Thrombophilic risk of individuals with rare compound factor V Leiden and prothrombin G20210A polymorphisms: an international case series of 100 individuals

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)353-360
Number of pages8
JournalEuropean Journal of Haematology
Volume97
Issue number4
DOIs
Publication statusPublished - Oct 1 2016

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Keywords

  • factor V Leiden
  • prothrombin
  • thrombophilia
  • thrombosis
  • venous thromboembolism

ASJC Scopus subject areas

  • Medicine(all)
  • Hematology

Cite this

Lim, M. Y., Deal, A. M., Kim, S., Musty, M. D., Conard, J., Simioni, P., Dutrillaux, F., Eid, S. S., Middeldorp, S., Halbmayer, W. M., Boneu, B., Moia, M., & Moll, S. (2016). Thrombophilic risk of individuals with rare compound factor V Leiden and prothrombin G20210A polymorphisms: an international case series of 100 individuals. European Journal of Haematology, 97(4), 353-360. https://doi.org/10.1111/ejh.12738