Risk assessment of venous thrombosis in families with known hereditary thrombophilia: the MARseilles‐NImes prediction model

Cohen, William; Castelli, Christel; Suchon, Pierre; Bouvet, Sophie; Aillaud, Marie-Françoise; Brunet, D.; Barthet, Marie-Christine; Alessi, Marie‐Christine; Trégouët, David‐Alexandre; Morange, Pierre‐Emmanuel

doi:10.1111/jth.12461

Cited by 21 publications

(16 citation statements)

References 29 publications

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“…However, recent literature has emphasized the high prevalence of VTE in this patient population. In fact, one study reported that the rate of VTE in patients with SCD was close to that observed in those with hereditary thrombophilias [37]. In another study, upon evaluation of over 1.5 million SCD admissions between 1979 and 2003, it was found that these patients had a risk of PE approximately 3.5 times higher than their African American controls [38].…”

Section: Venous Thromboembolism and Pulmonary Embolismmentioning

confidence: 93%

Pulmonary Complications of Sickle Cell Disease in the Pregnant Patient

Lazo¹

2017

Int J Respir Pulm Med

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Respiratory complaints are common symptoms in pregnancy, and it is important to delineate whether the causative factor is cardiac, pulmonary, or physiologic in origin. The pathophysiology of Sickle Cell Disease (SCD) can further complicate the differential diagnosis. To our knowledge, there is little to no literature devoted to the management of pulmonary complications in the pregnant sickle cell patient. Therefore we present a review of the current literature and feature reports on the incidence and prevalence of the pulmonary complications in a sickle cell pregnancy. These include Acute Chest Syndrome (ACS), Pulmonary Hypertension (PH), Pulmonary Embolism (PE), and sickle cell chronic lung disease. We also aim to recommend management strategies that address the SCD-related pulmonary complications in the pregnant state.

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Section: Venous Thromboembolism and Pulmonary Embolismmentioning

confidence: 93%

Pulmonary Complications of Sickle Cell Disease in the Pregnant Patient

Lazo¹

2017

Int J Respir Pulm Med

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“…For primary prevention of VTE, several risk prediction models applicable to asymptomatic carriers of hereditary thrombophilia have been derived from case-control studies. [109][110][111] The number of genetic markers in these models varies greatly and can include more than 30 SNPs. 110 Some scores combine genetic elements with other risk factors such as age and family history of VTE.…”

Section: Areas For Advancementmentioning

confidence: 99%

Thrombophilic Evaluation in Patients with Acute Pulmonary Embolism

Stevens

Ansell

2017

Semin Respir Crit Care Med

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Patients with acute pulmonary embolism (PE) are often tested for thrombophilias, which are hereditary and acquired conditions that predispose to thrombosis. If a hereditary condition is identified, then testing is often performed on members of the patient's family. Testing for these conditions can be complex, as the presence of acute thrombosis and antithrombotic therapies can make the results of many tests unreliable. Many risk factors for thrombosis exist that are not routinely assessed by laboratory testing, and it is likely that many hereditary thrombophilia conditions remain to be discovered. Also, various risk factors for thrombosis interact with one another. Therefore, the results of a laboratory thrombophilia evaluation provide a limited ability to assess a patient or family members' risk for future thrombosis, and such testing usually does not provide information that improves a management decision. Thrombophilia testing is expensive and carries potential risks. This article reviews common thrombophilias, their epidemiology and classification, and timing and technical aspects of accurate testing and provides rational suggestions for the use of thrombophilia testing in five clinical situations: (1) following provoked PE (or other venous thromboembolism), (2) following unprovoked venous thromboembolism, (3) in relatives of patients with thrombosis, (4) in female relatives of patients with thrombosis considering estrogen use, and (5) in female relatives of patients with thrombosis who are considering pregnancy. Published guidelines and guidance statements from professional societies and other groups are also reviewed. Clinicians should carefully consider the relevant risks and benefits before testing patients for thrombophilia. When performed, testing should be timed correctly and care should be taken to properly interpret results. New models that incorporate multiple genetic and clinical markers may improve the utility of testing, but these await further research.

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“…It is associated with the presence of polymorphic variants of two coagulation factors: FV R506Q, better known as factor Leiden, and prothrombin (PT) G20210A [6]. Furthermore, although its role in thrombosis development is indirect and more complex, polymorphism of gene encoding for methylenetetrahydrofolate reductase (MTHFR C677T), the enzyme engaged in homocysteine metabolism, is also involved [7][8][9].…”

Section: Introductionmentioning

confidence: 99%

The prevalence of combined pro-thrombotic polymorphisms in patients with recurrent deep vein thrombosis – does genetic testing provide any benefit?

Krejner¹,

Litwiniuk²,

Radziejewska-Choma³

et al. 2015

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Introduction: Deep vein thrombosis (DVT) constitutes a serious clinical, social, and economic problem. Factors predisposing to DVT development include acquired (immobilisation, injury) and inherited (genetic thrombophilia) forms. However, DVT itself is also the risk factor for disease recurrence. Diagnostic algorithms for DVT concern ultrasound examination and D-dimer measurement. Genetic tests, although potentially useful, are not performed routinely. Therefore, the aim of the study was to evaluate whether genetic tests provide any benefit in patients with DVT. Material and methods:The frequency of common pro-thrombotic polymorphisms -FV R506Q, PT G20210A, and minor risk MTHFR C677T -was assessed in 40 patients with recurrent DVT, in correlation to patients' clinical history. DNA samples from a former large population study (n = 102) were used as population control. Results: The frequency of FV 506Q and PT 20210A in DVT patients was higher than in the control group (32.5% vs. 8.8% and 10.0% vs. 2.0%, respectively), whereas MTHFR 677T did not differ (57.5% vs. 54.9%). Twenty two and one-half percent of patients and 41.2% of controls revealed wild-type genotype, whereas single heterozygote concerned 40% of patients and 52.9% of controls. Two or more polymorphic alleles were found in 15 of 40 DVT patients (37.5%), but only in 12 of 102 controls (12.8%). Moreover, the allele coexistence correlated with the clinical course of DVT. Conclusions:The results of the study suggest that assessment of main pro-thrombotic polymorphisms, including MTHFR C677T, may help to predict the course of DVT, so it could be recommended even after first episode of DVT. However, further prospective studies are necessary.

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Risk assessment of venous thrombosis in families with known hereditary thrombophilia: the MARseilles‐NImes prediction model

Cited by 21 publications

References 29 publications

Pulmonary Complications of Sickle Cell Disease in the Pregnant Patient

Pulmonary Complications of Sickle Cell Disease in the Pregnant Patient

Thrombophilic Evaluation in Patients with Acute Pulmonary Embolism

The prevalence of combined pro-thrombotic polymorphisms in patients with recurrent deep vein thrombosis – does genetic testing provide any benefit?

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