Impact of Thrombophilic Genetic Factors on Pulmonary Embolism: Early Onset and Recurrent Incidences

Ivanov, P; Komsa-Penkova, Regina; Kovacheva, K; Ivanov, Yavor; Stoyanova, A.; Ivanov, Ivan N.; Pavlov, Plamen; Glogovska, Pavlina; Nojarov, Venzislav

doi:10.1007/s00408-007-9061-7

Cited by 27 publications

(22 citation statements)

References 38 publications

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“…The higher prevalence of pulmonary embolism and VTE found in men as compared with women in our country are in concurrence with worldwide data [6][7][8], which could be attributed to the higher proportion of pulmonary embolism-associated proximal DVT in men as compared with women [1,6]. The higher prevalence of FVL mutation detected in our patients with pulmonary embolism has been reported by other groups [9,10].…”

Section: Discussionsupporting

confidence: 93%

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: 93%

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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“…The primers and PCR conditions for amplification of investigated DNA regions for FVL and FII 20210G>A were as previously described [25].…”

Section: Dna Analysismentioning

confidence: 99%

Association of inherited thrombophilia with embryonic and postembryonic recurrent pregnancy loss

Ivanov¹,

Komsa-Penkova²,

Konova

et al. 2009

Blood Coagulation &Amp; Fibrinolysis

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To investigate the impact of maternal-inherited thrombophilia: effects of factor V Leiden (FVL) and prothrombin gene mutation (FII 20210G>A) on the development of recurrent pregnancy loss in embryonic and postembryonic periods. A total of 153 patients were analysed for FVL and FII 20210G>A according to placenta gestation: 94 women with embryonic loss prior 10 weeks of gestation and 59 women with postembryonic (early fetal) loss occurring between 10 and 14 weeks of gestation. The control group consisted of 100 healthy women, with at least one uncomplicated full-term pregnancy. FVL prevalence was not significantly associated with pregnancy loss prior to 10 weeks of gestation (9.6%) compared with controls (7%) [odds ratio (OR) 1.41; 95% confidence interval (CI) 0.454-4.416, P > 0.05], but it was much more pronounced in women with postembryonic loss (10-14 weeks of gestation) - 18.6% (OR 3.05; 95% CI 1.010-9.387, P = 0.047). FII 20210G>A was significantly higher in both groups with embryonic (17%) and early fetal losses (16.9%) as compared to controls (3%) (OR 6.63; 95% CI 1.731-29.752, P = 0.003; OR 6.60; 95% CI 1.572-31.856, P = 0.006). FII 20210G>A is significantly associated with an increased risk of early recurrent pregnancy loss throughout the entire first trimester. FVL was significantly higher only in early fetal period after starting of the placentation process, but not associated with embryonic recurrent pregnancy loss. These results suggested that the first trimester should be viewed rather as a heterogeneous interval, with different relation to FVL in the embryonic and postembryonic fetal period. Genetic testing should be applied according to the diverse contribution of thrombophilic markers to embryonic and postembryonic period.

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“…Factor V Leiden (FVL), prothrombin gene mutation G20210A (FII G20210), genetic variant C677T of the methylentetrahydrofolate reductase (MTHFR), as well as the polymorphism A2 (PlA2) in platelet glycoprotein IIb/IIIa and antiphospholipid syndrome have recently been discussed as possible causes of recurrent thromboses [3,4]. The C677T variant of MTHFR has recently also been suggested as a risk factor for venous and arterial thrombosis resulting in a thermo-stable, less active enzyme form [5].…”

Section: Introductionmentioning

confidence: 99%

Double-trouble: An unusual case of two simultaneous arterial thromboses in thrombophilia

et al. 2011

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AbstractMultiple arterial and venous thromboses are usually related to thrombophilia or antiphospholipid syndrome. Recurrent pulmonary embolism strongly indicates the presence of genetic or acquired thrombophilic factors. Simultaneous double arterial in situ thromboses are unusual, even in thrombophilic conditions. Simultaneous occurrence of pulmonary embolism and cerebrovascular ischaemic insult are highly indicative of existence of patent foramen ovale. We present herein a patient with the double simultaneous arterial thromboses as the manifestation of thrombophilia (heterozygous for methylenetetrahydrofolate-reductase (MTHFR) C677T gene mutation). There was no patent foramen ovale suspected upon the patient’s admittance to hospital. To the best of our knowledge there have been no similar cases presented to date.

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Impact of Thrombophilic Genetic Factors on Pulmonary Embolism: Early Onset and Recurrent Incidences

Cited by 27 publications

References 38 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

Association of inherited thrombophilia with embryonic and postembryonic recurrent pregnancy loss

Double-trouble: An unusual case of two simultaneous arterial thromboses in thrombophilia

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