Key result
Liver transplantation vastly improved the lipid profile in an Australian adult with homozygous familial hypercholesterolaemia.
Why the study?
Does liver transplantation improve the lipid profile in an adult with homozygous familial hypercholesterolaemia?
Case Report (n=1)
Does liver transplantation improve the lipid profile in an adult with homozygous familial hypercholesterolaemia?
Liver transplantation can vastly improve the lipid profile in patients with homozygous familial hypercholesterolaemia when standard therapies are insufficiently effective.
May support liver transplantation in refractory HoFH; leaves open need for prospective trials on durability and safety.
Homozygous familial hypercholesterolaemia (FH) causes severe premature coronary artery disease because of very high levels of low density lipoprotein (LDL)-cholesterol. Standard lipid-lowering drugs and LDL-apheresis may not be sufficiently effective. Liver transplantation replaces defective LDL receptors and vastly improves the lipid profile, and we present the first report of an Australian adult to receive this treatment. Emerging drug treatments for FH may be alternatives to LDL-apheresis and transplantation, but long-term safety and efficacy data are lacking for all of these options.
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Page et al. (2014) conducted a case report in Homozygous familial hypercholesterolaemia (n=1). Liver transplantation was evaluated. Liver transplantation vastly improved the lipid profile in an Australian adult with homozygous familial hypercholesterolaemia.
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