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Updated: Mar 17, 2026
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Liver transplantation for homozygote familial hypercholesterolemia: the only curative treatment
Altan Alim1, Yaman Tokat1, Yalcin Erdogan1
1Department of General and Transplantation Surgery, University Hospital of the Istanbul Bilim University, Istanbul, Turkey.
Insights
Liver transplantation (LT) offers a cure for patients with homozygous familial hypercholesterolemia (FH), significantly reducing high cholesterol and LDL levels. Early LT is crucial before cardiovascular disease develops for optimal outcomes.
Area of Science:
- Cardiology
- Genetics
- Hepatology
Background:
- Familial hypercholesterolemia (FH) is an autosomal dominant disorder causing elevated total cholesterol (TC) and LDL levels.
- Untreated FH leads to early atherosclerosis, xanthomas, and severe cardiac complications, often in childhood.
- Current treatments include diet, medication, and lipid apheresis, but liver transplantation (LT) is the only curative option.
Purpose of the Study:
- To analyze the outcomes of pediatric liver transplantation (LT) in patients with homozygous familial hypercholesterolemia (FH).
- To evaluate the effectiveness of LT in managing extreme hypercholesterolemia and its impact on cardiovascular health in FH patients.
- To determine the optimal timing for LT in FH patients to prevent irreversible cardiovascular damage.
Main Methods:
- Retrospective analysis of data from eight pediatric patients with homozygous FH who underwent LT between 2004 and 2015.
- Assessment of pre-operative and post-operative lipid levels (TC and LDL).
- Review of patient outcomes, including mortality and pre-existing cardiovascular disease.
Main Results:
- Pediatric LT normalized TC and LDL levels within one week post-transplant (TC: 193 mg/dL, LDL: 141 mg/dL) from median pre-operative levels of 611 mg/dL and 574 mg/dL, respectively.
- Two patients (25%) died due to sudden cardiac arrest 2 and 18 months post-LT, both having pre-operative cardiovascular disease.
- LT effectively manages hypercholesterolemia, but regression of established cardiovascular disease post-transplantation is limited.
Conclusions:
- Liver transplantation is the sole curative treatment for homozygous familial hypercholesterolemia.
- Performing LT before the onset of significant cardiovascular disease is critical for achieving excellent long-term outcomes in FH patients.
- Early intervention with LT can prevent the progression of severe cardiovascular complications associated with FH.
Abstract:
FH is an autosomal dominant genetic disorder characterized by increased TC and LDL level, which leads to xanthomas, atherosclerosis, and cardiac complications even in childhood. The treatment options are diet, medical treatment, lipid apheresis, and LT. The aim of our study was to analyze our data of patients with FH. Between 2004 and 2015, there were 51 patients who underwent pediatric LT at our center. All patients with FH were identified, and the data were retrospectively analyzed. There were eight patients with homozygous FH in the median age of 10 years (IQR 6-12) who underwent LT. The median pre-operative TC and LDL levels were 611 mg/dL (IQR: 460-844) and 574 mg/dL (IQR: 398-728) and decreased to normal levels 1 week after LT (TC: 193 mg/dL and LDL: 141 mg/dL). Two patients died two and 18 months after LT due to sudden cardiac arrest. Both patients were diagnosed with cardiovascular disease pre-operatively. The LT is the only curative treatment for this disease. To achieve an excellent outcome, it should be performed before the development of cardiovascular disease, because the regression of severe cardiovascular disease after transplantation is limited.
