Xanthomas associated with homozygous familial hypercholesterolemia

Pharmacotherapy
Daniel M Riche, Honey E East

Abstract

An 18-year-old African-American female was diagnosed with homozygous familial hypercholesterolemia (HFH) during early childhood. Physical examination revealed tuberous xanthomas on the processus olecrani, as well as smaller tendinous and tuberous xanthomas on the hands. Both tendinous and tuberous xanthomas may occur in patients with HFH. The prevalence of HFH is 1 case/1 million persons, and it is reported less frequently in African-Americans. These photographs were taken shortly after the patient's highest low-density lipoprotein cholesterol (LDL) level was recorded at our medical center (766 mg/dl). At that time, she was only receiving atorvastatin. The patient is now taking four drugs at maximum doses for her HFH: atorvastatin, colesevelam, ezetimibe, and niacin. She is also receiving twice-monthly LDL apheresis. Her only cardiovascular risk factor was a low high-density lipoprotein cholesterol level (dependent on apheresis). The patient's xanthomas tend to improve when she is compliant with her cholesterol-lowering regimen. Six years after these photographs were taken, the patient's LDL level was 184 mg/dl, and she remained cardiovascular event free.

Citations

Oct 4, 2013·Internal Medicine·Fan-Chun MengHsin-Hung Huang
Jul 20, 2010·The Foot·Arcot Rekha, Deepak Krishna Rai
Jul 5, 2016·Paediatrics and International Child Health·Shivani DeswalVikas Kohli

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