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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 hypercholesterolaemia
Gilbert R Thompson1, Shahenaz Walji2, Jaimini Cegla1,2
1Division of Diabetes, Endocrinology and Metabolism, Imperial College London.
Insights
Liver transplantation effectively lowers LDL in homozygous familial hypercholesterolaemia (HoFH) but carries significant risks. It is reserved for patients unresponsive to other treatments due to potential complications from lifelong immunosuppression.
Area of Science:
- Cardiovascular Medicine
- Hepatology
- Transplantation Surgery
Background:
- Homozygous familial hypercholesterolaemia (HoFH) is a severe genetic disorder characterized by extremely high LDL cholesterol levels.
- Current management strategies for HoFH include apheresis and lomitapide, which have limitations in efficacy and safety.
Purpose of the Study:
- To review the role of liver transplantation in managing HoFH.
- To evaluate the outcomes and risks associated with liver transplantation in HoFH patients.
Main Methods:
- Systematic review of worldwide reports published in the last 10 years.
- Analysis of the rationale and outcomes of liver transplantation for HoFH in pediatric and adult populations.
- Inclusion of data on liver and heart transplantation for other conditions.
Main Results:
- Liver transplantation demonstrates superior LDL-lowering capacity compared to apheresis and lomitapide.
- Reports detail the application of liver transplantation in both children and adults with HoFH.
- Data on liver and heart transplantation for various other disorders are also presented.
Conclusions:
- Liver transplantation is a highly effective treatment for HoFH, surpassing current alternatives in LDL reduction.
- However, the procedure is associated with substantial post-transplant morbidity and mortality, primarily due to long-term immunosuppressive therapy.
- Consequently, liver transplantation is indicated only for HoFH patients who have failed to achieve adequate lipid control with optimal medical therapy.
Purpose Of Review:
The review focusses on the role of liver transplantation, and rarely combined liver and heart transplantation, in the current management of homozygous familial hypercholesterolaemia (HoFH).
Recent Findings:
The review features world-wide reports published during the past 10 years describing the rationale and outcomes of liver transplantation for children and adults with HoFH. It also provides information on the scale of liver and heart transplantation for a variety of other disorders.
Summary:
Liver transplantation provides a more effective means of lowering LDL than currently available alternatives such as apheresis and lomitapide but carries with it an unacceptably high risk of posttransplant morbidity and mortality. This is mainly due to the adverse effects of life-long immunosuppressive drug therapy, which restricts the use of liver transplantation to those HoFH patients in whom optimal medical therapy has failed.
