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1
Gogia, Navneet, and Geoffrey A. Machin. "Maternal Thrombophilias Are Associated with Specific Placental Lesions." Pediatric and Developmental Pathology 11, no. 6 (November 2008): 424–29. http://dx.doi.org/10.2350/07-09-0345.1.
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Maternal floor infarction (MFI), massive perivillous fibrin deposition (MPVFD), and fetal thrombotic vasculopathy (FTV) are specific placental lesions with associations to recurrent adverse fetal outcomes and with maternal thrombophilia. We studied the frequency of a range of acquired and genetic maternal thrombophilias in MFI (40 cases), MPVFD (87 cases), FTV (7 cases), and FTV+MPVFD (4 cases). Thrombophilias were identified in 16 (40%), 20 (23%), 5 (71%), and 2 (50%) of these lesions, respectively. Seventy-seven percent of the identified thrombophilias were genetic, and 23% were acquired. The most common genetic thrombophilia was protein S deficiency, which constituted 14 of the 36 genetic thrombophilias (39%). We advocate full maternal thrombophilia testing when the diagnosis of MFI, MPVFD, and FTV is made by placental pathology examination. Because of the possible contribution of paternal thrombophilic mutations to the fetal genotype, it would be desirable to test the whole family as well.
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Salehi Omran, Setareh, Adam Hartman, Neil A. Zakai, and Babak B. Navi. "Thrombophilia Testing After Ischemic Stroke." Stroke 52, no. 5 (May 2021): 1874–84. http://dx.doi.org/10.1161/strokeaha.120.032360.
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Thrombophilia testing is frequently performed after an ischemic stroke, particularly when cryptogenic. However, there is minimal evidence supporting a significant association between most conditions assessed through thrombophilia testing and ischemic stroke, and the rationale for thrombophilia testing in many clinical situations remains uncertain. In this topical review, we review and contextualize the existing data on the risks, predictors, and outcomes of thrombophilic conditions in patients with ischemic stroke. We report that inherited thrombophilias have an uncertain relationship with ischemic stroke. Conversely, antiphospholipid syndrome, an acquired immune-mediated thrombophilia, seems to be a strong risk factor for arterial thromboembolic events, including ischemic stroke, and especially among young patients. Our findings suggest that certain circumstances may warrant targeted thrombophilia testing, such as stroke in the young, cryptogenic stroke, and high estrogen states. Future prospective studies should investigate the utility and cost effectiveness of thrombophilia testing in various stroke settings, including among patients with patent foramen ovale; as well as the optimal secondary stroke prevention regimen in patients with confirmed thrombophilia, particularly if no other potential stroke mechanism is identified.
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Lindhoff-Last and Luxembourg. "Evidence-based indications for thrombophilia screening." Vasa 37, no. 1 (February 1, 2008): 19–30. http://dx.doi.org/10.1024/0301-1526.37.1.19.
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Thrombophilic defects have been shown to be associated with an increased risk of venous thrombosis, fetal loss, and gestational complications. The knowledge about the clinical relevance of thrombophilic defects is increasing, and evidence-based indications for thrombophilia screening are therefore discussed in this review. Selective thrombophilia screening based on previous personal and/or family history of venous thromboembolism is more cost-effective than universal screening in all patient groups evaluated. In the majority of patients with acute venous thrombosis, the results of thrombophilia screening do not influence the duration of oral anticoagulation. The only patient population who clearly profits from thrombophilia screening in this situation are patients with a newly diagnosed antiphospholipid syndrome, because prolonged anticoagulation can avoid the high incidence of recurrence in this patient population. Because of the increased risk of venous thrombosis during pregnancy and the puerperium, thrombophilia screening is indicated in selected patients with a previous history of venous thrombosis or a positive family history. Significant associations with early and late pregnancy loss are observed for carriers of the heterozygous factor V Leiden mutation, the heterozygous prothrombin-mutation G20210A and anticardiolipin antibodies, while protein S deficiency is significantly associated with late pregnancy loss. Antithrombotic drugs like UFH, LMWH or low-dose aspirin may have a potential therapeutic benefit in patients with recurrent pregnancy loss and thrombophilia, but placebo-controlled, multicenter trials are urgently needed to clarify this issue. Although a supra-additive effect for the risk of venous thrombosis is observed between oral contraceptives and some thrombophilias, the absolute incidence of venous thromboembolism is low in premenopausal women and mass screening strategies are therefore unlikely to be effective. While antiphospholipid antibodies are known to be associated with arterial thrombosis, screening for heritable thrombophilias is not useful in arterial thrombosis, although subgroup analysis indicates that they may play a role particularly in young patients and children.
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Glueck, C. J., Naila Goldenberg, Howard Bell, Karl Golnik, and Ping Wang. "Amaurosis Fugax: Associations with Heritable Thrombophilia." Clinical and Applied Thrombosis/Hemostasis 11, no. 3 (July 2005): 235–41. http://dx.doi.org/10.1177/107602960501100301.
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The aim of this study was to prospectively assess associations between amaurosis fugax, inherited thrombophilia, and acquired thrombophilia. Thrombophilia and hypofibrinolysis were studied in 11 cases (eight women, three men; all white) with amaurosis fugax, 57 ± 17 years old, selected by the absence of abnormal brain magnetic resonance imaging (MRI), magnetic resonance angiography (MRA), magnetic resonance venography (MRV), ipsilateral internal carotid artery plaque, atrial fibrillation, or cardiac thrombus. Cases were compared to 78 healthy adult white controls (53 ± 18 years old) for serologic measures, and by polymerase chain reaction to 248 healthy white controls (78 adults, 170 children) for gene mutations. All 11 cases had one or more familial thrombophilic coagulation disorder including one heterozygous for the G1691A factor V Leiden mutation, two with low free protein S, four with high factor VIII, three with resistance to activated protein C, three homozygous for the C677T methylenetetrahydrofolate reductase (MTHFR) mutation, two compound C677T-A1298C MTHFR heterozygotes, and three with hypofibrinolytic 4G4G homozygosity for the PAI-1 gene. The case with factor VIII of 160% had two other thrombophilias (compound MTHFR C677T-A1298C heterozygosity, resistance to activated protein C), and hypofibrinolytic high Lp(a). Thrombophilic C677T MTHFR homozygosity or compound C677T-A1298C heterozygosity was present in five of 10 (50%) cases vs. 30 of 248 (12%) controls, Fisher’s p (pf) = .005. Thrombophilic factor VIII was high in four of 10 (40%) cases vs. 0 of 38 controls, pf = .001. Thrombophilic hyperestrogenemia in five of the eight women (four exogenous estrogen, one pregnant) may have interacted with inherited thrombophilia-hypofibrinolysis, promoting thrombus formation. In cases selected by the absence of abnormal brain magnetic resonance imaging, significant ipsilateral internal carotid artery plaque, atrial fibrillation, or cardiac thrombus, we speculate that amaurosis fugax can be caused by reversible (by anticoagulation) retinal artery thrombi associated with heritable thrombophilia and/or hypofibrinolysis, often augmented by estrogen-driven acquired thrombophilia.
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Fontaine, Robert, Ping Wang, and Charles Glueck. "Interaction of Heritable and Estrogen-induced Thrombophilia: Possible Etiologies for Ischemic Optic Neuropathy and Ischemic Stroke." Thrombosis and Haemostasis 85, no. 02 (2001): 256–59. http://dx.doi.org/10.1055/s-0037-1615698.
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SummaryOur specific aim was to assess how thrombophilic exogenous estrogens interacted with heritable thrombophilias leading to nonarteritic ischemic optic neuropathy (NAION) and ischemic stroke. Coagulation measures were performed in a 74 year old patient and her immediate family. The proband had a 47 year history of 9 previous thrombotic episodes, and developed unilateral NAION 4 years after starting estrogen replacement therapy (ERT). The proband was heterozygous for two thrombophilic gene mutations (G20210A prothrombin gene, platelet glycoprotein IIIa PlA1/A2 polymorphism), and homozygous for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Of 238 normal controls, none had these 3 gene mutations together. The proband’s mother and brother had deep venous thrombosis (DVT). The proband’s brother, sister, nephew, daughter, and two granddaughters were homozygous for the C677T MTHFR mutation. The proband’s brother was heterozygous for the G20210A prothrombin gene mutation. The proband’s niece was heterozygous for the G20210A prothrombin gene mutation, homozygous for the C677T MTHFR mutation, homozygous for the hypofibrinolytic 4G polymorphism of the plasminogen activator inhibitor-1 (PAI-1) gene, and heterozygous for the platelet glycoprotein IIIa PlA1/A2 polymorphism. Of 238 normal controls, none had the niece’s combination of 4 gene mutations. When ERT-mediated thrombophilia was superimposed on the proband’s heritable thrombophilias, unilateral ischemic optic neuropathy developed, her tenth thrombotic event over a 5 decade period. When estrogenprogestin oral contraceptives were given to the proband’s niece, she had an ischemic stroke at age 22. Exogenous estrogen-mediated thrombophilia superimposed on heritable thrombophilia and hypofibrinolysis is associated with arterial and venous thrombi, and appears to be a preventable, and potentially reversible etiology for ischemic optic neuropathy and ischemic stroke.
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Moran, Jason, and Kenneth A. Bauer. "Managing thromboembolic risk in patients with hereditary and acquired thrombophilias." Blood 135, no. 5 (January 30, 2020): 344–50. http://dx.doi.org/10.1182/blood.2019000917.
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Abstract While we are now able to diagnose inherited thrombophilias in a substantial number of patients with venous thromboembolism (VTE), the initial hope that their presence would inform recurrence risk and thus decisions on anticoagulation duration has largely been disappointing. Indeed, the presence or absence of transient provoking risk factors has proven to be the most important determinant of VTE recurrence risk. Thus, particular attention to transient acquired risk factors for VTE remains paramount, as they have generally been shown to carry more prognostic weight than inherited thrombophilias. The presence of other acquired risk factors may require additional management considerations, whether pertaining to anticoagulant choice, as in antiphospholipid antibody syndrome, or to addressing a new predisposing medical condition, as in malignancy. Antithrombin deficiency or the presence of ≥1 thrombophilic defect may be exceptions that can have a role in prognostication; however, as illustrated in this review through several case vignettes, interpretation and clinical application of the results of inherited thrombophilia testing is nuanced. We have chosen to focus on cases in which patients have been identified as having thrombophilic defects rather than the indications for undertaking testing in the first place or the extent of investigation. Management decisions in such cases ultimately hinge on individualized consideration of the benefits and risks of anticoagulation along with patient preference rather than on an algorithmic pathway based on thrombophilia status.
