Article

Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature.

Transplant Center, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
American Journal of Transplantation (Impact Factor: 6.19). 08/2006; 6(7):1743-5. DOI: 10.1111/j.1600-6143.2006.01363.x
Source: PubMed

ABSTRACT Transmission of congenital clotting factor deficiencies after orthotopic liver transplantation is rare. There are published reports of liver donor-to-recipient transmission of protein C deficiency with dysfibrinogenemia, protein S, factor VII and factor XI deficiencies. We report a case of transmission of factor XII deficiency with liver transplantation in a patient with Budd-Chiari syndrome. There was a persistent elevation of the activated partial thromboplastin time (aPTT), but no evidence of bleeding while the patient was maintained on warfarin. The presence of a persistently abnormal aPTT may raise suspicion for the presence of a clotting factor deficiency; however, deficiencies of other clotting factors may not be readily apparent on routine blood tests performed in a donor. Being aware of the possibilities of transmission of these inherited deficiencies of coagulation factors will aid in their early detection and management in the transplant donor and recipient.

1 Follower
 · 
88 Views
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Pseudoxanthoma elasticum (PXE) is thought to be a metabolic disorder resulting from mutations in the gene encoding the cellular transporter, ABCC6, which is primarily expressed in liver and kidney. We encountered 3 patients who developed clinical and histopathological evidence of PXE after liver transplantation, suggesting that PXE could have been acquired from the transplanted organ. We sought to delineate the clinical features and screen each patient and samples of donor liver for mutations in the ABCC6 gene. Each patient underwent full clinical examination, skin biopsy, and ophthalmologic examination, and whole genome sequencing using standard techniques. Fixed samples of donor liver tissue were available for mutation analysis in two patients and of donor kidney tissue in one. All 3 patients had unequivocal clinical and histopathologic evidence of PXE. No patient (or family member available for screening) had evidence of mutations in ABCC6. Neither liver specimen nor the single available kidney specimen showed evidence of mutations in ABCC6. Liver tissue was not available from one patient and DNA was of poor quality in another, resulting in limited screening. Genetic testing does not detect ABCC6 mutations in 10% of patients with confirmed PXE. Although we were unable to demonstrate ABCC6 mutations in limited screening of fixed donor livers, the absence of any PXE mutations in the affected patients, the timing of onset of PXE, and the known acquisition of other metabolic disorders and coagulopathies from donor livers suggest that PXE was likely acquired via liver transplantation.
    Journal of the American Academy of Dermatology 03/2011; 64(5):873-8. DOI:10.1016/j.jaad.2010.03.030 · 5.00 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Metabolic diseases that involve the liver represent a heterogeneous group of disorders. Apart from the metabolic defect, the subject's liver functions may be normal. With the increasing need for organs, livers from donors with metabolic diseases other than familial amyloid polyneuropathy might be possibly used for transplantation. However, whether such livers qualify as grafts and how they might impact recipient outcome are still unanswered questions. This review of the literature summarizes current experience in the use of such grafts in the context of cadaveric, domino, and living-related liver transplantation.
    Digestive and Liver Disease 11/2014; DOI:10.1016/j.dld.2014.11.004 · 2.89 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Protein S deficiency is a thrombophilia associated with increased risk of thromboembolic episodes in affected patients. Traditionally, protein S deficiency in a potential donor was considered an absolute contraindication to living donor liver transplantation, both due to the increased risk incurred by the thrombophilic donor as well as the risk of transmitting the thrombophilia to the liver recipient, as protein S is predominantly produced by the liver. We present the first successful case of living donor liver transplantation using a donor with asymptomatic protein S deficiency. Interestingly, whereas the donor continued to have protein S levels approximately 50% of normal, the recipient maintained normal levels of protein S post-transplant, potentially due to compensation by extra-hepatic protein S production. We discuss the prior literature of protein S deficiency acquired via liver transplantation, and we evaluate potential criteria by which the safety of transplants utilizing this pool of donors may be enhanced.
    Transplant International 12/2011; 25(2):e23-6. DOI:10.1111/j.1432-2277.2011.01404.x · 3.16 Impact Factor

Preview

Download
0 Downloads