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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience
Hao-Su Zhan1,2,3, Lin Wei2,3,4, Wei Qu2,3,4
1Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Insights
Liver transplantation (LT) offers a cure for homozygous familial hypercholesterolaemia (HoFH). Early LT significantly improves patient quality of life and long-term prognosis by reducing cholesterol levels.
Area of Science:
- Cardiology
- Hepatology
- Genetics
Background:
- Homozygous familial hypercholesterolaemia (HoFH) poses a significant risk for premature cardiovascular events and mortality.
- Severe HoFH cases often show limited response to non-surgical interventions, making liver transplantation (LT) a critical option.
Purpose of the Study:
- To evaluate the clinical effectiveness, prognosis, and optimal timing of LT for pediatric HoFH patients.
- To analyze outcomes of LT in children with HoFH at Beijing Friendship Hospital.
Main Methods:
- Retrospective analysis of 7 children with HoFH who underwent LT between December 2014 and August 2022.
- Assessment included preoperative conditions, surgical procedures, and postoperative follow-up.
- Genetic and biochemical assays confirmed HoFH diagnosis.
Main Results:
- Six out of seven HoFH children received orthotopic liver transplantation (OLT) after initial treatments failed.
- Post-OLT, significant reductions in total cholesterol (TC) and low-density lipoprotein (LDL) were observed.
- All surviving patients showed improved clinical symptoms, with a median follow-up of 37.41 months.
Conclusions:
- LT is currently the only curative treatment for HoFH.
- Performing LT before significant atherosclerotic lesions develop improves patient quality of life and prognosis.
- Continuous monitoring of cholesterol levels post-LT is essential to manage vascular complications.
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.
