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

Shirahata, Yasuhiro; Kawagishi, Naoki; Sekiguchi, S.; Ohkohchi, Nobuhiro; Satoh, Susumu

doi:10.5833/jjgs.38.57

Cited by 16 publications

(27 citation statements)

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“…The levels of PIIINP were not significantly different, because serum PIIINP apparently reflects inflammation and necrosis in the liver rather than fibrogenesis. 3 The scores of both predictive models for hepatic fibrosis, including the APRI test and the Forns test, were also significantly reduced in our patients after treatment (Fig. 2).…”

Section: Long-term Effect Of Bezafibrate On Parameters Of Hepatic Fibmentioning

confidence: 78%

“…In Japan deceased donors are scarce, so LDLT is more feasible for homozygous FH. 3 Our patients showed that LDLT from a heterozygous or even an ABO-incompatible donor is effective for patients with homozygous FH, provided they are maintained on cholesterol-lowering drugs after transplantation.…”

Section: Two Cases In One Family Of Living Donor Liver Transplantatiomentioning

confidence: 93%

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Two cases in one family of living donor liver transplantation for homozygous familial hypercholesterolemia

et al. 2006

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We experienced two pediatric patients homozygous for familial hypercholesterolemia (FH) who received living donor liver transplantation (LDLT) from their parents, who were heterozygous for FH. The elder brother presented orange cutaneous xanthomas and was diagnosed homozygous FH at the age of 1 year. The plasma lipidogram showed that total cholesterol was 898 mg/dl, LDL cholesterol was 756 mg/dl, and the triglycerides level was 60 mg/dl. Cardiac ultrasonography showed no abnormal findings. He and his father had the same gene mutation of the LDL receptor. There were no ABO-compatible 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. The donor was heterozygous for FH, but we speculated that after LDLT total cholesterol could be controlled with anticholesterol agents. The graft was the lateral segment, and he was administered methylprednisolone and tacrolimus as immunosuppressive therapy. His liver function tests (LFTs) normalized immediately after transplantation, and his cholesterol has remained controlled at about 280 mg/dl with HMG-CoA reductase for 5 years after LDLT.His sister was born 2 years after his LDLT. The family had been well informed of the risk of having another baby heterozygous for FH. The plasma lipidogram showed that her total cholesterol was 857 mg/dl, LDL cholesterol was 689 mg/dl, and the triglycerides level was 173 mg/dl just after birth. She had symmetrical skin lesions on her hands. We informed the family that it was going to be very difficult to find a deceased donor, and the baby underwent ABO-incompatible LDLT with her mother as the donor at the age of 2 years. We performed plasma exchange twice before treatment to reduce the IgM and IgG hemagglutinin titers. One year after LDLT, her cholesterol remained stable at about 240 mg/dl under treatment with HMG-CoA reductase. At present, the four patients, including the two donors, are leading a normal daily life.FH is a disease caused by a mutant gene on chromosome 19 coding for the structure of the LDL receptor. 1 In the homozygous state, which occurs in only 1 in 1 million people, atherosclerosis progresses much more rapidly, producing cardiovascular disease and even causing death within the first two decades of life. LDL apheresis was introduced even for small children, but it has many difficulties such as long-term maintenance of blood access and a poor quality of life. Gene therapy has also been attempted, but it proved to be inefficient. Liver transplantation as a curative treatment for homozygous FH was introduced in 1984 2 because approximately 70% of LDL receptors are located in the liver. In Japan deceased donors are scarce, so LDLT is more feasible for homozygous FH. 3 Our patients showed that LDLT from a heterozygous or even an ABO-incompatible donor is effective for patients with homozygous FH, provided they are maintained on cholesterol-lowering drugs after transplantation. Fig. 2. a Minute, nodular, poorly circum...

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Section: Long-term Effect Of Bezafibrate On Parameters Of Hepatic Fibmentioning

confidence: 78%

Section: Two Cases In One Family Of Living Donor Liver Transplantatiomentioning

confidence: 93%

Two cases in one family of living donor liver transplantation for homozygous familial hypercholesterolemia

et al. 2006

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“…[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18] Hence, this is the first report of a child succumbing to severe cardiovascular atherosclerosis 10 years after successful LTx for homozygous hypercholesterolemia.…”

Section: Commentsmentioning

confidence: 97%

Fatal cardiac atherosclerosis in a child 10 years after liver transplantation: A case report and a review

El‐Rassi

Chehab

Saliba

et al. 2011

Journal of Clinical Lipidology

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“…However, successful outcomes of heart-liver transplantations in adults [86,87] and living-donor liver transplants in children [88] have been reported. With improved 4-year survival rate in liver transplantation now exceeding 70% [89], and recent advances in hepatocyte transplantation [90], these methods may in the future offer the potential for a definitive cure.…”

Section: Liver Transplantationmentioning

confidence: 98%

Current management of severe homozygous hypercholesterolaemias

Naoumova

Thompson²,

Soutar³

2004

Current Opinion in Lipidology

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Patients with severe homozygous hypercholesterolaemia illustrate the natural history of atherosclerosis within a condensed timeframe. Effective cholesterol-lowering treatment started in early childhood is essential to prevent onset of life-threatening atherosclerotic involvement of the aortic root and valve, and the coronary arteries. Noninvasive methods for regular monitoring of the major sites involved in the atherosclerotic process are necessary in patients with no symptoms or signs of ischaemia. Management of patients with severe homozygous hypercholesterolaemia continues to be a major challenge.

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

Cited by 16 publications

References 0 publications

Two cases in one family of living donor liver transplantation for homozygous familial hypercholesterolemia

Two cases in one family of living donor liver transplantation for homozygous familial hypercholesterolemia

Fatal cardiac atherosclerosis in a child 10 years after liver transplantation: A case report and a review

Current management of severe homozygous hypercholesterolaemias

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