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, Koji Maemura

Journal: Internal medicine (Tokyo, Japan) 2022;61(8):1169-1177

PMID: 34615826

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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.

Address: Department of Cardiovascular Medicine, Nagasaki University Graduate School of Biomedical Sciences, Japan.; Department of Radiation Disaster Medicine, Fukushima Medical University, Japan.; Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Medical Sciences, Japan.; Department of Hematology, Atomic Bomb Disease and Hibakusha Medicine Unit, Atomic Bomb Disease Institute, Nagasaki University, Japan.; Department of Gastroenterology and Hepatology, Nagasaki University Graduate School of Biomedical Sciences, Japan.; Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine, Japan.

DOI: 10.2169/internalmedicine.8288-21

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MeSH Terms: ATP Binding Cassette Transporter, Subfamily G, Member 5, Acute Coronary Syndrome, Adolescent, Humans, Hypercholesterolemia, Intestinal Diseases, Lipid Metabolism, Inborn Errors, Male, Phytosterols, Takayasu Arteritis