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    Poster Networking

    Venous Thromboembolism

    Poster Networking Session

    PB1441 - The risk of recurrent venous thromboembolism of patients with homozygous or double heterozygous factor V Leiden and/or prothrombin G20210A mutation: a prospective cohort study

    Tuesday, June 27, 2023
    18:30 – 19:30 ET
    Room: Exhibition

      Presenting Author(s)

    • Lisbeth Eischer, MD

      MD
      Department of Medicine I, Medical University of Vienna, Vienna, Austria
      Vienna, Wien, Austria

      • Co-Author(s)

    • FW

      Florian Welzl

      Student
      Department of Medicine I, Medical University of Vienna
      Vienna, Wien, Austria

    • PK

      Paul A. Kyrle

      Professor
      Medical University of Vienna, Department of Medicine I
      Vienna, Wien, Austria

    • Sabine Eichinger, MD

      Professor
      Medical University of Vienna, Department of Medicine I
      Vienna, Wien, Austria

    Background: Homozygous/double heterozygous carriers of factor V Leiden (FVL) and/or the prothrombin G20210A mutation (PGM) have an increased risk of a first venous thromboembolism (VTE). Data on the risk of recurrent VTE in these patients are insufficient.

    Aims: To assess the recurrence risk of VTE patients with homozygosity/double heterozygosity of FVL and/or PGM.

    Methods: We prospectively followed homozygous/double heterozygous patients of FVL and/or PGM with a first deep vein thrombosis and/or pulmonary embolism after stopping anticoagulation. We excluded patients < 18 years, patients with VTE secondary to cancer, and those requiring indefinite anticoagulation. The study endpoint was symptomatic recurrent VTE. The recurrence risk was compared with a prospective cohort of 842 patients (heterozygous FVL 24% and PGM 5%) with a first unprovoked VTE.

    Results: Of 65 patients, 36 had homozygous FVL, 5 had homozygous PGM and 24 were double heterozygous. Median age was 35 years, 54% were women; the median observation time was 73 months. Incident VTE was unprovoked in 38 patients and provoked by transient risk factors in 27 patients. Recurrent VTE was recorded in 22 of the 65 patients. After 5 and 10 years, the probability of recurrence was 24% (95% CI 17-29) and 31% (95% CI 24-37) (Figure 1), and thus comparable to the probability of recurrence among patients with unprovoked VTE without homozygous/double heterozygous mutations [26% (95% CI 24-27) and 38% (95% CI 36-40), respectively]; HR adjusted for age and sex was 0.9 (95% CI 0.6-1.5). The recurrence risk was significantly lower in homozygous/double heterozygous patients with VTE provoked by a transient risk factor compared to patients with unprovoked VTE [HR adjusted for age and sex 0.3 (95% CI 0.1-0.8)].

    Conclusion(s): The risk of recurrent VTE among patients with homozygous/double heterozygous FVL and/or the PGM is high and similar to that of patients with unprovoked VTE.