTCA in children with severe heterozygous familial hypercholesterolaemia: Screening for subclinical atherosclerosis

Atheroscler Plus. 2023 Dec 13:55:1-4. doi: 10.1016/j.athplu.2023.12.002. eCollection 2024 Mar.

Authors

M Doortje Reijman¹, Sibbeliene E van den Bosch¹, D Meeike Kusters¹, Willemijn E Corpeleijn¹, Barbara A Hutten², Irene M Kuipers¹, R Nils Planken³, Albert Wiegman¹

Affiliations

¹ Amsterdam UMC Location University of Amsterdam, Department of Pediatrics, Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands.
² Amsterdam UMC Location University of Amsterdam, Department of Epidemiology and Data Science, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, the Netherlands.
³ Amsterdam UMC Location University of Amsterdam, Department of Radiology and Nuclear Medicine, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, the Netherlands.

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 (CE_total [mmol]) in four children with severe HeFH and performed computed tomography coronary angiography (CTCA). These children, aged 13, 14, 15 and 18 years, had CE_total 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.

Keywords: Atherosclerosis; CTCA; Children; Familial hypercholesterolemia; Imaging; LDL-C; Severe HeFH.