Background: Activated protein C resistance (APCR) is the most common hereditary risk factor for venous thromboembolism (VTE) in Caucasian population. Approximately 90–95% of cases, the coagulation disorder results from factor V Leiden (FVL) mutation (R506Q) in the factor V (FV) gene causing activated FV to be resistant to cleavage by APC. It has been established that liver transplantation (LTX) and stem cell transplantation (SCTX) recipients are at risk of VTE. Recipients of these transplants can acquire or lose APCR and FVL mutation.
Aims: To investigate genotype and phenotype discrepancies for FVL mutation in recipients of LTX and SCTX both associated with deep vein thrombosis (DVT).
Methods: First case was 68-year-old male who presented with a DVT nine months post LTX for liver cirrhosis. Second case was 42-year-old female who presented with a CRT four months post SCTX for AML. Both patients reported no history of thrombosis prior to transplantation. Thrombophilia assays were performed using HemosIL® reagents on the ACL TOP CTS 500 and AcuStar analysers (Instrumentation Laboratory; Werfen). Molecular thrombophilia assays for FVL and prothrombin gene (G20210A) mutations were performed using the Qiagen Rotor-Gene by PCR and HRM analysis.
Results: APCR was detected in both patients with ratios of 1.75 and 1.64 for case one and two respectively (normal APCR ratio 2.2–3.3). All other thrombophilia assays were negative. In case one, APCR was acquired and detected in donor liver and the recipient’s leucocyte DNA lacked FVL mutation. In case two, APCR was inherited and detected in the recipient’s liver and the peripheral leucocyte DNA of the donor lacked the FVL mutation. Since both patients reported no history of thrombosis, thrombophilia testing was never previously indicated.
Conclusions: Consideration should be given to thrombophilia testing of LTX and SCTX donors and recipients which may indicate anticoagulation to prevent additional morbidity.
To cite this abstract in AMA style:Rigano J. Discrepancy between Genotype and Phenotype for Factor V Leiden Mutation in Recipients of Liver and Stem Cell Transplantation [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 1). https://abstracts.isth.org/abstract/discrepancy-between-genotype-and-phenotype-for-factor-v-leiden-mutation-in-recipients-of-liver-and-stem-cell-transplantation/. Accessed September 24, 2021.
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