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LaHue, Sara C., Helen Kim, Ludmila Pawlikowska, Jeffrey Nelson, Daniel L. Cooke, Steven W. Hetts, and Vineeta Singh. "Frequency and characteristics associated with inherited thrombophilia in patients with intracranial dural arteriovenous fistula." Journal of Neurosurgery 130, no. 4 (April 2019): 1346–50. http://dx.doi.org/10.3171/2017.10.jns171987.
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OBJECTIVEThe pathogenesis of dural arteriovenous fistulas (DAVFs) remains poorly defined. Prior studies on thrombophilia as a risk factor for DAVF development are limited by small sample sizes and poor generalizability.METHODSIn this longitudinal observational study, all patients with intracranial DAVFs evaluated at the University of California, San Francisco from December 1994 through April 2014 were identified. After obtaining patient consent, 3 thrombophilic mutations, factor V Leiden (rs6025), MTHFR (rs1801133), and prothrombin G20210A, were genotyped. The authors evaluated the association of thrombophilia status (presence of any thrombophilic mutation) and clinical and angiographic characteristics using either a 2-sample t-test or Fisher’s exact test.RESULTSA total of 116 patients with diagnosed intracranial DAVFs were included in the study. Twenty-five (22%) patients met criteria for thrombophilia. Focal neurological deficits tended to occur more frequently in the thrombophilia group (78% vs 57%, p = 0.09). Angiographic characteristics of DAVFs, including high-risk venous flow pattern, multiplicity of DAVF, and the presence of venous sinus thrombosis, did not differ significantly between the 2 groups but tended to be more common in the thrombophilic than in the nonthrombophilic group.CONCLUSIONSThis study is one of the largest of thrombophilia and DAVF to date. The frequency of mutations associated with thrombophilia in this study was higher than that in the general population.
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Waldman, Dalia, Aharon Lubetsky, Nurit Kornbrut, Abdalla Khalil, Ariel Koren, Baruch Wolach, Aviva Fattal, et al. "Paediatric cerebral sinus vein thrombosis." Thrombosis and Haemostasis 92, no. 10 (2004): 713–18. http://dx.doi.org/10.1160/th04-03-0182.
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SummaryThe etiology and pathophysiology of cerebral sinus venous thrombosis (CSVT) in the paediatric population is still poorly understood, and the role of thrombophilic risk factors remains to be elucidated. In our multi-center case-controlled study we studied 46 patients with CSVT diagnosed from April 1996 to December 2003, consecutively referred for thrombophilia work-up. The results of thrombophilia screen were compared to 112 healthy paediatric controls. Anticoagulant therapy was applied according to treating physicians’ decisions, and all cases were prospectively followed for a median of 4.1 years. Of 46 children, 8 had CSVT diagnosed in the neonatal period and therefore were analyzed separately. The prevalence of single thrombophilia markers and combinations of thrombophilic risk factors were similar among cases and controls. Among children with CSVT co-morbid systemic illness was present in most patients at diagnosis. Seven out of 8 children with idiopathic CSVT had thrombophilic risk factors as compared to 31/38 patients with co-morbid conditions. Anticoagulation was initiated in most patients, 11/46 patients continued therapy for a total of one year or more post event. Neither clinical presentation nor initial treatment decisions were affected by presence of thrombophilic risk factors in our study group. Thrombophilia prevalence was not increased in children with CSVT as compared to controls, however thrombophilia was more frequent among children with idiopathic CSVT. Thus, those selected patients would benefit most from thrombophilia work-up, required for long-term therapy considerations.
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Stefanski, Ana-Luisa, Christoph Specker, Rebecca Fischer-Betz, Wolfgang Henrich, Ekkehard Schleussner, and Thomas Dörner. "Maternal Thrombophilia and Recurrent Miscarriage – Is There Evidence That Heparin is Indicated as Prophylaxis against Recurrence?" Geburtshilfe und Frauenheilkunde 78, no. 03 (March 2018): 274–82. http://dx.doi.org/10.1055/s-0044-100919.
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Abstract Background Recurrent miscarriage, also referred to as recurrent spontaneous abortion (RSA), affects 1 – 5% of couples and has a multifactorial genesis. Acquired and congenital thrombophilia have been discussed as hemostatic risk factors in the pathogenesis of RSA. Method This review article was based on a selective search of the literature in PubMed. There was a special focus on the current body of evidence studying the association between RSA and antiphospholipid syndrome and hereditary thrombophilia disorders. Results Antiphospholipid syndrome (APS) is an acquired autoimmune thrombophilia and recurrent miscarriage is one of its clinical classification criteria. The presence of lupus anticoagulant has been shown to be the most important serologic risk factor for developing complications of pregnancy. A combination of low-dose acetylsalicylic acid and heparin has shown significant benefits with regard to pregnancy outcomes and APS-related miscarriage. Some congenital thrombophilic disorders also have an increased associated risk of developing RSA, although the risk is lower than for APS. The current analysis does not sufficiently support the analogous administration of heparin as prophylaxis against miscarriage in women with congenital thrombophilia in the same way as it is used in antiphospholipid syndrome. The data on rare, combined or homozygous thrombophilias and their impact on RSA are still insufficient. Conclusion In contrast to antiphospholipid syndrome, the current data from studies on recurrent spontaneous abortion do not support the prophylactic administration of heparin to treat women with maternal hereditary thrombophilia in subsequent pregnancies. Nevertheless, the maternal risk of thromboembolic events must determine the indication for thrombosis prophylaxis in pregnancy.
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Paidas, Michael, Edmund Funai, Edward Kuczynski, Charles Lockwood, and Henry Roqué. "Maternal thrombophilias are not associated with early pregnancy loss." Thrombosis and Haemostasis 91, no. 02 (2004): 290–95. http://dx.doi.org/10.1160/th03-09-0596.
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SummaryWe investigated the association between inherited and acquired maternal thrombophilias and adverse pregnancy events. A cohort of 491 patients with a history of adverse pregnancy outcomes was evaluated for activated protein C resistance, factor V Leiden and prothrombin G20210A mutations, hyperhomocysteinemia, deficiencies of antithrombin, protein C and S and both anticardiolipin antibodies and lupus anticoagulants. The study had an 80% power to detect a 15% difference in the prevalence of thrombophilia for 1st trimester loss. In our high-risk cohort the presence of 1 maternal thrombophilia or more than one thrombophilia were found to be protective of recurrent losses at < 10 weeks (1 thrombophilia: OR: 0.55, 95% CI: 0.33–0.92; >1 thrombophilia: OR: 0.48, 95%CI:0.29–0.78). In contrast, the presence of maternal thrombophilia(s) was modestly associated with an increased risk of losses ≥ 10 weeks (1 thrombophilia: OR:1.76, 95%CI: 1.05–2.94, >1 thrombophilia: OR:1.66, 95%CI:1.03–2.68). Women who experienced only euploid losses were not more likely to have an identified thrombophilia than women who experienced only aneuploid losses (OR 1.03; 0.38–2.75). The presence of maternal thrombophilia was associated with an increased risk of fetal loss after 14 weeks, fetal growth restriction, abruption and preeclampsia. There was a significant “dose-dependent” increase in the risk of abruption (OR:3.60, 95%CI: 1.43–9.09) and preeclampsia (OR:3.21, 95%CI:1.20–8.58). In conclusion, these data indicate maternal thrombophilias are not associated with pregnancy wastage prior to 10 weeks of gestation.
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Park, Junghyun, and Marc Rodger. "Retrospective Cohort of Unprovoked Venous Thromboembolism Patients: What Proportion Have Potent Thrombophilias Necessitating Indefinite Anticoagulants?" Blood 126, no. 23 (December 3, 2015): 2318. http://dx.doi.org/10.1182/blood.v126.23.2318.2318.
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Introduction Thrombophilia testing in unprovoked venous thromboembolism patients (VTE) is controversial. Common thrombophilias such as Factor V Leiden or prothrombin gene variant appear to not importantly increase the risk of VTE recurrence, and thus are not considered in anticoagulation management decisions. However, patients with potent thrombophilias such as antiphospholipid antibodies (APLA), antithrombin deficiency, protein C and S deficiency, and homozygous genetic thrombophilias or combined defects are at higher risk of recurrence and it is recommended that they receive long-term anticoagulation. If the proportion of patients with "potent" thrombophilia is high then thrombophilia testing should be conducted. We sought to determine the proportion of unprovoked VTE patients with "potent" thrombophilia. Methods All patients with managed in our oral anticoagulation management system in the period from 1998 to 2015 were potentially eligible for the study. Inclusion criteria were: 1) symptomatic, objectively confirmed VTE unprovoked proximal deep vein thrombosis or pulmonary embolism. Exclusion criteria were: 1) cancer or myeloproliferative disease at the time of VTE diagnosis; 2) no cast, surgery, trauma or immobilization (>3 days in bed 90% of waking hours) in the 90 days prior to diagnosis. We selected unprovoked VTE patients diagnosed between 2002 and 2010, as thrombophilia testing was relatively universal and available in our electronic system in that time frame (N=1344). We then selected a convenience sample of N=1165. The primary outcome measure was the proportion of patients with "potent" thrombophilia (potent= homozygous Factor V Leiden, homozygous Prothrombin gene variant, APLA, protein C, protein S or anti-thrombin deficiency or combined deficiencies). Results In 1165 patients with unprovoked VTE, complete screening was done in 470 patients (40.34%) and 976 (83.78%) had at least one thrombophilia test. Complete thrombophilia testing was defined as a screen including testing for factor V Leiden, prothrombin gene defect, APLA, anti-thrombin deficiency, protein C, and protein S. Potent thrombophilias were demonstrated in 103/1165 patients (8.84%; 95% CI, 7.34 to 10.61) (Table 2) in the total study population, and 103/976 (10.55%; 95% CI, 9.62-14.47) in patients with at least one thrombophilia test. Conclusion The proportion of unprovoked VTE patients with "potent" thrombophilia is high. Given a high proportion of "potent' thrombophilia patients who likely benefit from indefinite anticoagulation, complete thrombophilia testing appears warranted in patients with unprovoked VTE in whom anticoagulants maybe discontinued. Thrombophilia testing is warranted for a selected group of patients to detect high-risk thrombophilias that could impact anticoagulation management. Table 1. Thrombophilia screening Complete screening 470 (40.3%) No screening 189 (16.2%) At least one thrombophilia test 976 (83.8%) Table 2. Thrombophilia All patients (n=1165) Tested for individual thrombophilia % 95% CI % 95% CI FVL Heterozygous 162/1165 (13.9%) 12.0-16.0% 162/883 (18.4%) 15.9-21.0% FVL Homozygous 4/1165 (0.3%) 0.1-0.9% 4/883 (0.5%) 0.2-1.2% Prothrombin Heterozygous 63/1165 (5.4%) 4.3-6.9% 63/831 (7.6%) 6.0-9.6% Prothrombin Homozygous 1/1165 (0.0%) 0.0-0.5% 1/831 (0.1%) 0.0-0.7% Antithrombin deficiency 10/1165 (0.9%) 0.5-1.6% 10/815 (1.2%) 0.7-2.2% Protein C deficiency 18/1165 (1.6%) 1.0-2.4% 18/639 (2.8%) 1.8-4.4% Protein S deficiency 13/1165 (1.1%) 0.7-1.9% 13/635 (2.1%) 1.2-3.5% Lupus anticoagulant 24/1165 (2.1%) 1.4-3.1% 24/849 (2.8%) 1.9-4.2% Anticardiolipin IgM 16/1165 (1.4%) 0.9-2.2% 16/886 (1.8%) 1.1-2.9% Anticardiolipin IgG 20/1165 (1.7%) 1.1-2.6% 20/885 (2.2%) 1.5-3.5% β-2 microglobulin IgM 10/1165 (0.9%) 0.5-1.6% 10/333 (3.0%) 1.6-5.4% β-2 microglobulin IgG 8/1165 (0.7%) 0.4-1.4% 8/333 (2.4%) 1.2-4.7% Homocysteine 50/1165 (5.7%) 4.3-7.4% 50/668 (7.5%) 5.7-9.7% Factor VIII elevated 11/1165 (0.9%) 0.5-1.7% 11/646 (1.7%) 1.0-3.0% At least one or more of the above 331/1165 (28.4%) 25.9-31.1% 331/976 (33.9%) 31.0-36.9% Potent thrombophilia 103/1165 (8.8%) 7.34-10.6% 103/976 (10.6%) 9.6-14.5% Figure 1. Figure 1. Disclosures No relevant conflicts of interest to declare.
