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Is Liver Transplantation Alone an Effective Treatment for Homozygotic Familial Hypercholesterolemia in Children?
Hatice Yılmaz Dağlı1, Reha Artan1, Dudu Duygu Civan1
1Department of Pediatric Gastroenterology, Akdeniz University, Antalya, Turkey.
Insights
Liver transplantation (LT) for homozygous familial hypercholesterolemia (HoFH) in children did not effectively lower LDL cholesterol or prevent cardiovascular disease long-term. LT alone is not a cure for HoFH, highlighting the need for further treatment strategies.
Area of Science:
- Pediatric Cardiology
- Hepatology
- Genetics
Background:
- Homozygous familial hypercholesterolemia (HoFH) is a severe genetic disorder causing extremely high LDL cholesterol levels from birth.
- Early onset of cardiovascular disease is a major complication in pediatric HoFH patients.
- Liver transplantation (LT) has been explored as a potential treatment to correct the metabolic defect in HoFH.
Purpose of the Study:
- To evaluate the long-term efficacy and outcomes of liver transplantation (LT) in children and adolescents with homozygous familial hypercholesterolemia (HoFH).
- To assess the impact of LT on lipid profiles and the development of cardiovascular complications post-transplant.
Main Methods:
- A retrospective study included five pediatric patients who underwent LT for HoFH between 2007 and 2023.
- Data collected included demographics, clinical status, pre- and post-operative lipid levels, and follow-up of disease course and complications.
Main Results:
- Patients had significantly reduced total and LDL cholesterol post-LT (average total cholesterol 197 mg/dL, LDL 138 mg/dL) compared to pre-LT levels (923 mg/dL and 864 mg/dL, respectively).
- Despite lipid level improvements, 80% of patients developed atherosclerotic cardiovascular disease during a mean follow-up of 9.2 years.
- Two patients (40%) died due to cardiovascular complications, with no transplant-related deaths.
Conclusions:
- Liver transplantation alone does not achieve target LDL cholesterol levels in pediatric HoFH patients.
- LT did not prevent the development of cardiovascular disease in this cohort, indicating it is not a curative treatment for HoFH.
- Alternative or adjunctive therapies are necessary to manage cardiovascular risk in HoFH patients post-LT.
Aim:
To examine the long-term results and treatment effectiveness of liver transplantation (LT) in the treatment of homozygous familial hypercholesterolemia (HoFH) in children and adolescents.
Method:
Patients who underwent LT due to HoFH between 2007 and 2023 were included in the study. The patients' demographic data, clinical findings, preoperative and postoperative laboratory examinations, transplantation complications, and postoperative disease courses were evaluated.
Results:
There were five boys with an average age of 6.2 (median: 6, range 4-10) years in the study. The average total cholesterol level of the patients before transplantation was 923 (median: 950, range: 780-1002) mg/dL and the average LDL-cholesterol level was 864 (median: 852, range: 770-957) mg/dL. No patients died of transplant-related complications. After an average follow-up of 9.2 (median: 9, range: 1.5-16) years, the average total cholesterol level of the patients was 197 (median: 164, range: 137-359) mg/dL, and the average LDL-cholesterol level was 138 (median: 92, range: 85-313) mg/dL. Four (80%) patients developed atherosclerotic cardiovascular disease during follow-up, and two (40%) died of this cause.
Conclusion:
LT in the treatment of HoFH did not help our patients reach the target LDL-cholesterol level after transplantation and did not prevent the development of cardiovascular disease. Therefore, LT alone is not curative in the treatment of HoFH.
