Case report-Rapid regression of xanthomas under lipoprotein apheresis in a boy with homozygous familial hypercholesterolemia

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.

Keywords: Familial hypercholesterolemia; LDL receptor; Lipoprotein apheresis; PCSK9; Xanthoma.