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Gaddh, Manila, and Rachel P. Rosovsky. "Venous Thromboembolism: Genetics and Thrombophilias." Seminars in Respiratory and Critical Care Medicine 42, no. 02 (March 10, 2021): 271–83. http://dx.doi.org/10.1055/s-0041-1723937.
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AbstractVenous thromboembolism (VTE) is a major cause of morbidity and mortality throughout the world. Up to one half of patients who present with VTE will have an underlying thrombophilic defect. This knowledge has led to a widespread practice of testing for such defects in patients who develop VTE. However, identifying a hereditary thrombophilia by itself does not necessarily change outcomes or dictate therapy. Furthermore, family history of VTE by itself can increase an asymptomatic person's VTE risk several-fold, independent of detecting a known inherited thrombophilia. In this article, we will describe the current validated hereditary thrombophilias including their history, prevalence, and association with VTE. With a focus on evaluating both risks and benefits of testing, we will also explore the controversies of why, who, and when to test as well as discuss contemporary societal guidelines. Lastly, we will share how these tests have been integrated into clinical practice and how to best utilize them in the future.
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Heidenreich, S., C. Dercken, C. August, H. G. Koch, and U. Nowak-Göttl. "High rate of acute rejections in renal allograft recipients with thrombophilic risk factors." Journal of the American Society of Nephrology 9, no. 7 (July 1998): 1309–13. http://dx.doi.org/10.1681/asn.v971309.
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Inherited and acquired thrombophilic disorders predispose patients for thromboembolic and probably other occlusive vascular events that occur when additional risk factors play in concert. Because acute rejections in renal transplant recipients may reflect vascular events, and an impairment of the fibrinolytic system in immunosuppressed patients has been previously described, the implications of genetic or acquired risk factors of thrombophilia for the occurrence of early acute rejections after kidney transplantation were evaluated. The following risk factors of thrombophilia were determined in 97 patients after cadaveric kidney transplantation: factor V Leiden mutation, protein S, protein C, and antithrombin deficiency. In a retrospective analysis, the prevalence of acute rejections, the histologic classification when rejection episodes had been confirmed by biopsy, and other vascular complications were evaluated. In 21 of the 97 patients, an inherited or acquired risk factor of thrombophilia was detected. Prevalence of acute rejections was 71% in the first 6 mo after transplantation in patients with a thrombophilic disorder and significantly higher compared with patients without thrombophilia (41%; P = 0.017). The distribution of classic risk factors associated with acute rejections, such as number of human leukocyte antigen mismatches or percentage of panel-reactive antibodies, was similar in patients with and without thrombophilia. In the eight patients with thrombophilia and histologically proven acute rejection, four patients had an acute vascular rejection, and in two patients a vascular involvement was suspected. Furthermore, prevalence of cerebral or coronary vascular disease, or venous thromboembolic complications, was significantly higher in patients with a thrombophilic clotting defect (67%) compared with patients with normal hemostasis parameters (28%; P < 0.002). It is concluded that renal allograft recipients with thrombophilia are at risk of developing an acute rejection or other vascular event. Although the determination of thrombotic risk factors was performed at least 3 mo after an acute rejection episode, it can be presumed that acute rejection episodes are associated with subsequent coagulatory abnormalities with further consequences for transplant survival. Thus, pretransplant evaluation of genetic and acquired risk factors of thrombophilia is recommended.
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Bruce, CT, SG Dixon, CJ Glueck, P. Wang, and RK Hutchins. "ID: 41: THROMBOTIC RAMIFICATIONS OF OPHTHALMOLOGIC DIAGNOSIS OF FAMILIAL AND ACQUIRED THROMBOPHILIA AS PATHOETIOLOGY FOR OTHERWISE UNEXPLAINED UVEITIS." Journal of Investigative Medicine 64, no. 4 (March 22, 2016): 945.2–946. http://dx.doi.org/10.1136/jim-2016-000120.67.
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PurposeThe diagnosis of uveitis prompts investigation into a long list of infectious, systemic autoimmune, and primary ocular conditions. Familial and acquired thrombophilia are rarely considered in the assessment of the pathoetiology of uveitis. We assessed three patients with uveitis who were referred to a thrombosis center by their retinologists-ophthalmologists after the search for an etiology among the common causes of uveitis did not yield a diagnosis, who were subsequently found to have familial thrombophilia and extra-ocular thrombotic events.MethodsWe prospectively measured familial and acquired thrombophilias in 3 patients, along with a thorough review of other known etiologies for uveitis.ResultsOf the three patients, one experienced 3 recurrent unexplained first trimester miscarriages and was found to have familial thrombophilia (high factor VIII, 158%, UNL 150%, and factor XI, 168%, UNL 150%) and familial hypofibrinolysis with 4G/4G homozygosity of the plasminogen activator inhibitor type 1 (PAI-1) gene. Enoxaparin, 40 mg twice/day was started at inception of her 4th pregnancy, which is now at 20 weeks gestation. The second patient developed deep venous thrombosis in both legs with pulmonary emboli, and 2 months later, was diagnosed with uveitis. She was found to have familial protein C deficiency (30%, laboratory lower normal limit 60%) and antiphospholipid syndrome. The third patient, whose son had an ischemic stroke at 1 month of age, was found to have thrombophilic compound heterozygous mutations in the methylenetetrahydrofolate reductase (MTHFR) gene as well as hypofibrinolytic 4G4G homozygosity in the PAI-1 gene.ConclusionWhen the usual pathoetiologies of uveitis are not found, ophthalmologists should screen for thrombophilia, often being the first to illuminate treatable etiologies for other thrombotic events. In our 3 patients, when the pathoetiology of uveitis could not be discerned, screening for familial and acquired thrombophilia had important therapeutic ramifications in the probands and their first degree relatives. .
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Klamroth, Robert, Marija Orlovic, Ilona Fritsche, Simone Seibt, Frank Seibt, Karl Wegscheider, and Helmut Landgraf. "The influence of thrombophilic risk factors on vascular access survival in chronic dialysis patients in a retrospective evaluation." Vasa 42, no. 1 (January 1, 2013): 32–39. http://dx.doi.org/10.1024/0301-1526/a000245.
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Background: Vascular access by dialysis graft or fistula is of major importance for hemodialysis treatment. Vascular access occlusion is one main reason for hospitalization of patients on hemodialysis. Thrombophilic risk factors are discussed as one cause for occlusion. The aim of this study was to determine if the presence of thrombophilic factors is associated with a reduced survival rate of vascular dialysis access. Patients and methods: The following thrombophilic parameters were measured in every hemodialysis patient from five outpatient dialysis centers in Berlin: antithrombin, protein C, protein S, prothrombin mutation (G20210A), factor V mutation (G1691A), lupus anticoagulant, anticardiolipin antibodies, factor VIII, plasminogen activator inhibitor, homocysteine and lipoprotein(a). Vascular access characteristics such as vascular access material (PTFE graft or native fistula) and location were also recorded. Each patients medical history was documented. Results: 199 patients with a total of 499 vascular accesses in the past (311 native fistulas (62.3 %) and 188 PTFE grafts (33.7 %)) were included in this study. The type of vascular access played an important role, with mean survival times of 34.2 months for native fistulas versus 9.5 months for grafts. There was at least one thrombophilic risk factor present in 69.8 % of the patients. In the univariate analysis thrombophilia had a significant influence on vascular access survival. The effect persisted throughout the multivariate analysis. Multivariate Cox analysis showed that the presence of thrombophilic factors was associated with a 43 % (mild) to 105 % (severe thrombophilia) increased risk of occlusion of the vascular access, corresponding to a 45 % to 68 % reduction of native access survival time. The influence of thrombophilia was evident in fistulas as well as in PTFE grafts. Conclusions: Thrombophilia plays a role in vascular accesses survival in patients on hemodialysis. In hemodialysis patients with recurrent occlusions of vascular access thrombophilia testing should be performed.
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Franchini, Massimo, Ida Martinelli, and Pier Mannuccio Mannucci. "Uncertain thrombophilia markers." Thrombosis and Haemostasis 115, no. 01 (January 2016): 25–30. http://dx.doi.org/10.1160/th15-06-0478.
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SummaryThe development of venous thromboembolism (VTE), which includes deep-vein thrombosis and pulmonary embolism, may be associated with inherited or acquired risk factors that can be measured in plasma or DNA testing. The main inherited thrombophilias include the plasma deficiencies of the natural anticoagulants antithrombin, protein C and S; the gain-of-function mutations factor V Leiden and prothrombin G20210A; some dysfibrinogenaemias and high plasma levels of coagulation factor VIII. Besides these established biomarkers, which usually represent the first-level laboratory tests for thrombophilia screening, a number of additional abnormalities have been less consistently associated with an increased VTE risk. These uncertain causes of thrombophilias will be discussed in this narrative review, focusing on their clinical impact and the underlying pathogenetic mechanisms. Currently, there is insufficient ground to recommend their inclusion within the framework of conventional thrombophilia testing.
