Xanthomas associated with homozygous familial hypercholesterolemia.
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.
Riche
Daniel M
DM
Schools of Pharmacy, University of Mississippi, Jackson, Mississippi; Medicine, University of Mississippi, Jackson, Mississippi, USA.
East
Honey E
HE
D000293:Adolescent; D001741:Black or African American; D000924:Anticholesteremic Agents / Q000627:therapeutic use*; D001781:Blood Component Removal; D008078:Cholesterol, LDL / Q000097:blood; D003131:Combined Modality Therapy; D005260:Female; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000628:therapy; D055118:Medication Adherence; D014973:Xanthomatosis / Q000209:etiology*
D000924:Anticholesteremic Agents; D008078:Cholesterol, LDL