Premature Acute Myocardial Infarction in a Young Patient With Sitosterolemia
Yoshihiro Yamada, MD, PhD,
Keiki Sugi, MD, PhD,
Yodo Gatate, MD,
Takaaki Senbonmatsu, MD, PhD,
Ikuo Inoue, MD, PhD,
Kenji Fukushima, MD, PhD,
Atsushi Iguchi, MD, PhD,
Hiroyuki Nakajima, MD, PhD,
Toshihiro Muramatsu, MD, PhD,
Shintaro Nakano, MD, PhD,
Hayato Tada, MD, PhD
Affiliations
Yoshihiro Yamada, MD, PhD
Department of Cardiology, Saitama Medical University International Medical Center, Saitama, Japan; Corresponding author: Dr Yoshihiro Yamada, Department of Cardiology, Saitama Medical University International Medical Center, 1397-1 Yamane, Hidaka City, Saitama 350-1298, Japan. Tel.: +81-42-984-4302; fax: +81-42-984-4591.
Keiki Sugi, MD, PhD
Department of Cardiology, Saitama Medical University International Medical Center, Saitama, Japan
Yodo Gatate, MD
Department of Cardiology, Saitama Medical University International Medical Center, Saitama, Japan
Takaaki Senbonmatsu, MD, PhD
Department of Cardiology, Saitama Medical University International Medical Center, Saitama, Japan
Ikuo Inoue, MD, PhD
Department of Endocrinology and Diabetes, Saitama Medical University, Saitama, Japan
Kenji Fukushima, MD, PhD
Department of Nuclear Medicine, Saitama Medical University International Medical Center, Saitama, Japan
Atsushi Iguchi, MD, PhD
Department of Cardiovascular Surgery, Saitama Medical University International Medical Center, Saitama, Japan
Hiroyuki Nakajima, MD, PhD
Department of Cardiovascular Surgery, Saitama Medical University International Medical Center, Saitama, Japan
Toshihiro Muramatsu, MD, PhD
Department of Cardiology, Saitama Medical University International Medical Center, Saitama, Japan
Shintaro Nakano, MD, PhD
Department of Cardiology, Saitama Medical University International Medical Center, Saitama, Japan
Hayato Tada, MD, PhD
Department of Cardiovascular and Internal Medicine, Kanazawa University School of Medicine, Ishikawa, Japan
Sitosterolemia is a rare, inherited, autosomal recessive disorder of lipid metabolism characterized by increased levels of plant sterols, such as sitosterol and campesterol, xanthomas, and accelerated atherosclerosis. In a 15-year-old boy exhibiting ST-elevation acute myocardial infarction, lipid panels, including plant sterol, and genetic testing for the ATP-binding cassette sub-family G member 5 (ABCG5) gene mutation, confirmed the diagnosis of sitosterolemia. A comprehensive lipid panel and genetic testing should be considered in patients with premature coronary artery disease to prevent disease progression through dietary and pharmacologic interventions specific to sitosterolemia. Résumé: La sitostérolémie est une maladie génétique rare à transmission autosomique récessive touchant le métabolisme des lipides, qui est caractérisée par une augmentation des taux de stérols végétaux comme le sitostérol et le campestérol, la présence de xanthomes et une athérosclérose accélérée. Chez un garçon âgé de 15 ans ayant subi un infarctus aigu du myocarde avec élévation du segment ST, le diagnostic de sitostérolémie a été confirmé par un bilan lipidique comprenant un dosage des stérols d'origine végétale et un test génétique de dépistage de la mutation du gène ABCG5 (ATP-binding cassette sub-family G member 5). Un bilan lipidique exhaustif et un test génétique doivent être envisagés chez les patients présentant une coronaropathie prématurée afin de prévenir la progression de la maladie grâce à des interventions d'ordre tant diététique que pharmacologique propres à la sitostérolémie.
