Factor V Leiden Mutation in a Case with Ischemic Stroke: which Relationship?

Angiology ◽  
1998 ◽  
Vol 49 (1) ◽  
pp. 79-82 ◽  
Author(s):  
Giovanni Orlandi ◽  
Alberto Pellegrinetti ◽  
Cristina Fioretti ◽  
Antonio Martini ◽  
Luigi Murri
2005 ◽  
Vol 11 (3) ◽  
pp. 339-342 ◽  
Author(s):  
Nur Buyru ◽  
Julide Altinisik ◽  
Goksel Somay ◽  
Turgut Ulutin

Several studies indicate a high prevalence of factor V Leiden mutation as the most frequent coagulation defect found in patients with venous thrombosis. The relationship between this mutation and cerebrovascular disease has not been established in adults. In this investigation, we studied 29 patients with ischemic stroke and 20 with intracerebral hemorrhage, all of whom were compared with 20 controls. A region of the factor V gene containing the Leiden mutation site was amplified with polymerase chain reaction and the presence of mutation was determined with restriction enzyme digestion. We found no evidence of an association between factor V Leiden mutation and ischemic stroke or intracerebral hemorrhage. There was no evidence of association in subgroup the analysis by age, smoking status, myocardial infarction, hypertension, diabetes mellitus, or coronary disease. Factor V Leiden mutation doesn’t seem to be associated with a risk of cerebrovascular disease.


1998 ◽  
Vol 55 (8) ◽  
pp. 1137 ◽  
Author(s):  
James F. Meschia ◽  
José Biller ◽  
Thomas Witt ◽  
Anne Greist ◽  
Steve N. Rhinehart

Author(s):  
A.A. Abrishamizadeh

Ischemic stroke (IS) is a common cause of morbidity and mortality with significant socioeconomic impact especially when it affects young patients. Compared to the older adults, the incidence, risk factors, and etiology are distinctly different in younger IS. Hypercoagulable states are relatively more commonly detected in younger IS patients.Thrombophilic states are disorders of hemostatic mechanisms that result in a predisposition to thrombosis .Thrombophilia is an established cause of venous thrombosis. Therefore, it is tempting to assume that these disorders might have a similar relationship with arterial thrombosis. Despite this fact that 1-4 % of ischemic strokes are attributed to Thrombophillia, this   alone rarely causes arterial occlusions .Even in individuals with a positive thrombophilia screen and arterial thrombosis, the former might not be the primary etiological factor.Thrombophilic   disorders can be broadly divided into inherited or acquired conditions. Inherited thrombophilic states include deficiencies of natural anticoagulants such as protein C, protein S, and antithrombin III (AT III) deficiency, polymorphisms causing resistance to activated protein C(Factor V Leiden mutation), and disturbance in the clotting balance (prothrombin gene 20210G/A variant). Of all the inherited  thrombophilic disorders, Factor V Leiden mutation is perhaps the commonest cause. On the contrary, acquired thrombophilic disorders are more common and include conditions such as the antiphospholipid syndrome, associated with lupus anticoagulant and anticardiolipin antibodies.The more useful and practical approach of ordering various diagnostic tests for the uncommon thrombophilic states tests should be determined by a detailed clinical history, physical examination, imaging studies and evaluating whether an underlying hypercoagulable state appears more likely.The laboratory thrombophilia   screening should be comprehensive and avoid missing the coexisting defect and It is important that a diagnostic search protocol includes tests for both inherited and acquired thrombophilic disorders.Since the therapeutic approach (anticoagulation and thrombolytic therapy) determines the clinical outcomes, early diagnosis of the thrombophilic  disorders plays an important role. Furthermore, the timing of test performance of some of the  thrombophilic  defects (like protein C, protein S, antithrombin III and fibrinogen levels) is often critical since these proteins can behave as acute phase reactants and erroneously elevated levels of these factors may be observed in patients with acute thrombotic events. On the other hand, the plasma levels of vitamin K-dependent proteins (protein C, protein S and APC resistance) may not be reliable in patients taking vitamin K antagonists. Therefore, it is suggested that plasma-based assays for these disorders should be repeated3 to 6 months after the initial thrombotic episode to avoid false-positive results and avoid unnecessary prolonged   anticoagulation therapy. The assays for these disorders are recommended after discontinuation of oral anticoagulant treatment or heparin for at least 2 weeks.    


