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Updated: Jun 22, 2026
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Domino liver graft from a patient with homozygous familial hypercholesterolemia
Chinsu Liu1, Dau-Ming Niu, Che-Chuan Loong
1Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan. csliu@vghtpe.gov.tw
Insights
This study demonstrates the successful use of a familial hypercholesterolemia (FH) liver as a domino graft in liver transplantation. This approach can expand the donor pool for patients needing transplants.
Area of Science:
- Hepatology
- Metabolic Diseases
- Transplantation Immunology
Background:
- Familial hypercholesterolemia (FH) is a genetic metabolic disorder characterized by high plasma cholesterol levels from birth.
- Defective synthesis of low-density lipoprotein receptors (LDL-Rs) leads to severe atherosclerosis and early mortality, often before age 20.
- The liver is the primary site of LDL-Rs, making liver transplantation a potential treatment.
Observation:
- The liver of an FH patient, lacking functional LDL-Rs, was utilized as a domino graft.
- The recipient had normal plasma cholesterol levels pre-transplantation.
- Extra-hepatic LDL-Rs in the recipient compensated for the absent hepatic LDL-Rs.
Findings:
- Successful domino liver transplantation using an FH liver graft was achieved.
- This innovative approach offers a viable strategy for managing FH.
- The study highlights the potential of FH livers in expanding the donor organ pool.
Implications:
- Domino liver transplantation using FH grafts can increase organ availability, particularly in regions with high FH prevalence.
- Careful selection of domino recipients is crucial for successful outcomes.
- This strategy may offer a life-saving option for patients with hypercholesterolemia and other liver conditions.
Abstract:
HFH is a metabolic disease caused by a defect in the gene that encodes the synthesis of the cellular receptor for LDL-Rs. A high plasma level of cholesterol is present from birth and leads to severe atherosclerosis in childhood, and death from myocardial infarction usually occurs before the age of 20 yr. The liver contains approximately 50-75% of the total body LDL-Rs; therefore, liver transplantation has been carried out to treat this metabolic disorder effectively. The rationale for using an HFH liver for a domino graft is that the absence of functional LDL-Rs in the liver may be compensated for by the extra-hepatic LDL-Rs. Therefore, an HFH liver can possibly be used as a domino graft for a recipient with a normal plasma cholesterol level before transplantation. We herein report a domino liver transplantation using an HFH liver as a domino graft with successful results. To expand the donor pool, especially in Asian countries, domino grafts from HFH should be encouraged by careful selection of the domino recipient.
