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Gain of function gene mutations and venous thromboembolism: Distinct roles in different clinical settings
  1. Donatella Colaizzo (d.colaizzo{at}operapadrepio.it)
  1. Unita' di Aterosclerosi e Trombosi, I.R.C.C.S., Italy
    1. Lucio Amitrano (ate.tro{at}operapadrepio.it)
    1. Ospedale A. Cardarelli Napoli, Italy
      1. Luigi Iannaccone (ate.tro{at}operapadrepio.it)
      1. Ospedale A. Cardarelli Napoli, Italy
        1. Patrizia Vergura (ate.tro{at}operapadrepio.it)
        1. Unita' di Aterosclerosi e Trombosi, I.R.C.C.S., Italy
          1. Filomena Cappucci Cappucci (ate.tro{at}operapadrepio.it)
          1. Unita' di Aterosclerosi e Trombosi, I.R.C.C.S., Italy
            1. Elvira Grandone (e.grandone{at}operapadrepio.it)
            1. Unita' di Aterosclerosi e Trombosi, I.R.C.C.S., Italy
              1. Maria A Guardascione (mariguard{at}aliceposta.it)
              1. Ospedale A. Cardarelli Napoli, Italy
                1. Maurizio Margaglione (m.margaglione{at}unifg.it)
                1. Istituto di Genetica Medica Università di Foggia, Italy

                  Abstract

                  Objective: To calculate the prevalence of common gain of function gene mutations in patients with different clinical manifestations of venous thromboembolism.

                  Design: Case-control study

                  Setting: Two hospitals in Italy

                  Participants: 387 patients with venous thromboembolism and 286 controls

                  Main measures: factor V Leiden, factor II A20210, and JAK2 V617F mutations

                  Main results: Among patients with deep vein thrombosis in one leg, 23 (20.9%) carried factor V Leiden and factor II A20210 mutations. Similar figures were observed in patients with cerebral vein thrombosis (n=9; 20.0%) and among patients presenting with splanchnic vein thrombosis (n=26; 18.7%). A lower prevalence was obtained in patients with retinal vein thrombosis (n=11; 11.8%). The JAK2 F617 mutant allele was found in 27 patients with splanchnic venous thrombosis (21.1%), and in none of the patients with a thrombotic event in different districts. Twelve of the 27 JAK2 V617F-positive subjects with splanchnic venous thrombosis were previously known to have a myeloproliferative disease. Five other patients had a diagnosis of myeloproliferative disease after the occurrence of the thrombotic event

                  Conclusion: Carriership of factor V Leiden or factor II A20210 mutations identifies an at-risk condition for venous thrombosis in the lower extremities, splanchnic or cerebral vein thrombosis. In patients with splanchnic venous thrombosis, screening for the JAK2 V617F mutation may be useful to recognize patients who should be carefully observed for the subsequent development of overt myeloproliferative disease. Thus, genetic tests may play a different role, various clinical manifestations of venous thromboembolism being associated with distinct risk profiles.

                  • Factor II
                  • Factor V
                  • JAK2
                  • genetic tests
                  • venous thrombosis

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