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Pristov, Jelena Bogdanovic, Ivan Spasojevic, Željko Mikovic, Vesna Mandic, Nikola Cerovic, and Mihajlo Spasic. "Antioxidative Defense Enzymes in Placenta Protect Placenta and Fetus in Inherited Thrombophilia from Hydrogen Peroxide." Oxidative Medicine and Cellular Longevity 2, no. 1 (2009): 14–18. http://dx.doi.org/10.4161/oxim.2.1.7705.
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Our aim was to investigate the activities of antioxidative defense enzymes in the placenta, fetal blood and amnion fluid in inherited thrombophilia. Thrombophilia was associated with nearly threefold increase of activity (p < 0.001) of the placental catalase (81.1 ± 20.6 U/mg of proteins in controls and 270.0 ± 69.9 U/mg in thrombophilic subjects), glutathione (GSH) peroxidase (C: 20.2 ± 10.1 U/mg; T: 60.0 ± 15.5 U/mg), and GSH reductase (C: 28.9 ± 5.6 U/mg; T: 72.7 ± 23.0 U/mg). The placental activities of superoxide dismutating enzymes—MnSOD and CuZnSOD, did not differ in controls and thrombophilia. Likewise, the activities of catalase and SOD in the fetal blood, and the level of ascorbyl radical which represents a marker of oxidative status of amniotic fluid, were similar in controls and thrombophilic subjects. From this we concluded that in thrombophilia, placental tissue is exposed to H2O2-mediated oxidative stress, which could be initiated by pro-thrombic conditions in maternal blood. Increased activity of placental H2O2-removing enzymes protects fetus and mother during pregnancy, but may increase the risk of postpartum thrombosis.
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Sahay, Ravindranath, Priya Bhate, and Nikhil A. Borikar. "Inherited thrombophilia in young Indian adults presenting with thrombotic vascular events." International Journal of Research in Medical Sciences 5, no. 4 (March 28, 2017): 1193. http://dx.doi.org/10.18203/2320-6012.ijrms20170969.
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Background: There is limited Indian data available regarding inherited thrombophilias. This study was to determine the prevalence of inherited thrombophilias in young Indian patients presenting with thrombotic events.Methods: This study was done at a tertiary hospital in Western India over a period of 20 months. Epidemiological, clinical and laboratory data was recorded of all consecutive patients aged 16 to 45 admitted with arterial and venous thrombotic vascular events. Blood samples for the thrombophilia profile were sent. Data was tabulated and analyzed using microsoft excel and graph pad software.Results: 49 patients aged 15 to 45 years, admitted with thrombotic vascular events a period of 20 months were included. 26 (53.1%) were male. The mean age was 22.2±7 years. 20 (40.8%) patients; 10 (38.5%) males and 10 (43.5%) females had at least one thrombophilia. The commonest thrombophilia in both arterial and venous thrombotic events was hyperhomocysteinemia.Conclusions: Young patients with thrombotic vascular events should be tested for thrombophilias since they are an important risk factor in this subset of patients.
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Cardona, Henry, Serguei A. Castañeda, Wálter Cardona Maya, Leonor Alvarez, Joaquín Gómez, Jorge Gómez, José Torres, Luis Tobón, Gabriel Bedoya, and Ángela P. Cadavid. "Lack of Association between Recurrent Pregnancy Loss and Inherited Thrombophilia in a Group of Colombian Patients." Thrombosis 2012 (April 11, 2012): 1–6. http://dx.doi.org/10.1155/2012/367823.
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Studies have shown an association between recurrent pregnancy loss and inherited thrombophilia in Caucasian populations, but there is insufficient knowledge concerning triethnic populations such as the Colombian. The aim of this study was to evaluate whether inherited thrombophilia is associated with recurrent pregnancy loss. Methods. We conducted a case-control study of 93 patients with recurrent pregnancy loss (cases) and 206 healthy multiparous women (controls) in a Colombian subpopulation. Three single nucleotide polymorphisms (SNPs) markers of the inherited thrombophilias factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T were genotyped by PCR-RFLP. Activated protein C resistance and plasma levels of antithrombin, protein C, and protein S were also measured. Results. The frequency of thrombophilia-associated SNPs, activated protein C resistance, and anticoagulant protein deficiencies, was low overall, except for the methylenetetrahydrofolate reductase C677T SNP. The differences between patients and controls had no statistical significance. Conclusion. Our study confirms the low prevalence of inherited thrombophilias in non-Caucasian populations and it is unlikely that the tested thrombophilias play a role in the pathogenesis of recurrent pregnancy loss in this Colombian population.
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Makris, Mike, and Deepa Arachchillage. "Inherited Thrombophilia and Pregnancy Complications: Should We Test?" Seminars in Thrombosis and Hemostasis 45, no. 01 (June 4, 2018): 050–60. http://dx.doi.org/10.1055/s-0038-1657782.
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AbstractRecurrent miscarriages and pregnancy-related complications cause significant stress to couples looking for successful pregnancy outcome as well as to health care professionals. There is conflicting evidence with respect to the presence and the strength of associations between inherited thrombophilia and these complications. A complete thrombophilia screen is expensive, and no proven effective treatment for women with recurrent miscarriage and inherited thrombophilia is currently available. Based on the concept of microvascular thrombosis of the placenta, women with recurrent miscarriage and placenta-related complications frequently get treated with antithrombotic therapy. In this narrative review, the authors explore the evolving understanding and evidence of inherited thrombophilia in recurrent miscarriages and other pregnancy complications, and whether antithrombotic treatment would modify pregnancy outcome in women with inherited thrombophilia. Finally, they provide some personal recommendations based on available evidence for clinical practice. In summary, inherited thrombophilia testing is not required outside a clinical trial for women with recurrent pregnancy losses or late pregnancy complications. The presence of thrombophilia markers does not generally indicate additional therapy during pregnancy, even if a heritable thrombophilic defect is found in women with recurrent miscarriages or late pregnancy complications.
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Gaddh, Manila, En Cheng, Maha A. T. Elsebaie, and Imre Bodó. "Clinical Utilization and Cost of Thrombophilia Testing in Patients with Venous Thromboembolism." TH Open 04, no. 03 (July 2020): e153-e162. http://dx.doi.org/10.1055/s-0040-1714334.
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Abstract Introduction Testing for inherited and acquired thrombophilias adds to the cost of care of patients with venous thromboembolism (VTE), though results may not influence patient management. Methods This is a single-center, retrospective study conducted at Emory University Hospitals from January to December 2015 to (1) determine the pattern of thrombophilia testing in patients with VTE, (2) study the impact of results of thrombophilia testing on clinical decision-making, and (3) determine the direct costs of thrombophilia testing in patients with VTE. Results Of the 266 eligible patients, 189 (71%) underwent testing; 51 (26.9%) tested positive and the results impacted management in 32 (16.9%) of tested patients. Patient undergoing testing were more likely to be younger than 40 years (30.9 vs. 18.2%), have had prior pregnancy loss (9.0 vs. 0%), or known family history of hypercoagulability (24.9 vs. 10.4%), and were less likely to have had provoked VTE (37 vs. 79.2%). The most common thrombophilias tested were antiphospholipid syndrome (60.1%), factor V Leiden (59.7%), and prothrombin gene mutation (57.5%). Direct costs of thrombophilia testing were $2,364.32 per patient, $12,331.55 to diagnose 1 positive, and $19,653.41 per patient-management affected. Conclusion We noted significant variability in selection of patients and panel of tests, sparse utilization of test results in patient management, but high cost associated with thrombophilia testing in patients with VTE. With guidelines advocating selective use of thrombophilia testing and attention to potential impact of test results in patient management, we propose the need for measures at institutional levels to improve test-ordering practices.
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Hornsby, Lori B., Emily M. Armstrong, Jessica M. Bellone, Sarah Treadway, and Haley M. Phillippe. "Thrombophilia Screening." Journal of Pharmacy Practice 27, no. 3 (April 16, 2014): 253–59. http://dx.doi.org/10.1177/0897190014530426.
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Although controversial, screening for thrombophilia has become common. Testing for antiphospholipid antibodies is indicated in order to guide treatment decisions if there is clinical suspicion for antiphospholipid syndrome. The utility of identifying other thrombophilias in symptomatic venous thromboembolism (VTE) is questionable, as the risk of recurrence does not appear to be increased by an appreciable degree with the most common disorders (heterozygosity for factor V Leiden or prothrombin mutation). Although recurrence appears to be increased in those with homozygous or multiple abnormalities and potentially deficiencies in natural anticoagulants, screening to detect these conditions is difficult to justify based on their rarity. The American College of Chest Physicians’ current guidelines note the increased risk of recurrence with idiopathic, proximal events regardless of thrombophilia status. They suggest duration of anticoagulation therapy be based on location and provoking factors rather than whether or not the individual has a thrombophilia. Because routine prophylaxis in asymptomatic individuals with thrombophilia is not recommended, screening of asymptomatic family members is difficult to justify. Screening prior to prescribing combination oral contraceptives is not cost effective, may result in unwanted pregnancies, and may have little effect on the overall rate of VTE.
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Raslan, Omar, Christopher Tran, Fatimah Al-Ani, Luciano Sposato, and Alejandro Lazo-Langner. "Prevalence of Thrombophilia in Transient Ischemic Attack and Ischemic Stroke Patients." Blood 136, Supplement 1 (November 5, 2020): 3. http://dx.doi.org/10.1182/blood-2020-133476.
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Introduction. Screening for inherited thrombophilia has been recommended in patients with cryptogenic ischemic strokes and anticoagulant therapy is frequently indicated based on these results. However, current evidence suggests that thrombophilia screening is over utilized in stroke patients and may provide more risks than benefits. Patients and Methods.We conducted a retrospective cohort study in patients with transient ischemic attack (TIA) or ischemic stroke who had a thrombophilia screen and determined the proportions of each thrombophilia trait, and the proportion of high risk thrombophilia in this population. Pre-specified subgroup analyses were conducted for patients with ischemic stroke and transient ischemic attacks, and for patients with patent foramen ovale. Results.We included 412 patients (152 male and 260 female). The prevalence of thrombophilia was 7.52% (95% CI 5.35-10.48). The proportion of major thrombophilia was 2.18 (95% CI=1.15 - 4.09). The proportion of thrombophilia traits in ischemic stroke patients was lower 4.92% (95% CI 2.61 - 9.08) than that in patients with transient ischemic attacks 9.57% (95% CI = 6.41 - 14.06); Only 2 individuals had both a positive thrombophilia screen and a patent foramen ovale. Discussion. In this study the prevalence of thrombophilia traits in patients with ischemic stroke or transient ischemic attack was low, including high risk thrombophilic traits. Further studies are needed to determine if thrombophilia screening exposes these patients to additional risks without any benefits. Disclosures Sposato: Western University:Other: Kathleen and Dr. Henry Barnett Chair in Stroke Research;Boehringer Ingelheim:Honoraria, Research Funding;Pfizer:Honoraria, Research Funding;Gore:Honoraria, Research Funding;Bayer:Honoraria, Research Funding.
