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.
Intern Med
; 61(8): 1169-1177, 2022 Apr 15.
Article
en En
| MEDLINE
| ID: mdl-34615826
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Arteritis de Takayasu
/
Síndrome Coronario Agudo
/
Enfermedades Intestinales
/
Errores Innatos del Metabolismo Lipídico
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
En
Año:
2022
Tipo del documento:
Article