Clinical features and biochemical and genetic diagnosis in patients with sitosterolemia
Pei Zhou, Wu Mengyuan, Wu Bingbing, et al#br#
(1. Department of Endocrinology andMetabolic Diseases, Children’s Hospital of Fudan University, Shanghai 201102, China; 2. Molecular MedicalCenter, Institute of Pediatrics, Children’s Hospital of Fudan University, Shanghai 201102, China)
Abstract: 【Abstract】 Objective To analyze the clinical characteristics and biochemical and genetic diagnosis of patientswith sitosterolemia, then to improve the level of clinical diagnosis and treatment. Methods Four cases ofchildren presented with multiple xanthomas and hypercholesterolemia during November 2016 to June 2021 inChildren's Hospital of Fudan University were included. The clinical manifestations, laboratory examinationswere retrospectively analyzed. Serum phytosterol profiles were measured by gas chromatography-massspectrometry. DNA was extracted from peripheral blood and analyzed with whole exome sequencing (WES).Sanger sequencing method was used to verify the ABCG5 gene mutation and parental source. Results Fourcases of children including 2 boys and 2 girls presented with multiple linear and intertriginous xanthomasaround skin of the joint extensor side at the age from 15 months to 10 years and 6 months. Skin linear ornodular xanthomatosis were found on the extensional side of joint. Total cholesterol of these 4 cases waselevated. The campesterol level was 129.83-325.37 μmol/L (0.01-17.96 μmol/L), the stigmasterol levelwas 23.54-40.10 μmol/L (0.01-10.25 μmol/L), and the sitosterol level was 152.49-531.71 μmol/L (0.01-15.44 μmol/L). The results of genetic analysis showed that 4 cases carried compound heterozygous variants inABCG5 gene, and 6 different mutation types were detected. Conclusions Children with sitosterolemia present with skin xanthoma around the joint areas. Routine biochemistry indicates that blood cholesterol is elevated. Serumphytosterol profiles detection and genetic analysis should be carried out as early as possible, so as to provide earlydietary guidance and drug intervention, and improve the prognosis
2021, Vol. 9 
