<i>JAK2</i>Mutations Across a Spectrum of Venous Thrombosis Cases: Table 1

Shetty, Shrimati; Kulkarni, Bipin; Pai, Navin; Mukundan, Preeti; Kasatkar, Priyanka; Ghosh, Kanjaksha

doi:10.1309/ajcp7vo4haizyatp

Cited by 61 publications

(37 citation statements)

References 28 publications

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“…Our group has implicated JAK2 mutation as a major genetic cause for PVT (3%) and Budd Chiari Syndrome patients (8.75%) [11]. The higher prevalence of HHC in males as compared to females in our series has been reported by other groups [12].…”

Section: Discussionsupporting

confidence: 71%

Cause of deep venous thrombosis and pulmonary embolism in young patients from India as compared with other ethnic groups

Pai

Ghosh

Shetty

2012

Blood Coagulation &Amp; Fibrinolysis

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Venous thromboembolism (VTE), which consists of deep vein thrombosis (DVT) and pulmonary embolism, is a potentially fatal disease. The existing Asian literature has shown a wide variation in the prevalence of VTE, with very limited data from India. In the present study, the risk factors for VTE in Indian patients were compared with Caucasians and Blacks. We used data prospectively collected from total of 1396 Indian patients (716 males, 680 females) enrolled over a decade and compared with White (n = 2002) and Black (n = 395) patients objectively diagnosed with VTE. When compared with females, males had significantly higher episodes of pulmonary embolism and VTE (P = 0.0001). Amongst the known thrombophilia markers, only homocysteine was found to be significantly higher in males as compared with females (P = 0.006). Males had a higher proportion of rheumatic heart disease (RHD) and ischaemic heart disease (IHD) as compared with females. The prevalence of DVT amongst Indians was significantly higher as compared with Whites and Blacks. However, the rate of pulmonary embolism and VTE was lower in Indians as compared with both the races. Amongst the baseline characteristics identified as risk factors for VTE, Indians had a higher prevalence of infection as compared to both Whites and Blacks, but lower HIV infection as compared to Blacks. As compared to Whites, Indians had lower prevalence of idiopathic VTE (but similar to blacks) and had higher prevalence of idiopathic pulmonary embolism (P < 0.0001). This can be explained by different inherited and environment risk factors between these three populations.

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Section: Discussionsupporting

confidence: 71%

Cause of deep venous thrombosis and pulmonary embolism in young patients from India as compared with other ethnic groups

Pai

Ghosh

Shetty

2012

Blood Coagulation &Amp; Fibrinolysis

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“…25 JAK2 mutation was reported to be 13% in both patients with BCS and patients with PVT recently by our group. 26 In conclusion, the present study shows that thrombophilia is significantly associated with thrombosis in pediatric patients. Besides inherited causes, secondary factors, mainly infection, also play a significant role in precipitating the DVT in the pediatric patients.…”

Section: Discussionsupporting

confidence: 57%

Acquired and Heritable Thrombophilia in Indian Patients With Pediatric Deep Venous Thrombosis (DVT)

Pai

Ghosh

Shetty

2013

Clin Appl Thromb Hemost

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Deep venous thrombosis (DVT) in children is more often associated with underlying pathological conditions than with hereditary thrombophilia. The present study is a retrospective analysis of thrombophilia in 285 pediatric patients with venous thrombosis at different sites. Four common thrombophilia markers, that is protein C, protein S, antithrombin III, and factor V Leiden (FVL) mutation, were analyzed. Thrombosis in hepatic and portal veins was more common in pediatric patients (73%) when compared to other sites (27%). Overall, hereditary thrombophilia accounted for 15.5% of the patients with venous thrombosis. The FVL mutation, which was the major causative factor in Budd-Chiari syndrome and portal vein thrombosis cases in the adult group, was not a major contributing factor in pediatric group, that is, 1.8% of the patients. In conclusion, the risk factors for venous thrombosis vary in different age groups.

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“…Only a few studies (Table 1) have investigated the relationship between JAK2 V617F mutation and CVT in the absence of distinct biological and/or clinical features of MPN [9,19,20,21,22,25,32,33,34,35,36]; the prevalence of the mutation has ranged from 0% [9,19,20,21,33,34] to as much as 14% [22,25,35]. However, except for 2 studies including more than 100 subjects [22,32], patient series have been relatively small.…”

Section: Discussionmentioning

confidence: 99%

Should We Screen for Janus Kinase 2 V617F Mutation in Cerebral Venous Thrombosis?

Lamy¹,

Palazzo

Agius³

et al. 2017

Cerebrovasc Dis

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Background: The presence of Janus Kinase 2 (JAK2) V617F mutation represents a major diagnostic criterion for detecting myeloproliferative neoplasms (MPN) and even in the absence of overt MPN, JAK2 V617F mutation is associated with splanchnic vein thrombosis. However, the actual prevalence and diagnostic value of the JAK2 V617F mutation in patients with cerebral venous thrombosis (CVT) are not known. The aims of this study were to assess the prevalence of JAK2 V617F mutation in a large group of consecutive CVT patients, to detect clinical, biological, and radiological features associated with the mutation, and to determine the long-term venous thrombosis recurrence rate in CVT patients with JAK2 mutation but without overt MPN in order to recommend the best preventive treatment. Methods: This was a prospective study conducted on consecutive patients with a first-ever radiologically confirmed CVT. JAK2 V617F mutation analysis was assessed in all the study subjects. JAK2 V617F-positive patients were followed up to detect new venous thrombotic events. Results: Of the 125 included subjects, 7 were found to have JAK2 V617F mutation (5.6%; 95% CI 2.3-11.2). Older age (p = 0.039) and higher platelet count (p = 0.004) were independently associated with JAK2 V617F positivity in patients without overt MPN. During a mean follow-up period of 59 (SD 46) months, 2 JAK2 V617F-positive patients presented with 4 new venous thromboembolic events. Conclusions: Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence.

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JAK2Mutations Across a Spectrum of Venous Thrombosis Cases: Table 1

Cited by 61 publications

References 28 publications

Cause of deep venous thrombosis and pulmonary embolism in young patients from India as compared with other ethnic groups

Cause of deep venous thrombosis and pulmonary embolism in young patients from India as compared with other ethnic groups

Acquired and Heritable Thrombophilia in Indian Patients With Pediatric Deep Venous Thrombosis (DVT)

Should We Screen for Janus Kinase 2 V617F Mutation in Cerebral Venous Thrombosis?

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