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Background: The factor V Leiden mutation is a common genetic risk factor for thromboembolism. After liver transplantation, patients may present with an acquired factor V phenotype – genotype discrepancy.
Case report: We present the history of a heterozygous carrier of the factor V Leiden mutation who needed liver transplantation because of coumarin-induced acute liver failure. This led to a phenotype – genotype discrepancy with apparent cure from the factor V Leiden carrier status.
Conclusions: To date the thromboembolic risk assessment regarding the need for postoperative prophylactic anti-coagulation in such patients has remained controversial with respect to the intracellular fraction of factor V in platelets. However, recent observations have shown that platelet factor V Leiden is endocytosed by megacaryocytes from plasma. Therefore, former assessments of an ongoing risk for thromboembolic events despite apparent cure of the factor V Leiden carrier status after liver transplantation should be corrected.
DOI: Clin. Lab. 2010;56:245-247
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