Therefore, this study intends to explore whether there are differences in cholesterol (Chol), low-density lipoprotein cholesterol (LDL-c), mean platelet volume (MPV), and hemoglobin (Hb) between children with STSL and FH with xanthomas as the primary clinical presentation, as well as to summarize other clinical features of STSL, to provide clues for early clinical diagnosis. Here, GSTM1 is linked to sitosterolemia.