Key result
Intensive lipid lowering fails to prevent early coronary atherosclerosis in pediatric homozygous familial hypercholesterolemia.
Why the study?
Homozygous familial hypercholesterolemia causes severe lifelong LDL-C elevation and accelerated atherosclerosis from childhood, with challenges in achieving LDL-C targets using current therapies.
Case Report (n=1)
Despite aggressive treatment with statins and ezetimibe, a 10-year-old with HoFH developed early symptomatic coronary atherosclerosis, highlighting the severe clinical course and need for extremely early and aggressive lipid-lowering therapies.
Supports early intensive lipid-lowering in pediatric HoFH; leaves open optimal regimens and long-term outcomes.
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) causes severe lifelong low-density lipoprotein-cholesterol (LDL-C) elevation and accelerated atherosclerosis from childhood. CASE SUMMARY: A 10-year-old boy presented with extensive tuberous xanthomas and was diagnosed with HoFH due to bi-allelic pathogenic variants in the low-density lipoprotein receptor gene. Baseline LDL-C was 663 mg/dL (17.14 mmol/L). Treatment with atorvastatin, followed by rosuvastatin and ezetimibe, reduced LDL-C to 235 mg/dL (6.08 mmol/L) with marked regression of xanthomas. One year later, he developed exertional chest pain. Coronary angiography and intravascular ultrasound demonstrated early coronary atherosclerosis with a nonobstructive 28% stenosis of the right coronary artery. DISCUSSION: This case provides an opportunity to discuss the role and limitations of currently available lipid-lowering therapies in HoFH. We review current lipid-lowering therapies and the challenges of achieving LDL-C targets in patients with HoFH, particularly in resource-limited settings. TAKE-HOME MESSAGE: Early recognition and aggressive LDL-C lowering are essential in HoFH to prevent atherosclerosis.
No takes yet. Share an insight, caveat, or question.
Zachariah et al. (2026) conducted a case report in Homozygous familial hypercholesterolemia (n=1). Atorvastatin, rosuvastatin, and ezetimibe was evaluated on Coronary atherosclerosis and LDL-C reduction. Treatment with atorvastatin, rosuvastatin, and ezetimibe reduced LDL-C to 235 mg/dL but did not prevent early coronary atherosclerosis with 28% stenosis in a 10-year-old boy with HoFH.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: