A Clinical Case of Probable Sitosterolemia
Sitosterolemia is a rare genetic lipid disorder characterized by elevated plant sterols in the serum. A 24-year-old Japanese woman was referred to our hospital due to a high serum low-density lipoprotein cholesterol (LDL-C) level of 332 mg/dL. At first, she was suspected to suffer from familial hype...
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| Format: | Article |
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MDPI AG
2024-01-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/25/3/1535 |
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| author | Michishige Terasaki Mikiko Izumi Sho-ichi Yamagishi |
| author_facet | Michishige Terasaki Mikiko Izumi Sho-ichi Yamagishi |
| author_sort | Michishige Terasaki |
| collection | DOAJ |
| description | Sitosterolemia is a rare genetic lipid disorder characterized by elevated plant sterols in the serum. A 24-year-old Japanese woman was referred to our hospital due to a high serum low-density lipoprotein cholesterol (LDL-C) level of 332 mg/dL. At first, she was suspected to suffer from familial hypercholesterolemia, and thus received lipid-lowering agents. Although her LDL-C level remained high (220 mg/dL) with diet therapy plus 10 mg/day rosuvastatin, it was drastically decreased to 46 mg/dL with the addition of 10 mg/day ezetimibe. Finally, her LDL-C level was well-controlled at about 70 mg/dL with 10 mg/day ezetimibe alone. Furthermore, while her serum sitosterol level was elevated at 10.5 μg/mL during the first visit to our hospital, it decreased to 3.6 μg/mL with the 10 mg/day ezetimibe treatment alone. These observations suggest that she might probably suffer from sitosterolemia. Therefore, targeted gene sequencing analysis was performed using custom panels focusing on the exome regions of 21 lipid-associated genes, including <i>ABCG5</i>, <i>ABCG8</i>, and familial hypercholesterolemia-causing genes (<i>LDL receptor</i>, <i>LDLRAP1</i>, <i>PCSK9</i>, and <i>apolipoprotein B</i>). We finally identified a heterozygous <i>ABCG8</i> variant (NM_022437.2:c.1285A>G or NP_071882.1:p.Met429Val) in our patient. The same gene mutation was detected in her mother. We report here a rare case exhibiting probable sitosterolemia caused by a heterozygous Met429Val variant in the <i>ABCG8</i> gene and additional unknown variants. |
| first_indexed | 2024-03-08T03:55:33Z |
| format | Article |
| id | doaj.art-5583dd54bab64ecba8f52c14fc889bb8 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-08T03:55:33Z |
| publishDate | 2024-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-5583dd54bab64ecba8f52c14fc889bb82024-02-09T15:13:39ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672024-01-01253153510.3390/ijms25031535A Clinical Case of Probable SitosterolemiaMichishige Terasaki0Mikiko Izumi1Sho-ichi Yamagishi2Division of Diabetes, Metabolism and Endocrinology, Showa University Graduate School of Medicine, 1-5-8 Shinagawa, Tokyo 142-8666, JapanCenter for Clinical Genetics, Showa University Hospital, 1-5-8 Shinagawa, Tokyo 142-8666, JapanDivision of Diabetes, Metabolism and Endocrinology, Showa University Graduate School of Medicine, 1-5-8 Shinagawa, Tokyo 142-8666, JapanSitosterolemia is a rare genetic lipid disorder characterized by elevated plant sterols in the serum. A 24-year-old Japanese woman was referred to our hospital due to a high serum low-density lipoprotein cholesterol (LDL-C) level of 332 mg/dL. At first, she was suspected to suffer from familial hypercholesterolemia, and thus received lipid-lowering agents. Although her LDL-C level remained high (220 mg/dL) with diet therapy plus 10 mg/day rosuvastatin, it was drastically decreased to 46 mg/dL with the addition of 10 mg/day ezetimibe. Finally, her LDL-C level was well-controlled at about 70 mg/dL with 10 mg/day ezetimibe alone. Furthermore, while her serum sitosterol level was elevated at 10.5 μg/mL during the first visit to our hospital, it decreased to 3.6 μg/mL with the 10 mg/day ezetimibe treatment alone. These observations suggest that she might probably suffer from sitosterolemia. Therefore, targeted gene sequencing analysis was performed using custom panels focusing on the exome regions of 21 lipid-associated genes, including <i>ABCG5</i>, <i>ABCG8</i>, and familial hypercholesterolemia-causing genes (<i>LDL receptor</i>, <i>LDLRAP1</i>, <i>PCSK9</i>, and <i>apolipoprotein B</i>). We finally identified a heterozygous <i>ABCG8</i> variant (NM_022437.2:c.1285A>G or NP_071882.1:p.Met429Val) in our patient. The same gene mutation was detected in her mother. We report here a rare case exhibiting probable sitosterolemia caused by a heterozygous Met429Val variant in the <i>ABCG8</i> gene and additional unknown variants.https://www.mdpi.com/1422-0067/25/3/1535sitosterolemiaMet429ValABCG8ezetimibe |
| spellingShingle | Michishige Terasaki Mikiko Izumi Sho-ichi Yamagishi A Clinical Case of Probable Sitosterolemia International Journal of Molecular Sciences sitosterolemia Met429Val ABCG8 ezetimibe |
| title | A Clinical Case of Probable Sitosterolemia |
| title_full | A Clinical Case of Probable Sitosterolemia |
| title_fullStr | A Clinical Case of Probable Sitosterolemia |
| title_full_unstemmed | A Clinical Case of Probable Sitosterolemia |
| title_short | A Clinical Case of Probable Sitosterolemia |
| title_sort | clinical case of probable sitosterolemia |
| topic | sitosterolemia Met429Val ABCG8 ezetimibe |
| url | https://www.mdpi.com/1422-0067/25/3/1535 |
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