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Behzad, Poopak, Hamid Rezvani, Majid Farshdousti Hagh, Amal Saki, Parviz Fallah, Gelareh Khosravipour, Mohammad Ali Jahangirpour, Tolou Golkar, Shirin Sadat Bolouri Ebrahimi, and Najmaldin Saki. "Thrombophilic Mutations in Iranian Patients With Thrombophilia." Laboratory Medicine 44, no. 1 (February 2013): e62-e68. http://dx.doi.org/10.1309/lmb2hvr9nuqk6wio.
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Carroll, Brett J., and Gregory Piazza. "Hypercoagulable states in arterial and venous thrombosis: When, how, and who to test?" Vascular Medicine 23, no. 4 (July 26, 2018): 388–99. http://dx.doi.org/10.1177/1358863x18755927.
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Evaluation for underlying hypercoagulable states in patients with thrombosis is a frequent clinical conundrum. Testing for thrombophilias is often reflexively performed without strategic approach nor clear appreciation of the clinical implications of such results. Guidelines vary in the appropriate utilization of thrombophilia testing. In this review, we discuss the more commonly encountered inherited and acquired thrombophilias, their association with initial and recurrent venous thromboembolism, arterial thromboembolism, and role in women’s health. We suggest an approach to thrombophilia testing guided by the clinical presentation, suspected pathophysiology, and an understanding of how such results may affect patient care.
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Baymuradova, Seda M., and E. V. Slukhanchuk. "DISABILITY OF PREGNANCY IN PATIENTS WITH “NON-CRITERIA” FACTORS PREDISPOSING TO THE DEVELOPMENT OF THROMBOPHILIA: A MODERN VIEW ON THE PROBLEM." V.F.Snegirev Archives of Obstetrics and Gynecology 5, no. 4 (December 15, 2018): 202–7. http://dx.doi.org/10.18821/2313-8726-2018-5-4-202-207.
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Many practitioners in our country diagnose thrombophilia when detecting thrombogenic mutations, as well as antiphospholipid antibodies. At the same time, there is a rejection of thrombophilia in the genesis of obstetric complications, and its overdiagnosis in healthy women. The incidence of polymorphisms and mutations included in the classification of thrombophilia (the so-called “criterion” forms) among patients with obstetric complications is low. The frequency of hypercoagulable states in patients with obstetric complications is much higher, and their use of pathogenetic therapy leads to a positive outcome. In such patients, combinations of “non-criteria” forms of thrombophilia, a combination of polymorphisms in the genes of one coagulation unit, a combination of hereditary and acquired thrombophilia are detected. The study, which included 350 patients, including early pre-embryonic losses (failures of assisted reproductive technologies, biochemical pregnancy) - 59, spontaneous abortions - 223, antenatal death of the fetus - 68, demonstrated the importance of thrombophilia in the genesis of obstetric complications. The clinical implementation of thrombophilic defects has been shown to be possible both with point “criterion” mutations of thrombophilia and their combination, and with a combination of defects of the hemostasis system, including “non-criteria”, polymorphisms and mutations of genes in one link of the hemostasis system, with combinations of mutations and/or polymorphisms with acquired thrombophilia and/or risk factors.
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Krotin, Mirjana, Marija Zdravkovic, Danica Popovic-Lisulov, Jelena Saric, Dusica Celeketic, Mirna Zaja, and Darko Zdravkovic. "Double-trouble: An unusual case of two simultaneous arterial thromboses in thrombophilia." Open Medicine 7, no. 1 (February 1, 2012): 91–94. http://dx.doi.org/10.2478/s11536-011-0110-5.
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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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Levente, Túrós János, Kiss Szilárd-Leó, Bereczky Lujza-Katalin, Bartha Edina, Lészai Lehel, Szabó Tamás, Györfi Imola, and Szabó Béla. "The prognostic role of thrombophilia in the treatment of infertility." Bulletin of Medical Sciences 91, no. 1 (July 1, 2018): 42–49. http://dx.doi.org/10.2478/orvtudert-2018-0004.
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Abstract Thrombophilia refers to a coagulation disorder that predisposes to thrombosis and thus increases the risk of thrombotic events. Both inherited and acquired thrombophilia are associated with vascular thrombosis and pregnancy-related complications, including infertility, recurrent miscarriage, and premature birth. Recently, thrombophilia has been increasingly encountered as an infertility factor, which gives the clinical relevance of the disease. The aim of the study was to investigate the prognostic role of thrombophilia in the treatment of infertility and the pregnancy of thrombophilic women during assisted reproduction procedures. Frequency of abortions increases and effectiveness of in vitro fertilization (IVF) decreases with age. Normal weight has a positive effect on assisted reproduction techniques (ART’s) outcome. Repeat IVF failure is more common in thrombophilia than in healthy women, and the “take home baby” ratio for IVF is 24%. Spontaneous abortion was most commonly observed in the PAI homozygous group followed by MTHFR homozygous mutation, MTHFR heterozygous mutation, and Factor V (Leiden) mutation. The most effective treatment was concomitant therapy with low molecular weight heparin and aspirin.
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Pranger, Delphine, Veronique Deneys, Corinne Hubinont, Pierre Bernard, Frederic Debieve, Jean-Marc Biard, Augustin Ferrant, and Cedric Hermans. "Relationship between Uteroplacental Blood Flow snd Thrombophilia in Women eith Late Complicated Pregnancies." Blood 104, no. 11 (November 16, 2004): 4016. http://dx.doi.org/10.1182/blood.v104.11.4016.4016.
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Abstract There is a growing body of evidence that thrombophilia is linked to several obstetrical complications, most likely through uteroplacental vascular insufficiency. Very few studies have however evaluated whether alterations of the uteroplacental blood flow, as assessed functionally by Doppler ultrasound analysis, are associated with thrombophilic abnormalities in women with late pregnancy complications. Forty-nine non-smoking women followed during their whole pregnancy in the High Risk Pregnancy Clinic of the Cliniques Universitaires Saint-Luc, Brussels, in 2003 were enrolled in this retrospective study. They all had an unexplained late pregnancy complication (intrauterine growth retardation (IUGR) (n=34), intrauterine fetal death (IUFD) (n=4), preeclampsia (n=11)). They were not treated with anti-thrombotic agents. They all had a complete thrombophilic work-up (functional antithrombin, protein C and S assays, homocystein level, antiphospholipid antibodies (lupus anticoagulant and anticardiolipin antibodies), activated protein C resistance, G20210A prothrombin gene mutation). Doppler evaluation of the uterine arteries (assessed by the presence of bilateral notches after 26 weeks) and umbilical arteries (assessed by resistance index above 90th percentile) was performed. Thrombophilic abnormalities were identified in 8 of 49 (16%) women (factor V Leiden (FVL) (n=4), G20210A prothrombin gene mutation (n=2) and isolated anticardiolipin antibodies (n=2)). Of the 49 women, 20 had an abnormal Doppler (uterine (n=5) and umbilical (n=15)) including IUGR (n=13), IUFD (n=2) and preeclampsia (n=5). Four women with thrombophilia were found to have Doppler abnormalities (4/20; 20%) while most women with Doppler alterations had no thrombophilia. In conclusion, abnormal uteroplacental Doppler findings are frequently found in women with late pregnancy complications. They do not seem to be correlated with the presence of thrombophilic abnormalities even if thrombophilia seems to be more frequent in obstetrical complications.
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Masterson, Monica, Michael Levitt, Patricia Greenberg, David B. Greenberg, and Arthur A. Topilow. "Choosing Wisely in Thrombophilia: Hematologist Required." Blood 128, no. 22 (December 2, 2016): 4994. http://dx.doi.org/10.1182/blood.v128.22.4994.4994.
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Abstract Background: Selection for thrombophilia testing among patients with venous thromboembolism (VTE) is controversial. Choosing Wisely guidelines published by the American Society of Hematology (ASH) recommend against testing patients with VTE provoked by the major transient risk factors of major surgery, immobility and trauma. Testing is most often considered in patients with recurrent VTE, unprovoked VTE, VTE occurring in an unusual site, and a significant family history of VTE. The purpose of this study was to review the practices in thrombophilia testing at Jersey Shore University Medical Center (JSUMC) and Ocean Medical Center (OMC) with respect to these recent recommendations. Methods: A retrospective review at JSUMC and OMC was performed of all adult in-patients who received thrombophilia testing for VTE from November 5, 2014 to May 26, 2015. Baseline characteristics, clinical data, VTE risk factors, and test results were collected. Data were analyzed using Fisher exact tests. Results: Sixty patients were included in this review. Inherited thrombophilias were identified in 16 (26.7%), and acquired thrombophilias were identified in 11 (18.3%). Thrombophilia testing was ordered for 23 patients with provoked VTE, 16 of which had the major transient risk factors of major surgery, immobility and trauma. Testing in these patients would have been excluded by the Choosing Wisely recommendations. The other seven patients whose VTE was provoked had risk factors of oral contraceptives, central venous catheters, malignancy, prolonged travel and active smoking. In this group of 23 VTE provoked patients, positive hypercoagulation tests were seen in eight patients. Hereditary hypercoagulation tests were positive in six patients and positive acquired hypercoagulation tests (unconfirmed by repeat testing in 12 weeks) were seen in two patients. In the remaining 37 patients in whom hypercoagulability testing is often considered (vide supra), 16 patients were found to have positive tests. Testing only for hereditary thrombophilias was positive in seven patients, and testing only for acquired thrombophilia tests was positive (but unconfirmed) in six patients. Testing done for hereditary and acquired thrombophilias was positive in three patients. In our total group of 60 patients, thrombophilias were seen in both provoked and non-provoked cases. There was no significant difference in the number of thrombophilias seen in patients with provoked VTE (again, many of whom would have been excluded by Choosing Wisely) as opposed to the often considered group consisting of those with recurrent VTE, unprovoked VTE, VTE in an unusual site, or a family history of VTE. Unnecessary, incomplete, and inappropriate testing was noted in various scenarios. Inadequate medical history led to six unnecessary duplicate orders for genetic mutation analysis in four patients. In seven patients identified with the lupus anticoagulant confirmation testing was not, to our knowledge, repeated at the required three month interval. Inappropriate testing, as defined by tests that were uninterpretable due to confounding factors such as acute thrombosis and active anticoagulation treatments, were ordered for 41 patients (68.3%). Unwarranted tests, as defined by tests that did not contribute to thrombosis risk assessment (such as MTHFR, JAK2 mutation studies, and coagulation factor assays), were ordered for 32 patients (53.3%). The incidences of inappropriate tests and unwarranted tests decreased when a hematology consultant ordered the diagnostic studies (p=0.04, p=0.01, respectively). Conclusions: Thrombophilias in patients with recurrent VTE, unprovoked VTE, VTE occurring in an unusual site, or a family history of VTE occurred at an equal incidence as in those patients with provoked VTE. Choosing Wisely may limit the selection criteria in testing for the hypercoagulable state. Exclusion criteria for testing needs to be further refined. Inappropriate or unwarranted testing can be avoided by consultation with a hematologist, which should be strongly considered prior to obtaining a thrombophilia evaluation. Disclosures No relevant conflicts of interest to declare.
