OBJECTIVES This review aimed to organize and consolidate the latest knowledge about mutations and genetic polymorphisms related to hereditary thrombophilia and their potential association with pediatric stroke and cerebral palsy (CP). SOURCES Scientific articles published from 1993 to 2013, written in Portuguese, English, French, and Spanish, were selected and reviewed. The publications were ...

BACKGROUND A number of studies showed that the JAK2 V617F mutation increases the thrombotic risk in patients with myeloproliferative disorders (MPN) while others did not reveal this correlation, and it is unknown whether inherited thrombophilia is an additive risk factor in mutated subjects. Our aim was to clarify the contribution of JAK2 V617F to a hypercoagulable state, as well as its interac...

The term thrombophilia describes the predisposition to venous thromboembolism and, under certain circumstances, also an increased risk of arterial thrombosis. In a broad sense, thrombophilia includes any inherited or acquired disorder associated with an increased tendency to thrombosis. It was soon realised that thrombotic events have a complex multifactorial cause, usually a combination of gen...

Vascular access thrombosis is the most common and costly complication in hemodialysis patients. The role of thrombophilia in access thrombosis is not established. A case-control study was conducted of 419 hemodialysis patients to determine whether thrombophilia was associated with arteriovenous fistula or graft thrombosis. Participants were enrolled from three in-center and five satellite dialy...

Factors controlling complement activation appear to exert a protective effect on pregnancy. This is particularly important in women with thrombophilia. The aim of this study was to determine the transcript and protein levels of complement decay-accelerating factor (DAF) and membrane cofactor protein (MCP) in the placentas of women with acquired and inherited thrombophilia. Also, we assessed imm...

In the last decades, the knowledge on the etiology of venous thromboembolism (VTE) has increased tremendously. In approximately half of patients presenting with VTE, one or more thrombophilic defects can be identified. This has led to widespread testing for thrombophilia, despite the fact that, at present, it is unclear whether this should have therapeutic consequences. Here we review the curre...

Diagnostic algorithms for venous thromboembolism exist, but most do not provide detailed guidance as to which patients, if any, may benefit from screening for thrombophilia. This article provides an overview of the optimized diagnosis of venous thromboembolism, with a focus on the appropriate use of thrombophilia screening.

Introduction Arterial or venous thrombosis rarely occurs in children, in almost 70% of these patients an acquired or congenital cause can be identified. Hereditary thrombophilia can be identified in 10-30% of children with other evident causes of thrombosis, and in 60% of children with apparent idiopathic thrombosis. Therefore it is suggested that thrombophilia screening should be done in both ...

Women with thrombophilia are at an increased risk of not only venous thromboembolism, but various other complications including intrauterine foetal growth retardation, pre-eclampsia and foetal loss. Both inherited and acquired thrombophilias contribute to thrombotic events and their adverse outcome in pregnancy. The major inherited thrombophilias include deficiencies of antithrombin, protein C,...