Assessment of a next generation sequencing gene panel strategy in 133 patients with negative thrombophilia screening.

Background: Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment.

Objectives: We report the results of a panel strategy after 3 years of application.

High risk of long-term recurrence after a first episode of venous thromboembolism during pregnancy or postpartum: the REcurrence after a PrEgnAncy related Thrombosis (REPEAT) Study.

Background: The long-term recurrence risk after a pregnancy-associated venous thromboembolism (VTE) is sparsely assessed.

Objectives: To determine the rate of recurrence after a pregnancy-associated VTE and identify associated risk factors.

Methods: Five hundred eighty-seven women with a history of first VTE occurring during pregnancy or up to 3 months after delivery were referred to La Timone Hospital, Marseille, France.

Common Risk Factors Add to Inherited Thrombophilia to Predict Venous Thromboembolism Risk in Families.

The clinical venous thromboembolism (VTE) pattern often shows wide heterogeneity within relatives of a VTE-affected family, although they carry the same thrombophilia defect. It is then mandatory to develop additional tools for assessing VTE risk in families with thrombophilia. This study aims to assess whether common environmental and genetic risk factors for VTE contribute to explain this heterogeneity.

Risk factors for venous thromboembolism in women under combined oral contraceptive. The PILl Genetic RIsk Monitoring (PILGRIM) Study.

Identifying women at risk of venous thromboembolism (VTE) is a major public health issue. The objective of this study was to identify environmental and genetic determinants of VTE risk in a large sample of women under combined oral contraceptives (COC). A total of 968 women who had had one event of VTE during COC use were compared to 874 women under COC but with no personal history of VTE.

ABO blood group and von Willebrand factor levels partially explained the incomplete penetrance of congenital thrombophilia.

Objective: We aimed to study the association among ABO blood group, von Willebrand factor, factor VIII plasma levels, and the risk of venous thrombosis (VT) in a cohort of 1774 relatives from 500 families with inherited thrombophilia.

Methods And Results: One hundred sixty-one of the 1774 relatives had a VT. Different risk groups were formed: no, low-(factor V Leiden or F2G20210A heterozygous carriers), and high-risk thrombophilia (antithrombin, protein C, protein S, factor V Leiden, or F2G20210A homozygous carriers and combined defects).