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Williams, Vaughan, Adrian B. M. Griffiths, Zen L. Yap, James Martin, Gregory Smith, Richard Couper, and Tamas Revesz. "Increased Thrombophilic Tendency in Pediatric Cystic Fibrosis Patients." Clinical and Applied Thrombosis/Hemostasis 16, no. 1 (July 14, 2009): 71–76. http://dx.doi.org/10.1177/1076029609334627.
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Thrombophilia has recently been reported to be increased in patients with cystic fibrosis (CF). We wanted to determine whether this was applicable to our population with CF and how our patients compared to the previously reported groups. Seventy one pediatric CF patients were assessed for a thrombophilic tendency, using a lupus anticoagulant screen, protein C, protein S, antithrombin assay, and activated protein C resistance (APCR) screen. The incidence of activate protein C resistance (4.2%) was within expected limits for the general population as was the incidence of antithrombin deficiency. However there was a marked increase in the incidence of lupus anticoagulants (18%) and 14% and 19.7% of the patients showed a reduced protein C and protein S, respectively, far in excess of the general population. This increased incidence of thrombophilia was not related to any specific CF phenotype and while perturbed liver function cannot be entirely ruled out, it appeared unlikely to be responsible for all the abnormal coagulation findings. Despite the apparent thrombophilic tendency, no clinically evident thrombotic episodes were noted during the study period. Thrombophilia is of concern because of the increasingly frequent placement of indwelling catheters in CF patients. The precise cause for the thrombophilic tendency in CF patients is unknown at this stage.
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Dimitrijevic, Aleksandra, Jovana Bradic, Vladimir Zivkovic, Aleksandra Dimitrijevic, Mirjana Milojevic-Corbic, Janko Djuric, Dragan Vasiljevic, and Vladimir Jakovljevic. "Redox status of pregnant women with thrombophilia." Vojnosanitetski pregled, no. 00 (2021): 1. http://dx.doi.org/10.2298/vsp200908001d.
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Background/Aim. Considering the fact that role of oxidative stress in pathogenesis of thrombophilia in pregnancy has still not been clarified, the aim of our study was to assess the redox status of pregnant women with thrombophilia. Methods. The study involved 120 pregnant women who were divided into two groups: thrombophilia and normal pregnancy group. The thrombophilia group consisted of 60 pregnant women with thrombophilia, while the normal pregnancy group included 60 physiologically healthy pregnant women. Blood samples for biochemical analysis were collected at the end of first, second and third trimester of pregnancy. Concentrations of hydrogen peroxide (H2O2), nitrites (NO2-) and index of lipid peroxidation measured as TBARS were measured in plasma. Level of reduced glutathione (GSH), activities of superoxide dismutase (SOD) and catalase (CAT) were measured in erythrocytes. Results. In women with thrombophilia, NO2- values were increased in the first and third trimester when compared with healthy pregnant women (p<0.05). The higher levels of TBARS and H2O2 were noticed in women with thrombophilia in the first trimester when compared to healthy pregnant women (p<0.05). The values of SOD and CAT were lower in women with thrombophilia in the third and GSH in the first trimester compared to control group (p<0.05). Conclusion. Our results suggest increased generation of pro-oxidants in thrombophillia at the beginning of gestation, which declines as gestation progresses and reaches the similar values as in normal pregnancy at the end of pregnancy. Generally viewed, thrombophilia was associated with impaired antioxidant capacity - SOD and CAT were lower in the third and GSH in the first trimester compared to healthy women.
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Klaassen, Irene L. M., C. Heleen van Ommen, and Saskia Middeldorp. "Manifestations and clinical impact of pediatric inherited thrombophilia." Blood 125, no. 7 (February 12, 2015): 1073–77. http://dx.doi.org/10.1182/blood-2014-05-536060.
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Abstract The etiology of pediatric venous thromboembolic disease (VTE) is multifactorial, and in most children, 1 or more clinical risk factors are present. In addition, inherited thrombophilic disorders contribute to the development of pediatric VTE. In this review, the role of inherited thrombophilic disorders in the development of pediatric VTE, as well as the benefits and limitations of thrombophilia testing, will be discussed.
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Raffini, Leslie. "Thrombophilia in Children: Who to Test, How, When, and Why?" Hematology 2008, no. 1 (January 1, 2008): 228–35. http://dx.doi.org/10.1182/asheducation-2008.1.228.
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AbstractThrombosis and thrombotic risk factors in children are receiving increased attention, and pediatric hematologists frequently are asked to evaluate children with symptomatic thrombosis, or asymptomatic children who have relatives affected with either thrombosis or thrombophilia. The clinical utility of thrombophilia testing has become increasingly debated, both in adults and children. Children with thrombosis are a heterogeneous group, and it is unlikely that a single approach to testing or treatment is optimal or desirable. A causative role of inherited prothrombotic defects in many pediatric thrombotic events, particularly catheter-related thrombosis, has not been established. Pediatric patients most likely to benefit from thrombophilia testing include adolescents with spontaneous thrombosis and teenage females with a known positive family history who are making choices about contraception. Recent data suggest that some inherited thrombophilic defects are associated with a higher risk of recurrent venous thromboembolism in children, though optimal management of these patients has yet to be determined. The decision to perform thrombophilia testing in asymptomatic patients with a family history should be made on an individual basis after discussion with the family. Given that the field of pediatric thrombosis continues to evolve, and the settings in which many of these events occur are unique to childhood, prospective longitudinal analyses of such patients to determine outcome and response to treatment as well as the impact of known thrombophilic states on these outcomes are clearly needed.
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Cacciapuoti, Federico. "Thrombophilias: therapeutic employment of direct oral anticoagulants in venous hypercoagulable states." Italian Journal of Medicine 14, no. 3 (September 17, 2020): 136–42. http://dx.doi.org/10.4081/itjm.2020.1296.
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Thrombophilia or hypercoagulable state is a predisposition to form clots. Thrombophilia can be inherited or acquired, and prevalently involves venous vessels. Inherited thrombophilia consists of congenital conditions, as methylenetetrahydrofolate reductase polymorphism, Factor V Leiden and prothrombin gene mutations, natural anticoagulant deficiencies, high level of factor VIII, or dysfibrinogenemia. These congenital disorders can be responsible for venous thromboembolism, particularly deep venous thrombosis, pulmonary embolism, and, less frequently, mesenteric veins thrombosis, kidneys’ veins thrombosis or retinal vein occlusion. Acquired thrombophilia can be associated both with venous and arterial thrombosis and may be caused by antiphospholipid syndrome, aging, some malignancies, oral contraceptive use, heparin-induced thrombocytopenia, and human immunodeficiency virus. Antiplatelets’ drugs are employed in arterial thrombosis, while, heparins/oral vitamin K antagonists are indicated for acute and long-term anticoagulation. However, new oral anticoagulants can be usefully used for venous thromboembolic events. Recent experiences demonstrated that their employment is useful in some thrombophilias only, whereas other investigations are requested to evaluate their use in all hypercoagulable disorders.
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Jokubaitis, Mantas, Rūta Mineikytė, Lina Kryžauskaitė, Lina Gumbienė, Lina Kaplerienė, Saulius Andruškevičius, and Kristina Ryliškienė. "Testing for Thrombophilia in Young Cryptogenic Stroke Patients: Does the Presence of Patent Foramen Ovale Make a Difference?" Medicina 58, no. 8 (August 5, 2022): 1056. http://dx.doi.org/10.3390/medicina58081056.
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Background and Objectives: The diagnostic value of thrombophilia remains unknown in young patients with patent foramen ovale (PFO) and stroke. In this study we hypothesized that inherited thrombophilias that lead to venous thrombosis are more prevalent in patients with PFO. Materials and Methods: The study included patients of the tertiary center Vilnius University Hospital Santaros Klinikos who had a cryptogenic ischemic stroke between the ages of 18 and 50 between the years 2008 and 2021. Transient ischemic attacks were excluded. Contrast-enhanced transcranial Doppler ultrasound and extensive laboratory testing were performed. Results: The study included 161 cryptogenic stroke patients (mean age 39.2 ± 7.6 years; 54% female), and a right-to-left shunt was found in 112 (69.6%). The mean time between stroke and thrombophilia testing was 210 days (median 98 days). In total, 61 (39.8%) patients were diagnosed with thrombophilia. The most common finding was hyperhomocysteinemia (26.7%), 14.3% of which were genetically confirmed. Two patients (1.2%) were diagnosed with factor V Leiden mutation, three patients (1.9%) with prothrombin G20210A mutation, one patient (0.6%) had a protein C mutation and one patient (0.6%) had a protein S mutation. No antithrombin mutations were diagnosed in our study population. A total of 45.5% of patients with inherited thrombophilia had a right-to-left shunt, while 54.5% did not, p = 0.092. Personal thrombosis anamnesis was positive significantly more often in patients with antiphospholipid syndrome. Conclusions: The hypothesis of the study was rejected since inherited venous thrombophilia was not significantly more common in patients with PFO. Due to the rarity of thrombophilias in general, more research with a larger sample size is required to further verify our findings.
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Samfireag, Miruna, Cristina Potre, Ovidiu Potre, Raluca Tudor, Teodora Hoinoiu, and Andrei Anghel. "Approach to Thrombophilia in Pregnancy—A Narrative Review." Medicina 58, no. 5 (May 23, 2022): 692. http://dx.doi.org/10.3390/medicina58050692.
