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
| Autor: | Atsushi Kawakami, Keita Iyama, Seiji Koga, Hiroaki Kawano, Koji Ando, Koji Maemura, Hayato Tada, Masa-aki Kawashiri, Tsuyoshi Yoshimuta, Satoshi Ikeda, Sosuke Tsuji, Kayoko Matsushima |
|---|---|
| Rok vydání: | 2022 |
| Předmět: |
Male
Acute coronary syndrome Pediatrics medicine.medical_specialty Adolescent medicine.medical_treatment Hypercholesterolemia Takayasu arteritis Familial hypercholesterolemia Compound heterozygosity Lipid Metabolism Inborn Errors Internal Medicine medicine Humans ATP Binding Cassette Transporter Subfamily G Member 5 Acute Coronary Syndrome Achilles tendon biology business.industry C-reactive protein Phytosterols Percutaneous coronary intervention General Medicine medicine.disease Takayasu Arteritis Intestinal Diseases medicine.anatomical_structure biology.protein lipids (amino acids peptides and proteins) business Sitosterolemia |
| Zdroj: | Internal Medicine. 61:1169-1177 |
| ISSN: | 1349-7235 0918-2918 |
| DOI: | 10.2169/internalmedicine.8288-21 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|