关键词: Familial hypercholesterolemia LDL receptor Lipoprotein apheresis PCSK9 Xanthoma

Mesh : Blood Component Removal Child Cholesterol, LDL / blood Femoral Artery / diagnostic imaging Gene Deletion Homozygote Humans Hyperlipoproteinemia Type II / complications diagnosis genetics Male Receptors, LDL / genetics Ultrasonography Xanthomatosis / diagnosis etiology

来  源:   DOI:10.1016/j.jacl.2018.05.001

Abstract:
Xanthomas are visibly deforming cholesterol deposits that develop after long-term exposure to high serum low-density lipoprotein cholesterol concentrations. We present the case of a 10-year-old boy suffering from homozygous familial hypercholesterolemia with generalized atherosclerosis and large xanthomas. The case impressively demonstrates the potential of low-density lipoprotein cholesterol lowering to rapidly regress pathologic cutaneous manifestations of hypercholesterolemia.
摘要:
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