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

• Published in: Journal of clinical lipidology Vol. 12; no. 4; pp. 868 - 871
• Main Authors: Katzmann, Julius, Schürfeld, Carsten, März, Winfried, Laufs, Ulrich
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-07-2018
• Subjects: Familial hypercholesterolemia; LDL receptor; Lipoprotein apheresis; PCSK9; Xanthoma; PCSK9; Familial hypercholesterolemia; Lipoprotein apheresis; Xanthoma; LDL receptor
• ISSN: 1933-2874; 1876-4789
• DOI: 10.1016/j.jacl.2018.05.001

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.
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•Case of homozygous familial hypercholesterolemia with extensive cutaneous signs.•Rapid disappearance of cutaneous signs by intensive low-density lipoprotein cholesterol lowering.•Efficacy of PCSK9 inhibition depends on residual low-density lipoprotein receptor expression/function.