以血小板减少为首发临床表现的植物固醇血症1例并文献复习

杨雅景; 薛梅; 赵苗苗; 陈文兰; 王雅丹

doi:10.13201/j.issn.1004-2806.2022.03.015

以血小板减少为首发临床表现的植物固醇血症1例并文献复习

- 华中科技大学同济医学院附属协和医院血液病研究所(武汉，430022)

详细信息

通讯作者: 王雅丹，E-mail：yadan_wang@hust.edu.cn

中图分类号: R558.2

收稿日期: 2021-06-03

刊出日期: 2022-03-01

Phytosterolemia with thrombocytopenia as the first clinical manifestation: a case report and literature review

More Information

Corresponding author: WANG Yadan, E-mail: yadan_wang@hust.edu.cn

Received Date: 03 June 2021

Publish Date: 01 March 2022

摘要

- 植物固醇血症 /
- 血小板减少 /
- ABCG5 /
- ABCG8
Abstract: Phytosterolemia known as β-sitosterolemia is a rare autosomal recessive lipid storage disease, which is caused by mutations of ABCG5 and ABCG8 genes. Its clinical manifestations are extremely heterogeneous, result in a high misdiagnosis rate. The common clinical manifestations are tendinous and cutaneous xanthomas, arthritis, premature cardiovascular disease and atherosclerosis. Patients with hematologic abnormalities as the first clinical manifestation are rare. We reported a 53-year-old female patient with thrombocytopenia as the first clinical manifestation. Large platelets, spherocytes and stomatocytes were found on the peripheral blood smear. The homozygous variants were detected in exon 6(c.G788A) of ABCG8 by next generation sequencing. We discuss the clinical manifestations, pathogenesis and treatment of this disease. For patients with unexplained hemolytic anemia, macrothrombocytopenia and splenomegaly, the possibility of this disease should be considered.
- phytosterolemia /
- thrombocytopenia /
- ABCG5 /
- ABCG8

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图 1 植物固醇血症患者外周血涂片(a、b)及其姐姐外周血涂片(c、d)Wright-Giemsa染色光学显微镜图像(×1000)

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