Long-term outcome after living donor liver transplantation for two cases of homozygous familial hypercholesterolemia from a heterozygous donor.
OBJECTIVE
We experienced two pediatric siblings with homozygous familial hypercholesterolemia (FH) who received living donor liver transplantation (LDLT) from their parents who were heterozygous for FH.


METHODS
The elder brother presented orange cutaneous xanthomas and was diagnosed as homozygous FH at the age of one. The plasma lipid profile showed that his total cholesterol level was 898 mg/dL (23.2 mmol/L), LDL cholesterol level was 756 mg/dL (19.6 mmol/L) and triglyceride level was 60 mg/dL (0.7 mmol/L). There were no living donors with a normal LDL receptor in their family, and it was difficult to find a deceased donor in Japan; thus he underwent LDLT with his father as the donor. His sister was born 2 years after his LDLT. She underwent ABO-incompatible LDLT at the age of 2 with her mother as the donor.


RESULTS
The boy's liver function tests normalized immediately after transplantation, and his cholesterol has remained controlled at around 280 mg/dL (7.2 mmol/L), with HMG-CoA reductase inhibitor for 6 years after LDLT. The girl's cholesterol remained stable at around 280 mg/dL (7.2 mmol/L) under treatment with HMG-CoA reductase inhibitor two years after LDLT. At present, the four patients, including the two donors, are leading normal daily lives.


CONCLUSIONS
Living-donor liver transplantation from a donor with heterozygous FH is a feasible indication for the treatment of homozygous FH.
Kawagishi
Naoki
N
Division of Advanced Surgical Science and Technology, Graduate School of Medicine, Tohoku University, Seiryo-machi, Sendai, Japan.
Satoh
Kazushige
K
Akamatsu
Yorihiro
Y
Sekiguchi
Satoshi
S
Ishigaki
Yasushi
Y
Oikawa
Shinichi
S
Satomi
Susumu
S
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000235:genetics / Q000628:therapy*; D007223:Infant; D007564:Japan; D016031:Liver Transplantation; D019520:Living Donors; D008297:Male; D010290:Parents; D035781:Siblings; D013997:Time Factors
D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors