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 language | English |
|---|---|
| Pages (from-to) | 353-360 |
| Number of pages | 8 |
| Journal | European Journal of Haematology |
| Volume | 97 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 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
Thrombophilic risk of individuals with rare compound factor V Leiden and prothrombin G20210A polymorphisms : an international case series of 100 individuals. / Lim, Ming Y.; Deal, Allison M.; Kim, Steven; Musty, Michael D.; Conard, Jacqueline; Simioni, Paolo; Dutrillaux, Fabienne; Eid, Suhair S.; Middeldorp, Saskia; Halbmayer, Walter M.; Boneu, Bernard; Moia, Marco; Moll, Stephan.
In: European Journal of Haematology, Vol. 97, No. 4, 01.10.2016, p. 353-360.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Thrombophilic risk of individuals with rare compound factor V Leiden and prothrombin G20210A polymorphisms
T2 - an international case series of 100 individuals
AU - Lim, Ming Y.
AU - Deal, Allison M.
AU - Kim, Steven
AU - Musty, Michael D.
AU - Conard, Jacqueline
AU - Simioni, Paolo
AU - Dutrillaux, Fabienne
AU - Eid, Suhair S.
AU - Middeldorp, Saskia
AU - Halbmayer, Walter M.
AU - Boneu, Bernard
AU - Moia, Marco
AU - Moll, Stephan
PY - 2016/10/1
Y1 - 2016/10/1
N2 - 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.
AB - 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.
KW - factor V Leiden
KW - prothrombin
KW - thrombophilia
KW - thrombosis
KW - venous thromboembolism
UR - http://www.scopus.com/inward/record.url?scp=84986596856&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84986596856&partnerID=8YFLogxK
U2 - 10.1111/ejh.12738
DO - 10.1111/ejh.12738
M3 - Article
C2 - 26773706
AN - SCOPUS:84986596856
VL - 97
SP - 353
EP - 360
JO - European Journal of Haematology
JF - European Journal of Haematology
SN - 0902-4441
IS - 4
ER -