Abstract:
Familial hypercholesterolaemia is a life-threatening inborn error of metabolism characterised by extremely high serum
cholesterol levels. The disease manifests clinically as advanced atherosclerosis, cardiovascular disease and premature
death. In 1973 Goldstein and Brown described the abnormality causing the hypercholesterolaemia. They described mutations in a gene coding for the receptor responsible for transporting low-density lipoprotein (LDL) into cells. However, no specific treatment has been described and
optimal treatment remains elusive. Management includes diet, cholesterol-lowering drugs and apheresis. Surgical
options that have been applied and abandoned are ileal bypass and porto-systemic shunting. Since the 1980s liver
transplantation has been successfully applied to this condition. We describe the long-term follow-up of a patient treated
successfully with liver transplantation.
