Activated protein C resistance, factor V Leiden and peripheral vascular disease

Foley, Paul; Irvine, C.; Standen, Graham R.; Morse, C.; Smith, Fabienne; McGrath, Cpj; Baird, RN; Lamont, PM

doi:10.1016/s0967-2109(96)00074-9

Cited by 41 publications

(28 citation statements)

References 15 publications

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“…Our data agree with these observations since this lower incidence may partly reflect the absence of the most important known cause of venous thrombophilia (the FVL mutation) in this ethnic group. The possibility that FVL might be a genetic risk factor for arterial thrombotic disease has been investigated in several studies, but with conflicting results (Prohaska et al, 1995;Kontula et al, 1995;van der Bom et al, 1996;Foley et al, 1997). However, a recent study demonstrated a clear relationship between the presence of FVL and increased predisposition for myocardial infarction in young women (Rosendaal et al, 1997).…”

Section: Resultsmentioning

confidence: 99%

Heterogeneous ethnic distribution of the factor v leiden mutation

Franco

Élion²,

Santos

et al. 1999

Genet. Mol. Biol.

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Inherited resistance to activated protein C caused by the factor V Leiden (FVL) mutation is the most common genetic cause of venous thrombosis yet described, being found in 20-60% of patients with venous thrombophilia. A relationship between the FVL mutation and an increased predisposition to arterial thrombosis in young women was recently reported. We assessed the prevalence of the FVL mutation in 440 individuals (880 chromosomes) belonging to four different ethnic groups: Caucasians, African Blacks, Asians and Amerindians. PCR amplification followed by MnlI digestion was employed to define the genotype. The FVL mutation was found in a heterozygous state in four out of 152 Whites (2.6%), one out of 151 Amerindians (0.6%), and was absent among 97 African Blacks and 40 Asians. Our results confirm that FVL has a heterogeneous distribution in different human populations, a fact that may contribute to geographic and ethnic differences in the prevalence of thrombotic diseases. In addition, these data may be helpful in decisions regarding the usefulness of screening for the FVL mutation in subjects at risk for thrombosis.
Resistência à proteína C ativada associada à mutação do fator V Leiden (FVL) é a mais prevalente causa genética de trombose venosa conhecida, sendo encontrada em 20 a 60% dos pacientes com trombofilia. Adicionalmente, uma associação entre a mutação do FVL e predisposição aumentada para doença cardiovascular prematura em mulheres foi recentemente descrita. No presente estudo nós determinamos a prevalência da mutação do FVL em 440 indivíduos (880 cromossomos) de 4 grupos étnicos diferentes: caucasóides, negros africanos, asiáticos e ameríndios. Amplificação por PCR seguida de digestão com a enzima de restrição MnlI foi utilizada para definição do genótipo. A mutação do FVL foi encontrada em heterozigose em 4 de 152 caucasóides (2,6%), 1 de 151 ameríndios (0,6%) e esteve ausente em 97 negros africanos e 40 asiáticos. Nossos resultados confirmam que o FVL apresenta distribuição heterogênea em diferentes populações humanas, fato que pode contribuir para diferenças étnicas e geográficas na prevalência de doenças trombóticas. Adicionalmente, estes dados podem ser úteis para a definição de estratégias de rastreamento desta mutação em indivíduos sob risco para desenvolvimento de trombose, na população brasileira

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Section: Resultsmentioning

confidence: 99%

Heterogeneous ethnic distribution of the factor v leiden mutation

Franco

Élion²,

Santos

et al. 1999

Genet. Mol. Biol.

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“…This has been reported to be due to increased coagulability in diabetic individuals in comparison to nondiabetic subjects [20]. There are studies suggesting a role of inherited thrombophilia, mainly FVL mutation in arterial disease [21][22][23]. Venous and arterial thrombotic disorders have long been viewed as separate pathophysiological entities.…”

Section: Discussionmentioning

confidence: 99%

Factor V Leiden mutation and type 1 diabetes mellitus

Nar

Alikaşifoğlu

Tunçbılek

et al. 2008

Blood Coagulation &Amp; Fibrinolysis

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Diabetes mellitus is considered to cause a tendency for arterial thrombosis. Recent studies addressed the association between venous and arterial disease. Resistance to activated protein C is one of the most common causes of venous thrombosis and linked to a single point mutation in the factor V gene, designated as factor V Leiden mutation. There is little information regarding the status of factor V Leiden mutation in type 1 diabetes. The aim of this study is to evaluate association among activated protein C sensitivity ratio, factor V Leiden mutation, and type 1 diabetes taking into account metabolic control, lipids and diabetic complications. The study population consisted of 47 healthy subjects (27.9 +/- 1.2 years) and 48 type 1 diabetic patients (27.9 +/- 1.1 years). Activated protein C sensitivity ratio was measured by activated partial thromboplastin time based assay. The presence of factor V Leiden mutation was determined by amplifying the fragments encompassing gene mutation by PCR. Mean normalized activated protein C sensitivity ratio values and prevalence of heterozygous factor V Leiden mutation were not significantly different between groups (1.08 +/- 0.03 and 6.3% in healthy subjects; 1.01 +/- 0.03 and 6.4% in type 1 diabetic patients, respectively). The activated protein C sensitivity ratio and factor V Leiden mutation were not found to be linked with metabolic control parameters, lipids and diabetic complications in type 1 diabetic patients. There was no association among factor V Leiden mutation, activated protein C sensitivity ratio and type 1 diabetes, metabolic control parameters as well as complications of diabetes. Although the propensity to thrombosis is increased in individuals with type 1 diabetes, activated protein C sensitivity ratio and factor V Leiden mutation do not appear to be significant determinants.

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“…1,2,13-16 Finally, two recent studies have shown that, surprisingly enough, the use of statins discussion 42 Hyperhomocysteinemia, factor V Leiden, and lupus anticoagulant are potential risk factors for both atherosclerosis and venous thrombosis. [43][44][45][46] In our study, a systematic search for these abnormalities was performed in about half the patients. These factors did not explain the observed association between spontaneous thrombosis and atherosclerotic lesions.…”

Section: Additional Observationsmentioning

confidence: 99%