Case Report: The First Report of a Family with Sitosterolemia in the Polish Population

Key Points

• Sitosterolemia presents with abnormal cholesterol and plant sterol levels in affected individuals, indicating a unique genetic disorder.
• The family exhibited symptoms related to cholesterol metabolism, which suggests inherited traits contributing to lipid abnormalities.
• Comprehensive evaluation involved genetic testing methods to identify mutations associated with sitosterolemia.
• Understanding this case aids in recognizing sitosterolemia in broader populations, emphasizing genetic screening importance.