Xanthomas Regression in an 8-Year-Old Boy Treated With Lomitapide

Genovefa Kolovou; Aleksandros Tsoutsinos; Irene Mastorakou; Sophie Mavrogeni; George Hatzigeorgiou

doi:10.1016/j.jaccas.2019.06.029

Xanthomas Regression in an 8-Year-Old Boy Treated With Lomitapide

JACC Case Rep. 2019 Sep 4;1(3):414-416. doi: 10.1016/j.jaccas.2019.06.029. eCollection 2019 Oct.

Authors

Genovefa Kolovou¹, Aleksandros Tsoutsinos², Irene Mastorakou³, Sophie Mavrogeni¹, George Hatzigeorgiou¹

Affiliations

¹ Department of Cardiology, Onassis Cardiac Surgery Center, Athens, Greece.
² Department of Pediatric Cardiology, Onassis Cardiac Surgery Center, Athens, Greece.
³ Department of Imaging, Onassis Cardiac Surgery Centre, Athens, Greece.

Abstract

This case reports on an 8-year-old boy with homozygous familial hypercholesterolemia with large tuberous xanthomas over his hands, elbows, buttocks, knees, and feet. Lomitapide 40 mg daily (steadily increased) was added to his classical lipid-lowering therapy. A 50% reduction in the thickness, hardness, size, and color intensity of xanthomas was reported after 2 years of treatment. (Level of Difficulty: Intermediate.).

Keywords: CVD, cardiovascular disease; HoFH, homozygous familial hypercholesterolemia; LDL-C, low-density lipoprotein cholesterol; LL, lipid-lowering; colesevelam; ezetimibe; homozygous familial hypercholesterolemia; lomitapide; statins.