CHARACTERIZING THE ROLE OF ABCG5/G8 IN SITOSTEROLEMIA: DIAGNOSTIC CHALLENGES IN DIFFERENTIATING FROM FAMILIAL HYPERCHOLESTEROLEMIA
... causes the dysregulation of sterols. FH is characterized by elevated low-density lipoprotein cholesterol (LDL-C), whereas sitosterolemia presents with moderate elevation in LDL-C but dramatic increase in phytosterols. The phenotypic overlap between sitosterolemia and FH complicates detection. Both disorders manifest cardiovascular complications with elevated total cholesterol (TC) levels. The lipid profile distinguishes these conditions, necessitating HPLC, GC-MS tools. Genetic testing for mutations is essential for confirmation. The findings suggest that sitosterolemia mimics the FH state. FH is managed primarily with statins, while sitosterolemia ...
Изменен: 31.10.2024Путь: Главная / Home / Publications
CHARACTERIZING THE ROLE OF ABCG5/G8 IN SITOSTEROLEMIA: DIAGNOSTIC CHALLENGES IN DIFFERENTIATING FROM FAMILIAL HYPERCHOLESTEROLEMIA
5 2024
Изменен: 31.10.2024Путь: Главная / Публикации
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