Cerebral venous thrombosis associated with homozygous factor V Leiden mutation in a 15-year-old girl of Tunisian origin

Salem-Berrabah, Olfa Ben; Fekih-Mrissa, N.; Laayouni, Samy; Gritli, Nasreddine; Mrissa, Ridha

doi:10.4103/0256-4947.87106

Cited by 4 publications

(1 citation statement)

References 13 publications

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“…FII (the proenzyme of thrombin) is a vitamin K–dependent glycoprotein that converts fibrinogen into fibrin. A common genetic variation, g.20210G > A, in the 3′- untranslated region of the FII gene is associated with increased plasma prothrombin levels ( 8 ). Although the above mentioned FV and FII genetic variants are established risk factors for venous thrombosis, their contribution to arterial atherothrombotic disease like stroke is controversial ( 9 ).…”

Section: Introductionmentioning

confidence: 99%

The Association of Coagulation Factor V (Leiden) and Factor II (Prothrombin) Mutations with Stroke

Pirhoushiaran¹,

Ghasemi²,

Hami³

et al. 2014

Iran Red Crescent Med J

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Background:Epidemiological studies indicate that over the past forty years, the stroke incidence rates has increased. Factors V and II mutations are established genetic-variant risk factors for venous thrombosis; however, their contribution to stroke is a controversial issue.Objectives:This study aimed to investigate the potential association of FV and FII mutations with stroke in an Iranian population.Patients and Methods:The study population consisted of 153 patients of different stroke subtypes (except cryptogenic strokes), admitted to Ghaem Hospital, Mashhad, Iran. The control group included 153 age- and sex-matched subjects without a history of cerebrovascular or neurologic diseases. Mutations of FV and FII were determined by using a TaqMan SNP Genotyping technique. The chi-square and Exact Fisher tests were used to analyze the baseline characteristics. Results were as follows: The calculated P-value for sex and diabetes mellitus were 0.907 and 1.000, respectively. The case and control groups were also matched in low density lipoprotein (P = 0.816), high density lipoprotein (P = 0.323), triglyceride (P = 0.846), and total cholesterol (P = 0.079).Results:Analysis of the FV showed that none of the study subjects were AA homozygous for this mutation and only 6 heterozygous subjects were detected in the case and control groups. Regarding FII variants, none of the study subjects were AG heterozygous and only 1 AA homozygous was detected in the control group.Conclusions:The prevalence of both FV and FII variants are population based. Iran is an ethnically diverse country. Therefore, for a comprehensive analysis of a potential association of FV and/or FII mutations with stroke among Iranian population, epidemiological studies could be conducted among different ethnic groups.

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Section: Introductionmentioning

confidence: 99%

The Association of Coagulation Factor V (Leiden) and Factor II (Prothrombin) Mutations with Stroke

Pirhoushiaran¹,

Ghasemi²,

Hami³

et al. 2014

Iran Red Crescent Med J

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Correlation with Platelet Parameters and Genetic Markers of Thrombophilia Panel (Factor II g.20210G>A, Factor V Leiden, MTHFR (C677T, A1298C), PAI-1, β-Fibrinogen, Factor XIIIA (V34L), Glycoprotein IIIa (L33P)) in Ischemic Strokes

et al. 2016

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An important type of arterial thrombosis, ischemic stroke is associated with increased mortality risk, severe disability and life quality impairment. In this study, we analyzed mean platelet volume, platelet count values and genetic thrombophilia markers of patients who have ischemic stroke history and searched the relationship with genetic predisposition of ischemic strokes and platelet parameters. A retrospective, clinical trial was performed by reviewing the ischemic stroke history (except cryptogenic events) of 599 patients and 100 controls. The results of the genetic thrombophilia panel were used to classify the study group and control group into low and high risk for thrombophilia groups. The high-risk group included patients homozygous/heterozygous for Factor II g.20210G>A or Factor V Leiden mutations with/without any other polymorphism. The low-risk group included patients heterozygous or homozygous for MTHFR (C677T, A1298C), PAI-1, β-fibrinogen, Factor XIIIA (V34L) and glycoprotein IIIa (L33P) polymorphisms or negative in terms of both mutations and polymorphisms. The results of study showed us that high-risk group mutations are important risk factors for ischemic stroke but low-risk group polymorphisms are not significant. According to platelet parameters, although there was a significant difference between MPV and PLT values of ischemic stroke and control group, thrombophilia mutations and polymorphisms have not a significant effect on MPV and PLT values in ischemic stroke patients.

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The effects of Factor II (rs1799963) polymorphism on recurrent pregnancy loss in Iranian Azeri women

et al. 2017

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Cerebral venous thrombosis associated with homozygous factor V Leiden mutation in a 15-year-old girl of Tunisian origin

Cited by 4 publications

References 13 publications

The Association of Coagulation Factor V (Leiden) and Factor II (Prothrombin) Mutations with Stroke

The Association of Coagulation Factor V (Leiden) and Factor II (Prothrombin) Mutations with Stroke

Correlation with Platelet Parameters and Genetic Markers of Thrombophilia Panel (Factor II g.20210G>A, Factor V Leiden, MTHFR (C677T, A1298C), PAI-1, β-Fibrinogen, Factor XIIIA (V34L), Glycoprotein IIIa (L33P)) in Ischemic Strokes

The effects of Factor II (rs1799963) polymorphism on recurrent pregnancy loss in Iranian Azeri women

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