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Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review

Sitosterolemia is a rare autosomal recessive disease characterized by a significant increase in blood plant sterol levels. Clinical manifestations usually include xanthomas, hypercholesterolemia,premature atherosclerosis and hematological abnormalities. We report here a sitosterolemia patient who pr...

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Bibliographic Details
Published in:Journal of clinical lipidology 2019-03, Vol.13 (2), p.246-250
Main Authors: Su, Xueying, Shao, Yongxian, Lin, Yunting, Zhao, Xiaoyuan, Zhang, Wen, Jiang, Minyan, Huang, Yonglan, Zeng, Chunhua, Liu, Li, Li, Xiuzhen
Format: Article
Language:English
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Summary:Sitosterolemia is a rare autosomal recessive disease characterized by a significant increase in blood plant sterol levels. Clinical manifestations usually include xanthomas, hypercholesterolemia,premature atherosclerosis and hematological abnormalities. We report here a sitosterolemia patient who presented with multiple xanthomas and profound hypercholesterolemia since 3 years old. The girl was mistreated as familial hypercholesterolemia for 6 years until correct diagnosis was made by detecting serum plant cholesterol levels. Sequence analysis revealed compound heterozygous mutations in ABCG5 gene, including the previously reported mutation c.904+1G>A and a novel missense mutation c.1528C>A. Although cholestyramine therapy reduced cholesterol level in association with marked regress of the xanthomas, serum plant sterol levels still remain high. Our study suggests that patients develop severe hypercholesterolemia and xanthomas at early age should be suspected of sitosterolemia. In addition, we also describe a novel missense mutation in exon 11 of the ABCG5 gene, which enriches the genetic mutation spectrum of sitosterolemia. •Clinical, molecular characteristics, and treatments of a girl with sitosterolemia.•Describes a novel missense mutation c.1528C>A in the ABCG5 gene.•Reviews the characteristics of 26 Chinese patients with sitosterolemia.
ISSN:1933-2874
1876-4789
DOI:10.1016/j.jacl.2019.01.007