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Homozygous Familial Hypercholesterolemia (HoFH)

Study finds no indication for routine CT coronary angiography in children with severe familial hypercholesterolemia

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A study involving children with severe heterozygous familial hypercholesterolemia (HeFH), a genetically inherited disorder, found that despite high exposure to elevated cholesterol levels from birth onwards, none of the participants showed abnormalities on cardiovascular imaging.

The study utilized computed tomography coronary angiography (CTCA) to assess potential subclinical atherosclerosis, a precursor to cardiovascular disease. The results suggest that there is currently no indication to recommend routine CTCA for children with severe HeFH, challenging the assumption that they may exhibit similar cardiovascular risks as those with homozygous FH (HoFH).

This implies that the treatment and cardiovascular follow-up for severe HeFH may not need to be as intensive as for HoFH, highlighting the importance of tailored approaches in managing familial hypercholesterolemia based on the severity of the condition.

Reference

Reijman MD, van den Bosch SE, Kusters DM, et al. CTCA in children with severe heterozygous familial hypercholesterolaemia: Screening for subclinical atherosclerosis. Atheroscler Plus. 2023;55:1-4. doi: 10.1016/j.athplu.2023.12.002. PMID: 38188455; PMCID: PMC10767309.

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