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Thrombophilia is a genetic predisposition to hypercoagulable states caused by acquired haemostasis conditions; pregnancy causes the haemostatic system to become hypercoagulable, which grows throughout the pregnancy and peaks around delivery. Genetic testing for thrombophilic gene mutations is evaluated using different methodologies of real-time polymerase chain reaction and DNA microarrays of specific genes. Adapting the general care of the pregnant woman to the particularities caused by thrombophilia is an important component, so screening is preferred to assess the degree of genetic damage that manifests itself as a risk of thrombosis. The major goal of this narrative review was to quantitatively evaluate the literature data on the specific care of pregnant women with thrombophilia that are at risk of developing unplanned miscarriages.
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Cooley, Sharon M., Jennifer C. Donnelly, Thomas Walsh, Claire Collins, Corrina McMahon, John Gillan, and Michael P. Geary. "The impact of positive acquired thrombophilia serology on ultrasound, obstetric outcome and the placenta in a low-risk primigravid population." Obstetric Medicine 4, no. 1 (March 2011): 15–19. http://dx.doi.org/10.1258/om.2010.100057.
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Our aim was to determine the prevalence and sequelae of positive acquired thrombophilia serology in the asymptomatic low-risk primigravid population. We undertook a prospective blinded study of 1011 primigravid patients screening for lupus anticoagulant, anticardiolipin antibody, anti- β2 glycoprotein-1 and antinuclear antibody assessment at booking and 36 weeks gestation. Serial ultrasounds of the fetus with uterine and umbilical Dopplers and placental evaluation were performed at 24 and 36 weeks gestation. Antenatal course, labour and delivery outcome and placental histology were reviewed. The incidence of positive acquired thrombophilia serology was 27.4%. Overall, there was no difference in rates of fetal loss or maternal disease between women with positive acquired thrombophilia serology and the control population. Routine testing for acquired thrombophilic traits is therefore not warranted.
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Kuhli-Hattenbach, Claudia, Peter Hellstern, Wolfgang Miesbach, Thomas Kohnen, and Lars-Olof Hattenbach. "Selective Thrombophilia Screening in Young Patients with Retinal Artery Occlusion." Ophthalmologica 235, no. 4 (2016): 189–94. http://dx.doi.org/10.1159/000446028.
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Purpose: To investigate the prevalence of various thrombophilic disorders among young patients with retinal artery occlusion (RAO). Procedures: We retrospectively reviewed thrombophilia screening data of young patients ≤60 years of age with RAO and healthy controls matched for gender and age. Results: Thrombophilia screening data of 25 young patients and 62 healthy controls were analyzed. Mean patient age by the time of the RAO was 43.3 ± 10.8 years. Overall, thrombophilic defects were found to be present in 17 patients (68%) compared with 11 of 62 controls (17.7%; p < 0.0001). Multivariate logistic regression analysis confirmed a statistically significant association between the development of RAO and increased levels of lipoprotein(a) (odds ratio: 9.48; p = 0.001) and factor VIII (odds ratio: 6.41; p = 0.024). There was a strong association between the presence of thrombophilic disorders and a personal or family history of thromboembolism (p = 0.01). Conclusions: Our results indicate that screening for thrombophilic disorders among selected young patients with RAO yields positive results in a high percentage of cases.
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Colucci, Giuseppe, and Dimitrios A. Tsakiris. "Thrombophilia Screening: Universal, Selected, or Neither?" Clinical and Applied Thrombosis/Hemostasis 23, no. 8 (January 4, 2017): 893–99. http://dx.doi.org/10.1177/1076029616683803.
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The utility of thrombophilia testing in clinical practice is still a matter of debate because studies have not shown a benefit in the reduction of recurrent venous thromboembolism (VTE) risk in patients with thrombosis, despite the clearly higher VTE risk for first thrombosis. Screening for thrombophilia is indicated in selected patients. Particularly in selected young patients, especially women of childbearing age, the knowledge of the genetic thrombophilic defect may help in specific situations to decrease the risk of VTE events. Avoidance of modifiable risk factors and/or prophylactic thromboembolic procedures may be evaluated in selected patients. A comprehensive workup including personal and familial history, clinical examination, and laboratory test results including hereditary thrombophilia remains helpful in assessing the cumulative risk and the management of this group of selected patients.
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Shehata, Hassan, Amanda Ali, Mariane Silva-Edge, Shahla Haroon, Abdullatif Elfituri, Radhika Viswanatha, Haider Jan, and Ranjit Akolekar. "Thrombophilia screening in women with recurrent first trimester miscarriage: is it time to stop testing? – a cohort study and systematic review of the literature." BMJ Open 12, no. 7 (July 2022): e059519. http://dx.doi.org/10.1136/bmjopen-2021-059519.
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ObjectiveThere are numerous studies reporting a disproportionally high prevalence of thrombophilia in women with a history of recurrent miscarriage (RM), which has led to overdiagnosis and treatment without an improvement in clinical outcomes. The objective of our study was to assess the prevalence of inherited and acquired thrombophilia in a large cohort of women with a history of early RM using internationally agreed diagnostic criteria and inclusion parameters and compare it to the meta-analysis results of existing literature.MethodsDesignRetrospective cohort study and systematic review of literature.SettingThis is a retrospective cohort study set-up in two dedicated tertiary centres for women with RM in Southwest London and Surrey. We reviewed all the available literature related to causes of RMs. We ascertained the prevalence of thrombophilia in the study population and compared it with historical and published prevalence in the general population.Participants1155 women between 2012 and 2017. All patients had three or more first trimester miscarriages and a full thrombophilia screen.ResultsThe overall prevalence of thrombophilia in our study population is 9.2% (106/1155) with 8.1% (94/1155) of cases positive for inherited thrombophilia, which is similar to the general population; Factor V Leiden (4.9%; 57/1155) and prothrombin gene mutation (2.9%; 34/1155) were the most common inherited thrombophilias, while only 1% (12/1155) tested positive for acquired thrombophilia. Persistent positive lupus anticoagulant (LA) was found in 0.5% (6/1155) and persistent positive anticardiolipin (ACL) antibodies with a value ≥40 U/mL was found in 0.5% (6/1155) of patients. Tests for LA/ACL were performed a minimum of 12 weeks apart thus meeting the revised Sapporo criteria for a diagnosis of antiphospholipid syndrome.ConclusionThe findings of our study demonstrate that the prevalence of inherited thrombophilia is similar in women with RM to that in the general population. Similarly, the prevalence of acquired thrombophilia, using the revised Sapporo criteria, in the cohort of RMs is similar to that in the general population. Therefore, we do not recommend investigation or treatment of inherited or acquired thrombophilia in women with RM.PROSPERO registration numberCRD42020223554.
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Chandra, Manali, Atanu Chandra, Sayantan Chakraborty, and Joydeep Ghosh. "Midbrain infarction in inherited protein S deficiency: a rare association." BMJ Case Reports 14, no. 10 (October 2021): e246073. http://dx.doi.org/10.1136/bcr-2021-246073.
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Inherited thrombophilic disorders are well‐established predisposing factors for venous thromboembolism, but their role in arterial ischaemic stroke is uncertain. The exact mechanism of arterial thrombosis in thrombophilias remains elusive. Herein, we report a case of a 30-year-old woman who was admitted to our facility with sudden-onset right-sided ptosis and ophthalmoplegia. Detailed clinical features, neuroimaging and laboratory evaluation clinched the diagnosis of ischaemic stroke in midbrain due to microvascular obstruction associated with isolated protein S deficiency. She was treated with oral anticoagulant (warfarin) and physiotherapy; without any improvement of her symptoms at 2 months of follow-up. A high index of clinical suspicion is needed in any case of young ischaemic stroke in absence of common cardiac and vascular risk factors, to recognise the presence of inherited thrombophilia.
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Rossi, Elena, Tommaso Za, Angela Ciminello, Giuseppe Leone, and Valerio Stefano. "The risk of symptomatic pulmonary embolism due to proximal deep venous thrombosis differs in patients with different types of inherited thrombophilia." Thrombosis and Haemostasis 99, no. 06 (2008): 1030–34. http://dx.doi.org/10.1160/th08-02-0069.
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SummaryIt is uncertain whether the presence of inherited thrombophilia influences the risk of developing symptomatic pulmonary embolism (PE) and whether different thrombophilic alterations are associated with different risks of symptomatic PE. To investigate such issue, we retrospectively studied 920 patients with proximal deep vein thrombosis (DVT) of the legs with or without symptomatic PE referred for thrombophilia screening; patients with overt cancer or antiphospholipid antibodies had been excluded. Three hundred fifty-four patients (38.5%) had deficiency of antithrombin (AT, n=16), protein C (PC, n=26), protein S (PS, n=22), factor V Leiden (FVL, n=168), prothrombin G20210A (PT-GA, n=87), or multiple abnormalities (n=35), and 566 had none of the studied thrombophilic abnormalities. Symptomatic PE complicated the first DVT in 242 patients (26%); the risk of PE was increased in patients with AT deficiency (relative risk [RR] 2.4, 95% confidence interval [CI] 1.6–3.6) or with PT-GA (RR 1.5, 95%CI 1.1–2.0) and decreased in those with FVL (RR 0.7, 95%CI 0.5–1.0) in comparison with those with unknown inherited defect. These data suggest that patients with proximal DVT have different risks of symptomatic PE according to the type of inherited thrombophilia.
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Bates, Shannon M. "Management of Pregnant Women with Thrombophilia or a History of Venous Thromboembolism." Hematology 2007, no. 1 (January 1, 2007): 143–50. http://dx.doi.org/10.1182/asheducation-2007.1.143.
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Abstract Pregnancy is associated with an increased risk of venous thromboembolism (VTE), and this condition remains an important cause of maternal morbidity and mortality. Approximately 50% of gestational VTE are associated with thrombophilia. Recent studies suggest that there is also a link between thrombophilia and pregnancy loss, as well as other gestational vascular complications. Although the most compelling data derive from women with antiphospholipid antibodies, the use of anticoagulation for prevention of these complications in women with heritable thrombophilia is becoming more frequent. This article reviews the management and prevention of VTE and other complications related to the heritable thrombophilias during pregnancy, an area that remains particularly challenging because of the potential for anticoagulant-related fetal as well as maternal complications and the paucity of good-quality data upon which to base clinical decisions.
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Hoffman, R., Z. Blumenfeld, Z. Weiner, J. S. Younis, and B. Brenner. "Gestational Outcome in Thrombophilic Women with Recurrent Pregnancy Loss Treated by Enoxaparin." Thrombosis and Haemostasis 83, no. 05 (2000): 693–97. http://dx.doi.org/10.1055/s-0037-1613894.
