Long-term follow-up of a patient with hypercholesterolaemia treated by liver transplantation

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.