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Updated: Jun 20, 2026
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: two case reports
F Kakaei1, S Nikeghbalian, K Kazemi
1Shiraz Transplant Center, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Insights
Liver transplantation effectively treats homozygous familial hypercholesterolemia (HFHC), a rare genetic disorder. This procedure normalizes cholesterol levels, preventing early cardiovascular death in affected children.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Transplantation Surgery
Background:
- Homozygous familial hypercholesterolemia (HFHC) is a rare, severe genetic disorder affecting 1 in a million individuals.
- Characterized by extremely high low-density lipoprotein (LDL) cholesterol levels, leading to premature atherosclerosis and early cardiovascular death.
- Current treatments are limited, with liver transplantation being the only definitive therapy to normalize lipid levels.
Observation:
- The study reports on two pediatric cases of HFHC undergoing liver transplantation.
- A 15-year-old boy received a whole liver, and an 11-year-old boy received a partial liver transplant from a living related donor.
- Both patients presented with severely elevated cholesterol (>750 mg/dL) and significant cardiovascular disease, including one requiring prior coronary artery bypass grafting.
Findings:
- Post-transplantation, both patients experienced rapid normalization of plasma lipid concentrations within the first week.
- Lipid levels remained within the normal range during the 6-month follow-up period.
- Successful immunosuppression was achieved with standard protocols (methylprednisolone, prednisolone, mycophenolate mofetil, tacrolimus).
Implications:
- Liver transplantation is a highly effective treatment for homozygous familial hypercholesterolemia.
- Early intervention before severe atherosclerotic changes is crucial for better outcomes.
- Comprehensive cardiac evaluation prior to transplantation is essential for patient selection and management.
Abstract:
Homozygous familial hypercholesterolemia (HFHC) is a rare inherited condition with an incidence of one in one million. It is associated with severe premature atherosclerosis and early death from cardiovascular complications. Mutation in the gene that encodes the synthesis of the cellular receptor for low-density lipoprotein (LDL) is responsible for this metabolic disorder. Currently, the only effective treatment for this disease is liver transplantation, which alone or in association with medications, normalizes plasma cholesterol level. The authors report the results of liver transplantation for two cases of HFHC. The first case, a 15-year-old boy received a whole liver from a deceased donor, and the second, an 11-year-old boy, received a left liver lobe transplant from his mother's sister. Their preoperative fasting lipid concentrations were grossly raised. The older boy had severe atherosclerotic heart disease and had undergone coronary artery bypass grafting 5 months before transplantation. Both had preoperative plasma cholesterol levels higher than 750 mg/dL with normal thyroid and liver function tests. After the operation, the patients received methylprednisolone as pulse therapy followed by oral prednisolone, mycophenolate mofetil, and tacrolimus for immunosuppression. Their hospital stays were 24 and 13 days, respectively. The first case needed reexploration because of bleeding on the second day after the operation. The lipid concentrations rapidly returned to the normal range in the first week after the operation, remaining in this range over the first 6 months of follow-up. Liver transplantation offers an highly effective treatment for HFHC. It is better to operate on patients before severe atherosclerotic changes in the coronary arteries. All patients must undergo a complete cardiac evaluation before surgery.
