Living donor liver transplantation for homozygous familial hypercholesterolemia from a donor with heterozygous hypercholesterolemia

Homozygous familial hypercholesterolemia is a rare inherited disease occurring approximately 1 per 1 million people. Severe hyper-cholesterolemia is observed from birth, associated with severe pediatric athero-sclerosis, leading to death due to myocardial infarction before the age of 20 years. Liver transplantation is the only effective treatment. We report a 2-year 5-month-old infant with homozygous familial hyper-cholesterolemia who underwent a liver graft from his father, who had the same disease of heterotype. Preoperative plasma cholesterol was > 800 mg/dl. After liver transplantation, the recipient's cholesterol level decreased to 250-300 mg/dl using the HMG-CoA reductase inhibitor. At 43 months after transplantation, the patient is doing well and eating freely. The combination of liver transplantation from a donor with heterozygous familial hypercholesterolemia and cholesterol-lowering drugs is effective in treating such patients.