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Transmission of LDLR mutation from donor through liver transplantation resulting in hypercholesterolemia in the

K Nikkilä1, F Åberg, H Isoniemi

  • 1Transplantation and Liver Surgery Clinic, Helsinki University Hospital, Helsinki, Finland.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons
|September 19, 2014
PubMed

Insights

A liver transplant recipient developed severe hypercholesterolemia due to a mutation in the LDL receptor (LDLR) gene transmitted from the donor. This case highlights the rare possibility of donor-transmitted familial hypercholesterolemia (FH).

Area of Science:

  • Transplantation immunology and organ donation
  • Cardiovascular medicine and lipidology
  • Medical genetics and molecular biology

Background:

  • Donor-transmitted diseases are rare but possible in organ transplantation.
  • Familial hypercholesterolemia (FH), caused by LDL receptor (LDLR) gene mutations, affects 1/200-1/500 individuals globally.
  • The liver is crucial for lipoprotein metabolism, expressing abundant LDLR.

Purpose of the Study:

  • To report the first case of donor-transmitted LDLR mutation causing severe hypercholesterolemia post-liver transplantation (LT).
  • To emphasize the importance of considering donor-transmitted disorders in post-transplant hypercholesterolemia.

Main Methods:

  • A 42-year-old female liver transplant recipient presented with significantly elevated total and LDL cholesterol levels post-LT.
  • Genetic sequencing of the LDLR gene was performed on DNA from the patient's blood and a liver graft biopsy.
  • Clinical data including pre- and post-transplant lipid profiles were analyzed.

Main Results:

  • The patient's total cholesterol increased from 5.6 to 11.7 mmol/L and LDL cholesterol from 3.30 to 8.99 mmol/L within 6 months post-LT.
  • Sequencing revealed a heterozygous splicing mutation in the LDLR gene within the liver graft, but not in the patient's blood DNA.
  • This confirmed the LDLR mutation was transmitted via the donor liver graft.

Conclusions:

  • This is the first documented case of familial hypercholesterolemia transmitted through a liver transplant due to a donor LDLR mutation.
  • The findings underscore the necessity of evaluating donor-transmitted genetic disorders, particularly FH, in recipients with unexplained severe hypercholesterolemia.
  • Rethinking donor screening protocols may be warranted for specific genetic conditions impacting metabolic pathways.

Keywords:
Clinical research/practicedisease pathogenesisdonors and donationgeneticshyperlipidemialiver disease: congenitalliver transplantation/hepatologytranslational research/science

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