title: Homozygous familial hypercholesterolemia: specific indication for domino liver transplantation.
abstract: BACKGROUND
  Domino liver transplantation is one possibility to overcome the discrepancy between the small number of liver donors and the long waiting lists. Homozygous familial hypercholesterolemia (FHC) is a genetic disorder of lipoprotein metabolism defined by the absence or small number of functional low-density lipoprotein receptors (LDL-Rs) and the ensuing high levels of serum cholesterol. We report a case of a patient with FHC whose liver was used for domino transplantation in a patient with cirrhosis and hepatocellular carcinoma.
  
  
  METHODS
  The patient diagnosed with FHC received the large part of a split liver. The liver of the patient with FHC was then transplanted into the patient with cirrhosis and hepatocellular carcinoma. Quantification of extrahepatic LDL-R was performed by flow cytometry on monocytes, and the gene expression of LDL-R was assayed by reverse transcriptase-polymerase chain reaction on monocyte-derived macrophages and cultured fibroblasts isolated from the patients.
  
  
  RESULTS
  One year after surgery, the donor's serum cholesterol (without treatment) was normal, and the recipient's serum cholesterol (with simvastatin treatment) was slightly increased. Quantification of peripheral LDL-R on monocytes isolated from the patients revealed values of 6.7% in the patient with FHC and 71% in the patient with cirrhosis and hepatocellular carcinoma. The reverse transcriptase-polymerase chain reaction assay revealed the presence of gene expression for LDL-R.
  
  
  CONCLUSIONS
  Domino transplantation can be efficiently used in a patient with marginal indications for transplantation using a liver from a patient with FHC. The slightly elevated serum cholesterol level in the recipient may be explained by the normal function of extrahepatic LDL-R.
authors: Center of General Surgery and Liver Transplantation, Fundeni Clinical Institute, Bucharest, Romania. irinel.popescu@icfundeni.ro
authors: Irinel
authors: I
authors: Popescu
authors: Maya
authors: M
authors: Simionescu
authors: Dan
authors: D
authors: Tulbure
authors: Anca
authors: A
authors: Sima
authors: Cosmin
authors: C
authors: Catana
authors: Loredan
authors: L
authors: Niculescu
authors: Nicolae
authors: N
authors: Hancu
authors: Liana
authors: L
authors: Gheorghe
authors: Mariana
authors: M
authors: Mihaila
authors: Silviu
authors: S
authors: Ciurea
authors: Viorica
authors: V
authors: Vidu
mesh_terms: D005260:Female; D006498:Hepatectomy / Q000379:methods; D006509:Hepatitis B / Q000601:surgery*; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000601:surgery*; D008113:Liver Neoplasms / Q000601:surgery*; D016031:Liver Transplantation / Q000379:methods*; D019520:Living Donors; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011973:Receptors, LDL / Q000097:blood / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D020858:Tissue and Organ Harvesting / Q000379:methods
chemical_list: D011973:Receptors, LDL