title: Heterozygous protein C deficiency and dysfibrinogenemia acquired by liver transplantation.
abstract: Orthotopic liver transplantation is now a successful treatment for end-stage liver diseases. Since most components of the coagulation system are synthesized by liver parenchymal cells, there is always a risk of genetic defects of hemostasis being transmitting by liver transplantation. Some coagulation factor defects, such as protein C deficiency, do not induce abnormalities in routine coagulation tests and, thus, go undetected before organ procurement. We report the first case, to our knowledge, of the transmission of heterozygous protein C deficiency, an autosomal recessive genetic defect, associated with dysfibrinogenemia, an autosomal dominant trait, by liver transplantation. Both the recipient and the donor presented with severe thrombotic complications. This case shows that potentially morbid genetic defects can be transmitted by organ transplantation, and it emphasizes the difficulty associated with organ procurement criteria, particularly for liver transplantation, in which routine blood tests appear insufficient for determining whether or not organs can or should be procured from a given donor.
authors.affiliation: Department of Liver Transplantation, Pellegrin University Hospital, Bordeaux, France.
authors.forename: M
authors.initials: M
authors.lastname: Cransac
authors.forename: J
authors.initials: J
authors.lastname: Carles
authors.forename: P H
authors.initials: PH
authors.lastname: Bernard
authors.forename: P
authors.initials: P
authors.lastname: Malavialle
authors.forename: G
authors.initials: G
authors.lastname: Freyburger
authors.forename: S
authors.initials: S
authors.lastname: Winnock
authors.forename: J
authors.initials: J
authors.lastname: Saric
mesh_terms: D000347:Afibrinogenemia / Q000097:blood / Q000235:genetics*; D018562:Disease Transmission, Infectious; D006801:Humans; D016031:Liver Transplantation / Q000009:adverse effects*; D008297:Male; D008875:Middle Aged; D011486:Protein C / Q000235:genetics; D020151:Protein C Deficiency
chemical_list: D011486:Protein C