Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia
Abstract Background Sitosterolemia is a rare, inherited, autosomal recessive disorder of lipid metabolism. Patients with sitosterolemia may exhibit diverse, distinct clinical characteristics. Methods and results We report cases of sitosterolemia with haematological abnormalities as primary initial s...
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| Format: | Article |
| Language: | English |
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Wiley
2025-08-01
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| Series: | Clinical and Translational Discovery |
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| Online Access: | https://doi.org/10.1002/ctd2.70071 |
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| author | Mengjia Qian Pu Chen Yanxia Zhan Bijun Zhu Lingyan Wang Miaomiao Zhang Yujie Zhou Hao Chen Lili Ji Yunfeng Cheng |
| author_facet | Mengjia Qian Pu Chen Yanxia Zhan Bijun Zhu Lingyan Wang Miaomiao Zhang Yujie Zhou Hao Chen Lili Ji Yunfeng Cheng |
| author_sort | Mengjia Qian |
| collection | DOAJ |
| description | Abstract Background Sitosterolemia is a rare, inherited, autosomal recessive disorder of lipid metabolism. Patients with sitosterolemia may exhibit diverse, distinct clinical characteristics. Methods and results We report cases of sitosterolemia with haematological abnormalities as primary initial symptoms. Both patients were seen with symptoms of haemolytic anaemia and thrombocytopenia. Their plasma levels of low‐density lipoprotein‐cholesterol were normal. Genetic tests were arranged as stomatocytes were found in their peripheral blood smears. Three heterozygous mutations in adenosine triphosphate‐binding cassette subfamily G member 5 (ABCG5) were identified in case 1. A mutation in integrin beta 3 was discovered in case 2, while no mutations were found in ABCG5 or ABCG8. Sitosterolemia was considered for both cases, and Ezetimibe was used for treatment, with quick curative responses. Conclusion For patients with unexplained haemolytic anaemia, thrombocytopenia, especially with stomatocytes present in peripheral blood, the diagnosis of sitosterolemia should be considered, and genetic testing is recommended. |
| format | Article |
| id | doaj-art-e0f26f2dd8b043aea4c2a43fc09e40b8 |
| institution | Kabale University |
| issn | 2768-0622 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical and Translational Discovery |
| spelling | doaj-art-e0f26f2dd8b043aea4c2a43fc09e40b82025-08-25T18:28:39ZengWileyClinical and Translational Discovery2768-06222025-08-0154n/an/a10.1002/ctd2.70071Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemiaMengjia Qian0Pu Chen1Yanxia Zhan2Bijun Zhu3Lingyan Wang4Miaomiao Zhang5Yujie Zhou6Hao Chen7Lili Ji8Yunfeng Cheng9Institute of Clinical Science Zhongshan Hospital, Fudan University Shanghai ChinaDepartment of Laboratory Medicine Zhongshan Hospital, Fudan University Shanghai ChinaDepartment of Haematology Zhongshan Hospital, Fudan University Shanghai ChinaInstitute of Clinical Science Zhongshan Hospital, Fudan University Shanghai ChinaInstitute of Clinical Science Zhongshan Hospital, Fudan University Shanghai ChinaInstitute of Clinical Science Zhongshan Hospital, Fudan University Shanghai ChinaInstitute of Clinical Science Zhongshan Hospital, Fudan University Shanghai ChinaDepartment of Thoracic Surgery Zhongshan‐Xuhui Hospital, Fudan University Shanghai ChinaDepartment of Haematology Zhongshan Hospital, Fudan University Shanghai ChinaInstitute of Clinical Science Zhongshan Hospital, Fudan University Shanghai ChinaAbstract Background Sitosterolemia is a rare, inherited, autosomal recessive disorder of lipid metabolism. Patients with sitosterolemia may exhibit diverse, distinct clinical characteristics. Methods and results We report cases of sitosterolemia with haematological abnormalities as primary initial symptoms. Both patients were seen with symptoms of haemolytic anaemia and thrombocytopenia. Their plasma levels of low‐density lipoprotein‐cholesterol were normal. Genetic tests were arranged as stomatocytes were found in their peripheral blood smears. Three heterozygous mutations in adenosine triphosphate‐binding cassette subfamily G member 5 (ABCG5) were identified in case 1. A mutation in integrin beta 3 was discovered in case 2, while no mutations were found in ABCG5 or ABCG8. Sitosterolemia was considered for both cases, and Ezetimibe was used for treatment, with quick curative responses. Conclusion For patients with unexplained haemolytic anaemia, thrombocytopenia, especially with stomatocytes present in peripheral blood, the diagnosis of sitosterolemia should be considered, and genetic testing is recommended.https://doi.org/10.1002/ctd2.70071ABCG5haematological abnormalitiesITGB3sitosterolemia |
| spellingShingle | Mengjia Qian Pu Chen Yanxia Zhan Bijun Zhu Lingyan Wang Miaomiao Zhang Yujie Zhou Hao Chen Lili Ji Yunfeng Cheng Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia Clinical and Translational Discovery ABCG5 haematological abnormalities ITGB3 sitosterolemia |
| title | Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia |
| title_full | Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia |
| title_fullStr | Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia |
| title_full_unstemmed | Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia |
| title_short | Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia |
| title_sort | patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia |
| topic | ABCG5 haematological abnormalities ITGB3 sitosterolemia |
| url | https://doi.org/10.1002/ctd2.70071 |
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