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.

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.

• Authors: 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) (Intern Med) Vol. 61 Issue 8 Pg. 1169-1177 (Apr 15 2022) ISSN: 1349-7235 [Electronic] Japan
• PMID: 34615826 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• ATP Binding Cassette Transporter, Subfamily G, Member 5
• Phytosterols

Topics

• ATP Binding Cassette Transporter, Subfamily G, Member 5 (genetics)
• Acute Coronary Syndrome (diagnosis, etiology)
• Adolescent
• Humans
• Hypercholesterolemia
• Intestinal Diseases (complications)
• Lipid Metabolism, Inborn Errors (genetics)
• Male
• Phytosterols (adverse effects)
• Takayasu Arteritis (complications, diagnosis)