Living-donor liver transplantation for homozygous familial hypercholesterolemia from a donor with heterozygous hypercholesterolemia.
Familial hypercholesterolemia is a rare inherited disease with an incidence of approximately one per million. Severe hypercholesterolemia is observed from the time of birth onwards. It is associated with severe atherosclerosis in childhood, leading to death from myocardial infarction before the age of 20 years. Liver transplantation is the only effective treatment for this disease. We experienced the case of an infant aged 2 years 5 months who had homozygous familial hypercholesterolemia and who received a liver graft from his father, who had familial heterozygous hypercholesterolemia. The pre-operative plasma cholesterol level was >800 mg/dl. After liver transplantation, the recipient's cholesterol level decreased to 250 mg/dl after we administered the HMG-CoA reductase inhibitor. At present, 6 months after transplantation, the patient is doing well and free from a special diet. We can thus conclude that the combination therapy of liver transplantation from a donor with heterozygous familial hypercholesterolemia on cholesterol-lowering drugs is an effective therapy for a patient with the homozygous type of hypercholesterolemia.
Division of Advanced Surgical Science and Technology, Graduate School of Medicine, Tohoku University, Seiryo machi 1-1, Aobaku, 980-8574, Sendai, Japan. sirahata@mail.cc.tohoku.ac.jp
Yasuhiro
Y
Shirahata
Nobuhiro
N
Ohkohchi
Naoki
N
Kawagishi
Masaru
M
Syouji
Sigeki
S
Tsukamoto
Satoru
S
Sekiguchi
Nozomisa
N
Koyamada
Sinichi
S
Oikawa
Susumu
S
Satomi
D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D005220:Fathers; D006580:Genetic Carrier Screening; D006499:Hepatic Artery / Q000473:pathology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000601:surgery*; D016031:Liver Transplantation / Q000473:pathology*; D019520:Living Donors; D008297:Male; D011184:Postoperative Period
D002784:Cholesterol