Venous thromboembolic disease in childhood is a multifactorial disease. Risk factors include acquired clinical risk factors such as a central venous catheter and underlying disease and inherited thrombophilia. Inherited thrombophilia is defined as a genetically determined tendency to develop venous thromboembolism. In contrast to adults, acquired clinical risk factors play a larger role than in...

We examined the relationship between placental histology and thrombophilia status in women who were admitted with severe pre-eclampsia/eclampsia, placental abruption, intrauterine growth restriction or unexplained stillbirth. All women had thrombophilia screen at least 10 weeks after delivery (antithrombin III, protein C, protein S, activated protein C resistance, anticardiolipin antibodies, lu...

The discovery of activated protein C (APC) resistance by Dahlbäck in 19931 was a milestone in thrombophilia research that led to major advances in our understanding of the biochemistry, genetics, and clinical manifestations of hypercoagulability. APC resistance was quickly demonstrated to be caused by a single point mutation (1691G3A) in the coding region of the factor V gene.2 This mutation, f...

BACKGROUND The recent advent of genome-wide molecular platforms has facilitated our understanding of the human genome and disease, particularly copy number aberrations. We performed genome-wide single nucleotide polymorphism-array in hereditary coagulopathy to delineate the extent of copy number mutations and to assess its diagnostic utility. DESIGN AND METHODS The study subjects were 17 pati...

Inherited thrombophilia is a blood coagulation disorder that increases the risk for venous thromboembolism (VTE). During the last decades, the practice of testing has evolved from testing selected populations, leading to high perceived risks, to broad testing for various conditions that included VTE, arterial thrombosis, and pregnancy complications. Because results of such tests usually do not ...

Whether or not maternal thrombophilia due to the most common gain-of-function mutations in factor V (factor V Leiden) and prothrombin gene (G20210A prothrombin), has a role in favouring or contrasting the embryo implantation after assisted reproductive procedures is a matter of debate. Only few studies are available on this issue. On one hand, it has been suggested that carriers of factor V Lei...

BACKGROUND The triple test serum markers for Down's syndrome screening may be altered because of various conditions other than chromosomal trisomies. OBJECTIVES To assess the profile of mid-trimester triple test serum markers in a cohort of women treated with low molecular weight heparin (LMWH) for thrombophilia since the first trimester. METHODS Women with inherited or acquired thrombophil...

A 3-year-old boy underwent surgical closure of a large ostium secundum atrial septal defect. This was complicated with extensive right atrial thrombus formation and pulmonary thromboembolism immediately following surgery. He was managed with emergency surgical thromboembolectomy and anticoagulation. However, new thrombus was formed again immediately. This prompted us to add thrombolysis to his ...