SUMMARY Homozygous familial hypercholesterolemia is a rarely agentic disorder of the lipoprotein metabolism intimately related to premature atherosclerotic cardiovascular disease that can lead to high disability and mortality. Homozygous familial hypercholesterolemia typically affects not only the aortic root, compromising the coronary ostia, but also affects other territories such as the carotid, descending aorta, and renal arteries. Multi-contrast high-resolution magnetic resonance imaging (MRI) provides a validated and useful method to characterize carotid artery atherosclerotic plaques quantitatively. However, very few studies have been done on assessing plaque composition in patients with Homozygous familial hypercholesterolemia using high-resolution MRI. This report is to evaluate the value of MRI in accessing carotid artery disease in patients with Homozygous familial hypercholesterolemia. We describe a 28-year-old patient from Beijing, China, who presented to the Neurology Clinic with intermittent blurred vision of the right eye, headache, nausea, and vomiting for eight years without obvious causes. Familial hypercholesterolemia was suspected based on medical history and laboratory examination. Carotid Doppler ultrasound showed bilateral common carotid artery, internal carotid artery, and external carotid artery wall thickening with hyperechoic signals. Subsequently, high-resolution multi-contrast MRI of the carotid showed calcification with hypo-intense areas located at the middle layer of the plaque, with moderate stenosis. The plaque located at the right bifurcation of the common carotid artery extended to the internal carotid artery, causing lumen stenosis close to occlusion. The patient was treated with right carotid artery endarterectomy. At a 6-month follow-up, there had been no recurrence of the patient’s symptoms.
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