Living Donor Liver Transplantation for Homozygous Familial Hypercholesterolemia from a Donor with Heterozygous Hypercholesterolemia

Yasuhiro Shirahata, Naoki Kawagishi, Satoru Sekiguchi, Nobuhiro Ohkohchi* and Susumu Satomi

Division of Advanced Surgical Science and Technology, Graduate School of Medicine, Tohoku University
Department of Gastrointestinal Surgery, Institute of Clinical Medicine, University of Tsukuba*

Homozygous familial hypercholesterolemia is a rare inherited disease occurring approximately l per l 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.

Key words
homozygous familial hypercholesterolemia, living donor liver transplantation, donor with heterozygous familial hypercholesterolemia

Reprint requests
Yasuhiro Shirahata Division of Advanced Surgical Science and Technology, Graduate School of Medicine, Tohoku University
1-1 Seiryo-machi, Aobaku, Sendai, 980-8574 JAPAN

Accepted
July 28, 2004

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