1998 ◽  
Vol 80 (11) ◽  
pp. 763-766 ◽  
Author(s):  
Z. Bodó ◽  
Jutta Plotho ◽  
W. Streif ◽  
Ch. Male ◽  
G. Bernert ◽  
...  

SummaryObjective: To investigate if the factor V Leiden mutation (F-V-LM) and/or the prothrombin gene G 20210 A variant (P-G20210A-V) are risk factors for acute stroke in Austrian children. Patients: 33 children with acute ischemic stroke documented by computer tomography and/or magnetic resonance imaging of the brain were enrolled in an open multicenter survey. Results: 6/33 children had F-V-LM (5 heterozygous, 1 homozygous). This represents 18% (95% CI: 6.7-39.9%) of our pediatric stroke population and thus exceeds the expected prevalence in the Austrian population of 4,6% (Fischer’s exact test, p = 0.01). F-V-LM was not found in 11 children with neonatal stroke but in 6/22 children with stroke after the neonatal period. 5/6 children with F-V-LM had an underlying disorder that is a risk factor for stroke in children. The P-G20210A-V was detected in 1/26 (3.85%; 95% CI: 0.1-21.4%) patients. Comparison of the prevalence of P-G20210A-V in our study with that in the general population of Austria of 1% revealed no statistical significance (Fischer’s exact test, p = 0.38). Conclusion: Our data suggest that the F-V-LM is a risk factor for acute stroke in Austrian children beyond the neonatal period. The P-G20210A-V apparently does not represent a risk factor for stroke in Austrian children.


2005 ◽  
Vol 94 (12) ◽  
pp. 1331-1332 ◽  
Author(s):  
Konstantinos P. Letsas ◽  
Gerasimos S. Filippatos ◽  
Stavros P. Kounas ◽  
Loukas K. Pappas ◽  
Fotios Kardaras ◽  
...  

 


2002 ◽  
Vol 23 (5) ◽  
pp. 229-231 ◽  
Author(s):  
G. Bezzi ◽  
W. Bolzani ◽  
V. Compagnoni ◽  
R. Galimi ◽  
M.G. Palmieri ◽  
...  

2021 ◽  
Author(s):  
Rodrigo Tavares Brisson ◽  
Josevânia Fulgêncio de Lima Arruda ◽  
Liene Duarte Silva ◽  
Dilermando Leal Júnio de Jesus ◽  
Viviane Flumignan Zetola ◽  
...  

ABSTRACT We report two cases of Brazilian patients (a 22-year-old male and a 48-year-old male) with ischemic stroke, whose arterial vascular study and echocardiographic investigation did not reveal any steno-occlusive arterial disease or typical cardioembolic finding, such as atrial fibrillation or myocardial dysfunction. A transcranial Doppler ultrasound and a transesophageal echocardiogram showed a patent foramen ovale (PFO), and the laboratory screening for coagulation abnormalities showed heterozygosity for MTHFR C677T and A1298C in one of the patients and heterozygosity for factor V Leiden gene mutations in the other patient. The significance of the association of PFO with Methylenetetrahydrofolate (MTHFR) C677T and A1298C variants or factor V Leiden mutation is discussed as a possible cause of ischemic stroke through paradoxical embolism from a venous source. There is a high prevalence of these two mentioned conditions in the general population, so we discuss two cases in which indication for anticoagulant therapy or percutaneous closure of PFO prevails.


2004 ◽  
Vol 251 (11) ◽  
pp. 1406-1407 ◽  
Author(s):  
Achim Allroggen ◽  
Ralf Dittrich ◽  
Martin Ritter ◽  
Rainer Dziewas ◽  
Ralf Junker ◽  
...  

2014 ◽  
Vol 30 (S1) ◽  
pp. 335-337
Author(s):  
P. S. Ghalaut ◽  
Joginder Duhan ◽  
Vikas Chaudhary ◽  
Hemant Krishan Dahiya ◽  
Sumin Kaushik ◽  
...  

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