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

J Clin Lipidol. 2018 Jul-Aug;12(4):868-871. doi: 10.1016/j.jacl.2018.05.001. Epub 2018 Jun 1.


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.

Publication types

  • Case Reports

MeSH terms

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


  • Cholesterol, LDL
  • Receptors, LDL