Early Coronary Atherosclerosis in Homozygous Familial Hypercholesterolemia: The Importance of Aggressive Lipid...

Homozygous familial hypercholesterolemia (HoFH) causes severe lifelong low-density lipoprotein-cholesterol (LDL-C) elevation and accelerated atherosclerosis from childhood.

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.

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.

Early recognition and aggressive LDL-C lowering are essential in HoFH to prevent atherosclerosis.