Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience
Abstract Background Homozygous familial hypercholesterolaemia (HoFH) increases risk of premature cardiovascular events and cardiac death. In severe cases of HoFH, clinical signs and symptoms cannot be controlled well by non-surgical treatments, liver transplantation (LT) currently represents the via...
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BMC
2025-01-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03443-z |
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| author | Hao-Su Zhan Lin Wei Wei Qu Zhi-Gui Zeng Ying Liu Yu-Le Tan Jun Wang Liang Zhang En-Hui He Guang-Peng Zhou Hai-Ming Zhang Zhi-Jun Zhu Li-Ying Sun |
| author_facet | Hao-Su Zhan Lin Wei Wei Qu Zhi-Gui Zeng Ying Liu Yu-Le Tan Jun Wang Liang Zhang En-Hui He Guang-Peng Zhou Hai-Ming Zhang Zhi-Jun Zhu Li-Ying Sun |
| author_sort | Hao-Su Zhan |
| collection | DOAJ |
| description | Abstract Background Homozygous familial hypercholesterolaemia (HoFH) increases risk of premature cardiovascular events and cardiac death. In severe cases of HoFH, clinical signs and symptoms cannot be controlled well by non-surgical treatments, liver transplantation (LT) currently represents the viable option. Method To assess the clinical efficacy, prognosis, and optimal timing of LT for HoFH, a retrospective analysis was conducted on the preoperative, surgical conditions, and postoperative follow-up of children who received an LT for HoFH at the Beijing Friendship Hospital over the period from December 2014 to August 2022. Results Xanthoma and decreased activity tolerance were the primary clinical manifestations in the 7 HoFH children initially assessed (one child died suddenly prior to surgery due to cardiac arrest). Accompanying these symptoms were increased blood total cholesterol (TC) and low density lipoprotein (LDL) levels, along with severe cardiovascular diseases. HoFH was confirmed in all cases by genetic and biochemical assays. Initial treatments administered to these patients consisted of low-fat diets and lipid-lowering drugs with poor outcomes. Accordingly, all 6 patients received orthotopic liver transplantations (OLT), with the result that significant postoperative reductions were observed in levels of TC and LDL. The median follow-up of these six cases was 37.41 months (range: 19.40–94.10 months). Regular postoperative follow-ups revealed that all survived and showed significant improvements in their clinical symptoms. Conclusion So far, LT is the only way to heal HoFH. LT before the appearance of obvious cardiovascular atherosclerotic lesions can significantly improve the quality of life and prognosis of patients. At the same time, the blood cholesterol level of patients should be continuously monitored after LT to further control the progression of vascular complications. |
| format | Article |
| id | doaj-art-b25570861e7d446e8b1bb7fe48b9138c |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-b25570861e7d446e8b1bb7fe48b9138c2025-01-19T12:38:29ZengBMCOrphanet Journal of Rare Diseases1750-11722025-01-012011910.1186/s13023-024-03443-zLiver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experienceHao-Su Zhan0Lin Wei1Wei Qu2Zhi-Gui Zeng3Ying Liu4Yu-Le Tan5Jun Wang6Liang Zhang7En-Hui He8Guang-Peng Zhou9Hai-Ming Zhang10Zhi-Jun Zhu11Li-Ying Sun12Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical UniversityLiver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical UniversityLiver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical UniversityLiver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical UniversityDepartment of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical UniversityLiver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical UniversityLiver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical UniversityLiver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical UniversityLiver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical UniversityLiver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical UniversityLiver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical UniversityLiver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical UniversityDepartment of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical UniversityAbstract Background Homozygous familial hypercholesterolaemia (HoFH) increases risk of premature cardiovascular events and cardiac death. In severe cases of HoFH, clinical signs and symptoms cannot be controlled well by non-surgical treatments, liver transplantation (LT) currently represents the viable option. Method To assess the clinical efficacy, prognosis, and optimal timing of LT for HoFH, a retrospective analysis was conducted on the preoperative, surgical conditions, and postoperative follow-up of children who received an LT for HoFH at the Beijing Friendship Hospital over the period from December 2014 to August 2022. Results Xanthoma and decreased activity tolerance were the primary clinical manifestations in the 7 HoFH children initially assessed (one child died suddenly prior to surgery due to cardiac arrest). Accompanying these symptoms were increased blood total cholesterol (TC) and low density lipoprotein (LDL) levels, along with severe cardiovascular diseases. HoFH was confirmed in all cases by genetic and biochemical assays. Initial treatments administered to these patients consisted of low-fat diets and lipid-lowering drugs with poor outcomes. Accordingly, all 6 patients received orthotopic liver transplantations (OLT), with the result that significant postoperative reductions were observed in levels of TC and LDL. The median follow-up of these six cases was 37.41 months (range: 19.40–94.10 months). Regular postoperative follow-ups revealed that all survived and showed significant improvements in their clinical symptoms. Conclusion So far, LT is the only way to heal HoFH. LT before the appearance of obvious cardiovascular atherosclerotic lesions can significantly improve the quality of life and prognosis of patients. At the same time, the blood cholesterol level of patients should be continuously monitored after LT to further control the progression of vascular complications.https://doi.org/10.1186/s13023-024-03443-zHomozygous familial hypercholesterolemiaLiver transplantationChildrenLong-term prognosisMetabolic liver diseaseCardiovascular disease |
| spellingShingle | Hao-Su Zhan Lin Wei Wei Qu Zhi-Gui Zeng Ying Liu Yu-Le Tan Jun Wang Liang Zhang En-Hui He Guang-Peng Zhou Hai-Ming Zhang Zhi-Jun Zhu Li-Ying Sun Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience Orphanet Journal of Rare Diseases Homozygous familial hypercholesterolemia Liver transplantation Children Long-term prognosis Metabolic liver disease Cardiovascular disease |
| title | Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience |
| title_full | Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience |
| title_fullStr | Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience |
| title_full_unstemmed | Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience |
| title_short | Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience |
| title_sort | liver transplantation for homozygous familial hypercholesterolemia a retrospective analysis from chinese experience |
| topic | Homozygous familial hypercholesterolemia Liver transplantation Children Long-term prognosis Metabolic liver disease Cardiovascular disease |
| url | https://doi.org/10.1186/s13023-024-03443-z |
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