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SummaryInherited and acquired thrombophilia are associated with recurrent pregnancy loss (RPL). We have evaluated the efficacy and safety of the low molecular weight heparin enoxaparin in 50 women, (mean age 26 ± 3 years) with RPL (>3 losses in 1st, >2 losses in 2nd and >1 loss in 3rd trimester) who were found to harbor thrombophilia. Twentyseven had a solitary thrombophilic defect, and twenty-three women had combined thrombophilic defects: 17 – two defects and 6 – three defects. Following diagnosis of thrombophilia, sixty-one subsequent pregnancies were treated with the low molecular weight heparin enoxaparin throughout gestation until 4 weeks after delivery. Dosage was 40 mg/day in women with solitary defect and 80 mg/day in combined defects. Aspirin, 75 mg daily was given in addition to enoxaparin to women with antiphospholipid syndrome. Forty-six out of 61 (75%) gestations treated by enoxaparin resulted in live birth compared to only 38/193 (20%) of the untreated pregnancies in these 50 women prior to diagnosis of thrombophilia (p <0.00001). In 23 women without a single living child following 82 untreated gestations, antithrombotic therapy resulted in 26/31 (84%) successful deliveries (p <0.0001). In 20 women with a prior living child, antithrombotic therapy improved successful delivery from 33/86 (38%) to 20/21 (95%) (p <0.0001). Enoxaparin dose of 40 mg/day resulted in live birth in 24/35 (69%) of gestations, compared to 19/23 (83%) gestations in women treated with 80 mg/day (p = 0.37). Only one thrombotic episode and one mildbleeding episode were noticed during enoxaparin therapy. Enoxaparin is safe and effective in prevention of pregnancy loss in women with inherited and acquired thrombophilia.
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Margetić, Sandra. "Laboratory Investigation of Thrombophilia / LABORATORIJSKO ISPITIVANJE TROMBOFILIJA." Journal of Medical Biochemistry 33, no. 1 (January 1, 2014): 28–46. http://dx.doi.org/10.2478/jomb-2013-0041.
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Summary Laboratory investigation of thrombophilia is aimed at detecting the well-established hereditary and acquired causes of venous thromboembolism, including activated protein C resistance/factor V Leiden mutation, prothrombin G20210A mutation, deficiencies of the physio - logical anticoagulants antithrombin, protein C and protein S, the presence of antiphospholipid antibodies and increased plasma levels of homocysteine and coagulation factor VIII. In contrast, investigation of dysfibrinogenemia, a very rare thrombophilic risk factor, should only be considered in a patient with evidence of familial or recurrent thrombosis in the absence of all evaluated risk factors mentioned above. At this time, thrombophilia investigation is not recommended for other potential hereditary or acquired risk factors whose association with increased risk for thrombosis has not been proven sufficiently to date. In order to ensure clinical relevance of testing and to avoid any misinterpretation of results, laboratory investigation of thrombophilia should always be performed in accordance with the recommended guidelines on testing regarding the careful selection of patients, time of testing and assays and assay methods used. The aim of this review is to summarize the most important aspects on thrombophilia testing, including whom and when to test, what assays and assay methods to use and all other variables that should be considered when performing laboratory investigation of thrombophilia.
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TOPOLEANU, SIMONA, CRISTINA MAMBET, LUMINITA MARUTESCU, FLORENTINA IVAN, IRINA ALINA CUCU, ANTOANELA CURICI, and ILEANA STOICA. "Carrier frequencies for thrombophilia-related genetic variants in a Romanian cohort." Romanian Biotechnological Letters 26, no. 1 (January 1, 2021): 2275–82. http://dx.doi.org/10.25083/rbl/26.1/2275.2282.
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Genetic testing for hereditary thrombophilia, an inherited predisposition to thrombotic events, is increasingly available. To evaluate the rate of positive thrombophilia tests in our laboratory we analyzed the carrier status for common thrombophilia-related gene variants in a consecutive unselected cohort of 360 Romanian patients. Genetic tests were performed on a Real-Time PCR platform. Majority of patients (98.6%) carried at least one thrombophilic variant. The carrier frequencies for classical prothrombotic mutations in F5 (Factor V Leiden) and F2 genes (prothrombin G20210A mutation) were 11.67% (10.27% heterozygous, 1.4% homozygous) and 6.95% (6.39% heterozygous, 0.56% homozygous), respectively. Concurrently, high carrier frequencies for MTHFR c.677C>T, MTHFR c.1298A>C, and PAI-1 4G/5G variants, that are controversially associated with thrombophilia, were observed: 65.28% (52.5% heterozygous, 12.78% homozygous), 53.61% (45% heterozygous, 8.61% homozygous), and 78.61% (49.44% heterozygous, 29.17% homozygous), respectively. The impact of MTHFR genotypes on plasma homocysteine levels was also determined. Male carriers of TT homozygous genotype and CT heterozygous genotype of MTHFR C677T polymorphism had significantly higher levels of plasma homocysteine unrelated to age, compared to those harboring CC homozygous genotype (P=0.028). In unselected patients a high rate of positive thrombophilia tests was observed and the clinical implications of such results need to be carefully examined.
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Kenet, Gili, Ayala Maayan-Metzger, Nurit Rosenberg, Ben-Ami Sela, Ram Mazkereth, Aviyah Ifrah, and Jacob Kuint. "Thrombophilia does not increase risk for neonatal complications in preterm infants." Thrombosis and Haemostasis 90, no. 11 (2003): 823–28. http://dx.doi.org/10.1160/th03-02-0089.
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SummaryThe association between thrombophilia and neonatal complications was evaluated in a single-center prospective study. Prevalence of genetic prothrombotic markers (FVL, MTHFR, FIIG20210A) and levels of plasma homocysteine were assayed in 166 premature (mean gestational age: 30.9±2.3 weeks) and low birth weight (mean weight: 1327±319 grams) infants. The incidence of any neonatal complications was compared in infants with and without thrombophilia. A total of 38 infants were defined as “thrombophilic” due to heterozygous FVL (n=4) and/or FIIG20210A (n=8, including one case of combination with FVL) or homozygous 677T MTHFR (n=22) or homo-cysteine plasma levels above 15µmole/liter. Neonatal complications included: small for gestational age (28.8%), respiratory distress syndrome (51.8%), broncho-pulmonary dysplasia (10.2%), patent ductus arteriosus (12.7%), intraventricular hemorrhage (17%), periventricular leucomalacia (8.4%), retinopathy of prematurity (15.1%) and necrotizing enterocolitis in 1.2% of infants. No thrombosis was documented. The prevalence of perinatal complications and the severity of diseases were similar among infants with or without thrombophilia (p=0.564). Our data suggest that preterm infants with thrombophilia are not at increased risk for developing neonatal complications.
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Nagy, Andrea, Gábor Mogyorósy, Csongor Kiss, István Pataki, Shemirani Amir Houshang, and Éva Oláh. "In utero thrombosis of neonates: inhereted thrombophilia?" Orvosi Hetilap 150, no. 16 (April 1, 2009): 743–46. http://dx.doi.org/10.1556/oh.2009.28574.
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A thromboembolia ritkán előforduló betegség gyermekkorban. Leggyakrabban újszülött- és adolescens korban észlelhető. Incidenciája az irodalmi adatok szerint 5,1/100000 élveszülés. Közleményükben a szerzők 1996 és 2006 között a Debreceni Egyetem, Orvos- és Egészségtudományi Centrum, Gyermekgyógyászati Intézet, Neonatológiai Intenzív Osztályon diagnosztizált és kezelt hét thrombosisos újszülöttnél (2,5/1000 felvétel) tapasztalt kórlefolyást ismertetik és tapasztalataikat összegzik. A hétből három esetben a thrombosis már intrauterin kialakult. Mindhárom esetben igazolódott az anyai thrombophilia, más rizikófaktor (infekció) csak egy betegnél szerepelt. Az újszülöttek in vivo, illetve post mortem vizsgálata során egyik esetben sem igazolódott az anyáéval azonos típusú thrombophilia. Mindezek alapján a szerzők feltételezik, hogy az anyai thrombophilia okozta hajlam talaján egyéb, eseteikben nem igazolható provokatív faktorok szerepelhetnek kórokként. Tapasztalataik alapján javasolják a thrombophiliás anyák és magzataik terhesség alatti fokozott ellenőrzését.
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Altomare, Ivy, and Louis M. Aledort. "Is Homozygosity for the MTHFR C677T Mutation a Risk Factor for Miscarriage? — Likely." Blood 108, no. 11 (November 16, 2006): 4079. http://dx.doi.org/10.1182/blood.v108.11.4079.4079.
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Abstract Various hereditary thrombophilias such as activated protein C resistance, the factor V leiden mutation, the prothrombin G20210A mutation, protein S deficiency, hyperhomocysteinemia, or combinations of the above disorders have been linked to pregnancy loss at varying stages of gestation (Robertson L, et al. Thrombophilia in pregnancy: a systematic review. Br J Haematol2006;132(2):171–96; Seligsohn U, et al. Genetic susceptibility to venous thrombosis. N Engl J Med2001;344(16):1222–31). The literature regarding methylenetetrahydrofolate reductase (MTHFR) mutations is confusing. Much of the evidence supporting a causal relationship between MTHFR mutations and early fetal loss comes from individual case reports with little outcome data. Three recent meta-analyses of thrombophilia in pregnancy concluded that although there may be a trend toward higher risk, the relationship between MTHFR mutations and spontaneous abortions is not truly significant (Robertson L, et al. Thrombophilia in pregnancy: a systematic review. Br J Haematol2006;132(2):171–96; Nelen WL, et al. Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis. Fertil Steril2000;74(6):1196–9; Rey E, et al. Thrombophilic disorders and fetal loss: a meta-analysis. Lancet2003;361(9361):901–8). In contrast, a study supporting the role of MTHFR mutations in recurrent unexplained abortions found a 2–3 fold increased risk of early fetal loss among Caucasian females homozygous for the C677T mutation versus normal controls (Nelen WL, et al. Genetic risk factor for unexplained recurrent early pregnancy loss. Lancet1997;350(9081):861). We present 5 patients with this genetic defect who presented consecutively to our clinic for decision making for future pregnancies. Each had strong histories of miscarriages after the 8th week of gestation. The clinical features of these patients are reported in the table below. Each woman is Caucasian, and is homozygous for the MTHFR C677T mutation with no other acquired or hereditary thrombophilias. Homocysteine levels were also in normal range for each patient. Our case series of 5 Caucasian women gives support to the theory of a causal relationship between MTHFR mutations and fetal loss. We recommended anticoagulation with low-molecular weight or unfractionated heparin for each patient as a therapeutic intervention to reduce the risk of recurrent abortion in future pregnancies.