• Internal medicine · Apr 2022

    Review 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 Iyama, Satoshi Ikeda, Seiji Koga, Tsuyoshi Yoshimuta, Hiroaki Kawano, Sosuke Tsuji, Koji Ando, Kayoko Matsushima, Hayato Tada, Masa-Aki Kawashiri, Atsushi Kawakami, and Koji Maemura.
    • Department of Cardiovascular Medicine, Nagasaki University Graduate School of Biomedical Sciences, Japan.
    • Intern. Med. 2022 Apr 15; 61 (8): 1169-1177.

    AbstractA 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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