Sitosterolemia: A Case Report and a Concise Literature Review
Background. Sitosterolemia is a relatively rare metabolism lipid disorder, with about 110 cases worldwide and only a few known cases from the Middle East. Sitosterolemia is characterized by excessive uptake of phytosterols and their deposition in various tissues, leading to complications. Mutations...
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| Format: | Article |
| Language: | English |
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Wiley
2023-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2023/4451595 |
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| author | Moeber M. Mahzari |
| author_facet | Moeber M. Mahzari |
| author_sort | Moeber M. Mahzari |
| collection | DOAJ |
| description | Background. Sitosterolemia is a relatively rare metabolism lipid disorder, with about 110 cases worldwide and only a few known cases from the Middle East. Sitosterolemia is characterized by excessive uptake of phytosterols and their deposition in various tissues, leading to complications. Mutations in the ABCG5 and ABCG8 genes are associated with pathological changes in sitosterolemia. Case Presentation. An adult patient from Saudi Arabia with dyslipidemia who did not respond to statin therapy. Based on genetic testing, the patient was eventually diagnosed with sitosterolemia. Ezetimibe significantly improved his cholesterol levels. Conclusion. The diagnosis of sitosterolemia is confirmed by the detection of high-phytosterol levels and pathological mutation in the ABCG5 and ABCG8 genes. Treatment of sitosterolemia is based on dietary changes and drugs to inhibit cholesterol absorption, such as ezetimibe. |
| format | Article |
| id | doaj-art-cfeb7a4c3de14c5d930d8c75ae67db6a |
| institution | Kabale University |
| issn | 2090-651X |
| language | English |
| publishDate | 2023-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-cfeb7a4c3de14c5d930d8c75ae67db6a2025-08-20T03:24:59ZengWileyCase Reports in Endocrinology2090-651X2023-01-01202310.1155/2023/4451595Sitosterolemia: A Case Report and a Concise Literature ReviewMoeber M. Mahzari0College of MedicineBackground. Sitosterolemia is a relatively rare metabolism lipid disorder, with about 110 cases worldwide and only a few known cases from the Middle East. Sitosterolemia is characterized by excessive uptake of phytosterols and their deposition in various tissues, leading to complications. Mutations in the ABCG5 and ABCG8 genes are associated with pathological changes in sitosterolemia. Case Presentation. An adult patient from Saudi Arabia with dyslipidemia who did not respond to statin therapy. Based on genetic testing, the patient was eventually diagnosed with sitosterolemia. Ezetimibe significantly improved his cholesterol levels. Conclusion. The diagnosis of sitosterolemia is confirmed by the detection of high-phytosterol levels and pathological mutation in the ABCG5 and ABCG8 genes. Treatment of sitosterolemia is based on dietary changes and drugs to inhibit cholesterol absorption, such as ezetimibe.http://dx.doi.org/10.1155/2023/4451595 |
| spellingShingle | Moeber M. Mahzari Sitosterolemia: A Case Report and a Concise Literature Review Case Reports in Endocrinology |
| title | Sitosterolemia: A Case Report and a Concise Literature Review |
| title_full | Sitosterolemia: A Case Report and a Concise Literature Review |
| title_fullStr | Sitosterolemia: A Case Report and a Concise Literature Review |
| title_full_unstemmed | Sitosterolemia: A Case Report and a Concise Literature Review |
| title_short | Sitosterolemia: A Case Report and a Concise Literature Review |
| title_sort | sitosterolemia a case report and a concise literature review |
| url | http://dx.doi.org/10.1155/2023/4451595 |
| work_keys_str_mv | AT moebermmahzari sitosterolemiaacasereportandaconciseliteraturereview |