In patients with venous thromboembolism (VTE), the outcome during the course of anticoagulant therapy may differ according to the patient’s sex. We used the RIETE (Registro Informatizado Enfermedad TromboEmbólica) database to compare the rate of VTE recurrences, major bleeding, and mortality due to these events according to sex.As of August 2013, 47,499 patients were enrolled in RIETE, of whom 24,280 (51%) were women. Women were older, more likely presented with pulmonary embolism (PE), and were more likely to have recent immobilization but less likely to have cancer than men. During the course of anticoagulation (mean duration: 253 d), 659 patients developed recurrent deep vein thrombosis (DVT), 576 recurrent PE, 1368 bled, and 4506 died. Compared with men, women had a lower rate of DVT recurrences (hazard ratio [HR]: 0.78; 95% confidence interval [CI]: 0.67–0.91), a similar rate of PE recurrences (HR: 0.98; 95% CI: 0.83–1.15), a higher rate of major bleeding (HR: 1.21; 95% CI: 1.09–1.35), and higher mortality due to PE (HR: 1.24; 95% CI: 1.04–1.47). On multivariable analysis, any influence of sex on the risk for recurrent DVT (HR: 0.88; 95% CI: 0.75–1.03), major bleeding (HR: 1.10; 95% CI: 0.98–1.24), or fatal PE (HR: 1.01; 95% CI: 0.84–1.22) was no longer statistically significant.In conclusion, women had fewer DVT recurrences and more bleeds than men during the course of anticoagulation. These differences were not due to sex, but very likely to other patient characteristics more common in female patients and differences in treatment choice.

Background: This study investigates the association between cerebral vein thrombosis (CVT) and the mutations FV 1691A (factor V Leiden), PT 20210A and MTHFR 677TT and acquired factors including oral contraceptive (OC) use. Methods: 26 patients (21 females) and 217 healthy controls (134 females) were studied. Multiple regression analysis was performed. Results: The frequency of the three mutations in cases and controls were: PT 20210A, 23 versus 1%, odds ratio (OR) 21.40 (95% CI 4.29–118.75), p < 0.001; FV 1691A, 8 versus 1%, OR 5.94 (95% CI 0.66–46.9); MTHFR 677TT, 4 versus 7%, OR 0.54 (95% CI 0.03–4.08). OC use was more frequent in female patients over 14 years old than in controls (84 vs. 40%, OR 8.15, 95% CI 2.09–37.13, p < 0.001). The model that best explained the thrombotic risk included PT 20210A and OC use. Conclusions: PT 20210A and OC use are the main thrombophilic risk factors predisposing to CVT and should be routinely investigated in patients with this disease.

Our findings suggest that JAK2V617F occurs in a high proportion of patients with splanchnic vein thrombosis, and reinforces the diagnostic utility of JAK2V617F testing in this setting.

Summary Introduction:  Thrombotic complications are a main concern in patients with myeloproliferative neoplasms. Recently, a gain‐of‐function mutation of the gene encoding the JAK2 tyrosine kinase that results in a valine‐to‐phenylalanine substitution at position 617 (V617F) has been described. Since the description of the JAK2‐V617F mutation and its finding in patients with splanchnic vein thrombosis without an overt myeloproliferative neoplasm, many groups have studied the prevalence of this mutation in patients with unexplained venous and arterial thrombosis. Methods:  A literature search was made using the key words thrombosis, JAK2V617F mutation, myeloproliferative neoplasms, cerebral vein thrombosis and splanchnic vein thrombosis. Results:  JAK2V617F is frequent in patients with splanchnic vein thrombosis, but is rare in patients with venous thrombosis at other locations or with arterial thrombosis. Conclusion:  Routine testing for JAK2V617F is not currently recommended for patients with unexplained thromboses, except for those with splanchnic vein thrombosis. In patients with cerebral vein thrombosis, the value of testing for JAK2V617F mutation is yet to be established.

Quebec platelet disorder (QPD) is an autosomal dominant bleeding disorder associated with increased risks for bleeding and the expression and storage of urokinase plasminogen activator (u-PA) in platelets, despite normal u-PA in plasma (reviewed in [1]). In the recent article on QPD published in this journal [1], QPD was proposed to result from defective u-PA regulation by megakaryocytes. However, the levels of u-PA in other QPD cells and urine have not been reported. Individuals with QPD are at increased risk of experiencing bleeding following hemostatic challenges, and approximately 50% experience episodic, spontaneous hematuria, which is associated with higher levels of platelet u-PA [2]. As urine normally contains significant amounts of u-PA (40-80 mg/ml) [3], we investigated whether individuals with QPD have an increased urinary u-PA as a potential contributor to their urinary tract bleeding.

Although FVIII and vWF were abnormal in CS patients, only the initiation clot formation was different in the ROTEM® methodology and no deep vein thrombosis was found.

No abstract

Inherited factor VII (FVII) deficiency is the most common among the rare bleeding disorders. It is transmitted as an autosomal recessive inheritance, due to mutations in the FVII gene (F7). Molecular studies of FVII deficiency are rare in non-Caucasian populations. The aim of the study was to evaluate the molecular basis behind low levels of FVII activity (FVII:C) levels in a cohort of Brazilian patients. A total of 34 patients with low FVII levels were clinically evaluated and submitted to laboratory tests, among these, prothrombin time and FVII:C, with different thromboplastins. All exons and intron/exon boundaries of F7 were amplified and sequenced. A total of 14 genetic alterations were identified, of which six were described previously, c.1091G>A, c.1151C>T, c.-323_-313insCCTATATCCT, c.285G>A, c.525C>T, c.1238G>A and eight (54.0%) and eight were new, c.128G>A, c.252C>T, c.348G>A, c.417G>A, c.426G>A, c.745_747delGTG, c.843G>A and c.805+52C>T. In addition to the mutation c.1091G>A, known as FVII Padua, the mutation c.1151C>T also presented discrepant FVII:C levels when tested with human and rabbit brain thromboplastin. There was no association between phenotype and genotype. Most of the identified genetic alterations found were polymorphisms. Low levels of FVII:C in this population were mostly related to polymorphisms in F7 and associated with a mild clinical phenotype. Mutation c.1151C>T was associated with discrepant levels of FVII:C using different thromboplastins, such as reported with FVII Padua.