Thrombophilic Risk of Individuals with Rare Compound Factor V Leiden and Prothrombin G20210A Polymorphisms: An International Case-Series of 100 Ind... - PubMed - NCBI
Thrombophilic Risk of Individuals with Rare Compound Factor V Leiden and Prothrombin G20210A Polymorphisms: An International Case-Series of 100 Individuals.
Lim MY1,
Deal AM2,
Kim S3,
Musty MD4,
Conard J5,
Simioni P6,
Dutrillaux F7,
Eid SS8,
Middeldorp S9,
Halbmayer WM10,
Boneu B11,
Moia M12,
Moll S1.
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% 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 years of age, while 50% had a first venous thromboembolic event (VTE; includes all venous thrombosis except superficial thrombosis) by 41 years of age; 38.2% of first VTE events 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 thrombogeneic, even though they have a substantial risk for VTE. This article is protected by copyright. All rights reserved.
This article is protected by copyright. All rights reserved.
KEYWORDS:
factor V Leiden; prothrombin; thrombophilia; thrombosis; venous thromboembolism
- PMID:
- 26773706
- [PubMed - as supplied by publisher]
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