Thrombophilic risk of individuals with rare compound factor V Leiden and prothrombin G20210A polymorphisms: an international case series of 100 individuals |
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| Authors: | Ming Y Lim Allison M Deal Steven Kim Michael D Musty Jacqueline Conard Paolo Simioni Fabienne Dutrillaux Suhair S Eid Saskia Middeldorp Walter M Halbmayer Bernard Boneu Marco Moia Stephan Moll |
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| Institution: | 1. Division of Hematology/Oncology, Department of Medicine, University of North Carolina, Chapel Hill, NC, USA;2. Lineberger Comprehensive Cancer Center Biostatistics Core, Chapel Hill, NC, USA;3. Hematology/Oncology, St. Jude Heritage Medical Group, Fullerton, CA, USA;4. Center for Applied Genomics & Precision Medicine, Duke University Medical Center, Durham, NC, USA;5. Haemostasis‐Thrombosis Unit, Hotel‐Dieu University Hospital, Paris, France;6. Department of Medicine – DIMED, University of Padua Medical School, Padua, Italy;7. Haemostasis Unit, University Hospital of Dijon, Dijon, France;8. Princess Iman Research and Laboratory Sciences Center, King Hussein Medical Center, Amman, Jordan;9. Academic Medical Center, Department of Vascular Medicine, Amsterdam, The Netherlands;10. Institute of Laboratory Medicine, Municipal Hospital Hietzing‐Rosenhuegel, Vienna, Austria;11. Haemostasis Laboratory, Rangueil Hospital, Toulouse, France;12. Angelo Bianchi Bonomi Hemophilia and Thrombosis Centre, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy |
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| Abstract: | The risk of thrombosis in individuals with rare compound thrombophilias, homozygous factor V Leiden (FVL) plus heterozygous prothrombin G20210A (PTM), homozygous PTM plus heterozygous FVL, and homozygous FVL plus homozygous PTM, is unknown. We identified, worldwide, individuals with these compound thrombophilias, predominantly through mailing members of the International Society on Thrombosis and Haemostasis. Physicians were sent a clinical questionnaire. Confirmatory copies of the genetic results were obtained. One hundred individuals were enrolled; 58% were female. Seventy‐one individuals had a venous thrombosis (includes superficial and deep vein thrombosis, and pulmonary embolism), 4 had an arterial thrombosis and 6 had both. Nineteen individuals had never had a thrombotic event. Thrombosis‐free survival curves demonstrated that 50% of individuals had experienced a thrombotic event by 35 yrs of age, while 50% had a first venous thromboembolic event (VTE; includes all venous thrombosis except superficial thrombosis) by 41 yrs of age; 38.2% of first VTEs were unprovoked. 37% of patients had at least one VTE recurrence. Seventy percent of first pregnancies carried to term and not treated with anticoagulation were thrombosis‐free. In conclusion, patients with these rare compound thrombophilias are not exceedingly thrombogenic, even though they have a substantial risk for VTE. |
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| Keywords: | factor V Leiden prothrombin thrombophilia thrombosis venous thromboembolism |
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