Homo sapiens Genome sequencing and assembly. Homo sapiens

Background: Sitosterolemia (STSL) is an extremely rare genetic disease. Xanthomas as the first symptom are frequently misinterpreted as familial hypercholesterolemia (FH) in children. Inappropriate treatment may deteriorate the condition of STSL.Objectives: The goal of this study was to summarize the clinical characteristics of children with STSL who had xanthomas as their first symptom and to provide clues for early clinical diagnosis.Methods: We summarized the clinical characteristics of STSL patients, and investigated the different indicators between the STSL and FH groups, as well as their diagnostic values for STSL.