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Liver transplantation for homozygous familial hypercholesterolaemia
S P Revell1, G Noble-Jamieson, P Johnston
1Department of Paediatrics, Addenbrookes NHS Trust, Cambridge.
Insights
Liver transplantation effectively treats homozygous familial hypercholesterolaemia, a rare genetic disorder. Early intervention before advanced heart disease is crucial for optimal outcomes in affected children.
Area of Science:
- Cardiovascular Medicine
- Hepatology
- Genetics
Background:
- Homozygous familial hypercholesterolaemia (HoFH) is a rare, inherited disorder affecting approximately one in a million individuals.
- HoFH leads to severe, premature atherosclerosis and early mortality due to cardiovascular complications.
- Previous liver transplantations for HoFH showed only partially effective lipid reduction.
Observation:
- Three male adolescents (aged 10.0–15.1 years) with HoFH underwent liver transplantation.
- All patients presented with severely elevated fasting lipid levels and coronary artery disease.
- Two patients experienced exertional angina; one required consideration for coronary artery bypass surgery prior to transplant.
Findings:
- Post-transplantation, all three patients exhibited rapid normalization of lipid concentrations.
- Operative and postoperative courses were uncomplicated for all recipients.
- One patient required re-transplantation due to chronic rejection; all are currently well with normal liver function and on regular diets.
Implications:
- Liver transplantation is a highly effective treatment for the life-threatening condition of HoFH.
- Optimal timing is critical, recommending transplantation before significant coronary artery disease progression.
- While immediate risks are low in suitable pediatric candidates, chronic rejection remains a long-term concern.
Abstract:
Homozygous familial hypercholesterolaemia is a rare inherited condition with an incidence of approximately one in a million. It is associated with severe premature atherosclerosis and early death from cardiovascular complications. The results of liver transplantation reported to date have suggested only partially effective reduction of the hypercholesterolaemia. Three boys with familial hypercholesterolaemia, aged 10.0 to 15.1 years, received liver grafts at Addenbrooke's Hospital. Their untreated fasting lipid concentrations were grossly raised. All three had angiographic evidence of coronary atheroma and two had exertional angina. One child had such severe atheroma that coronary artery bypass surgery was considered necessary before liver transplantation. All three had straightforward operative and postoperative courses and their lipid concentrations returned rapidly to normal. One boy developed chronic rejection requiring retransplantation. Currently all three boys are well, on normal diets, and with normal liver function. It is concluded that (1) liver transplantation offers highly effective treatment for this lethal condition, (2) timing the operation is difficult but it should be undertaken before coronary artery disease has progressed too far (when combined liver and heart transplantation may be the only possibility), and (3) in well grown children with no previous abdominal surgery the immediate risks of liver transplantation are low but chronic rejection remains a danger.