Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature
Keita IyamaSatoshi IkedaSeiji KogaTsuyoshi YoshimutaHiroaki KawanoSosuke TsujiKoji AndoKayoko MatsushimaHayato TadaMasa-aki KawashiriAtsushi KawakamiKoji Maemura
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JOURNAL OPEN ACCESS

2022 Volume 61 Issue 8 Pages 1169-1177

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Abstract

A 17-year-old boy with acute coronary syndrome was admitted to our hospital. He had xanthomas over his elbow and Achilles tendon and a high level of low-density lipoprotein cholesterol; therefore, his initial diagnosis was familial hypercholesterolemia. However, a genetic analysis revealed a compound heterozygous mutation in the ABCG5 gene with a high serum level of sitosterol, leading to the diagnosis of sitosterolemia. After lipid-lowering treatment, percutaneous coronary intervention was performed. Furthermore, a persistently high C-reactive protein level and images of large arteries led to a diagnosis of Takayasu arteritis. To our knowledge, this is the first case of sitosterolemia complicated by Takayasu arteritis.

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© 2022 by The Japanese Society of Internal Medicine
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